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Guest blog: Introducing LPLD Alliance

LPLD Alliance represent patients living with Familial Lipoprotein Lipase Deficiency. In this guest blog, Jill Prawer tells talks about the condition, and what LPLD Alliance is doing for patients.

Imagine what life is like if your primary relationship with food is distrust. That eating the ‘wrong’ thing can leave you in excruciating pain, exhausted, fearful and unable to think clearly. And that it’s often difficult to identify what’s ‘right’ and what’s ‘wrong’.

Imagine living like this in isolation – never meeting anyone experiencing the same thing.

Unfortunately this can be the experience for those with the ultra-rare condition Lipoprotein LipaseDeficiency (Familial Chylomicronemia Syndrome). People with this genetic condition don’t producelipoprotein lipase, the enzyme which breaks down fat. Instead the fat stays in the bloodstreamgiving it a milky-white appearance which is the condition’s main identifying clinical symptom.

Currently there is no effective treatment for LPLD other than limiting how much fat is eaten. People with the condition are advised to eat between 10g and 20g fat daily and to drink no alcohol. If fat is eaten – and this is fat from any source - patients experience symptoms including abdominalpain which can be severe, brain-fog, fatigue (like after eating a large meal, but permanently), jointand back pain, memory problems, yellow spots (xanthoma) and most severe and potentially life-threatening, pancreatitis.

Repeated episodes of pancreatitis make patients more prone to developing diabetes type 2 whichmeans further restrictions to the diet as high blood sugar is turned to fat by the body. For women,pregnancy is risky as fat levels rise automatically increasing the possibility of pancreatitis.

Living successfully with the condition means managing symptoms. It means never feeling confident about the food being eaten unless its ingredients and how it was prepared have been checked beforehand. It means watching others feast while picking over an undressed salad. It means makingphone calls and sending emails in advance to check catering will be suitable every time food is eatenaway from home (or providing your own). It means that travelling abroad is difficult.

LPLD Alliance was set up to support patients with this ultra-rare condition (it occurs in 1 to 2 people per million) and was given its charity number in March of this year. Our aim is to build a supportive community of patients to break this isolation. We aim to raise awareness of the condition and to advocate forexcellence in care and access to new medicines. We want to enable people with the condition to beable to participate more fully in life and reduce their symptoms.

LPLD Alliance was founded by Jill Prawer who was diagnosed with the condition aged two. She instigated the creation of the LPLD community on RareConnect (EURORDIS) in 2012 and became a Fellow of EUPATI (the European Patients Academy on Therapeutic Innovation) having successfully completed the course on medicines development in February 2016. The Board of trustees bring a range of relevant experience to the charity.

LPLD Alliance has represented patients at NICE, has consulted on a quality of life questionnaireaiming to capture the burden of disease, and will be arranging patient meetings in collaboration withhospital consultants.If you have a diagnosis of LPLD, or know someone who does, please get in touch to let us know how we can best offer support. You can find us at or on Facebook at LPLD Alliance.




What is the real cost of your rare disease?

Managing diagnosed and undiagnosed rare conditions can be stressful and costly, for both families and the NHS. Although some rare conditions are managed through coordinated services (e.g. through multidisciplinary clinics or through a care coordinator), most conditions are not managed in this way.

We’re carrying out a small study to look at the value of coordinating health care services for patients with rare and undiagnosed conditions. The study will identify and explore ways to measure different types of costs and benefits – to patients, family members and the NHS.

Currently, we are looking for patients or family members to test a ‘patient diary’ over a short period of time. Participants will be asked to record in the diary the different costs they face such as the time they spend coordinating their care each week, or the money they spend on travelling to medical appointments. We want to get feedback from patients and families to improve the patient diary, so that it can be used in future research projects.

If you would like to take part in this research or would like to ask further questions, please contact: / 0207 704 3141 or Please contact one of the research team if you would like this information in a different format or in the Welsh language.


Exhibit at our conference 

Deadline: Tuesday 7 June 2016

How off your work and share best practice with other members of Genetic Alliance UK at our conference! 

Our annual conference will take place on Tuesday 27 September. This year we are focusing on examples of successful partnerships. We want to feature our members’ best partnership work with clinicians, researchers, patients, the general public, media, and commissioners.

Joshua TuckerJoshua Tucker

We would like to showcase your experience of partnership and highlight the outcomes and learning points.

We will shortlist abstracts based on how valuable the case study and learning points might be to other members attending the conference. Shortlisted members will be invited to give a short presentation and will have their abstract printed on the conference literature. If you have any questions or to send a 400 word abstract, please contact .


Tell us what you think about the use and regulation of genomics data

As genome sequencing becomes a more common technique within the NHS, questions about the best way to regulate access to genomic data and how it is used, and how these processes are best communicated to patients and study participants become ever more important. The answers to these questions will help inform the way the health service should handle genomic information about its patients.

If you are over 18, and are a patient, or a relative or carer of a patient, with a diagnosed or suspected rare genetic condition or cancer, we want to hear from you. We are looking to learn from patients how they feel about the use and regulation of genomic data. You can complete our survey.

The 100,000 Genomes Project is sequencing 100,000 human genomes, including the genomes of certain cancers, with the aim of helping the NHS become one of the first health systems in the world to use whole genome information in mainstream clinical practice. It also allows approved researchers worldwide to access the information from the sequenced genomes to generate more knowledge to help patients, but the project raises some difficult questions:

- What personal and genomic information should be made available to medical researchers?

- What should happen when patients withdraw or can’t give their consent to be in the project?

- What consequences should there be for misuse of genomic data gathered during the project?

We have developed two 20 minute surveys, the first of which is now online. The survey results will help inform the way the 100,000 Genomes Project collects and shares the data it generates. More information on how we will use the responses can be seen on the first page of the survey.

If you have any questions before taking part, or during the survey, you can contact our Public Engagement and Project Manager, , or call our office on +44 (0)20 7704 3141.


Backbench MPs call for better support for those diagnosed through innovative genomic research projects

Joshua Tucker

On Wednesday 4 May 2016, the All Party Parliamentary Group on Rare Genetic and Undiagnosed Conditions met to launch their new report ‘Undiagnosed genetic conditions and the impact of genome sequencing’. The report was launched by Ben Howlett MP, Chair of the APPG who said:

“For any parent, finding out their child is unwell is understandably one of the worst things that can happen to them. Words cannot describe how a parent must feel knowing their child has either a genetic or undiagnosed condition and nobody can tell them what is wrong and how to help their child.

Thanks to the genomics revolution, families affected by the undiagnosed conditions are now receiving a diagnosis – something that would have been unthinkable only a few years back. The challenge for the NHS will be to meet the needs of these families.

This report, the first of its kind from the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, includes a variety of recommendations to improve the care and support for families affected by the very rarest genetic conditions. I will work with my colleagues in Parliament to ensure these recommendations are taken on board by the relevant stakeholders.”

Joshua Tucker

The meeting also heard from Sarah Oakes, the parent of a child with an undiagnosed genetic condition, and Peter Marks, Genetic Counsellor.

Sarah Oakes, mum to Joel (6) said:

“Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.”

The APPG aims to increase awareness of rare, genetic and undiagnosed conditions in Parliament and to help ensure that patients and families affected by these conditions have access to appropriate care and support, so this investigation was extremely pertinent to the APPG members. The research, conducted on behalf of the APPG by Rare Disease UK (RDUK), involved interviews with families of children who have been diagnosed through research projects such as Deciphering Developmental Delay, a research project conducting exome sequencing, and the 100,000 Genomes Project, which is aiming to sequence 100,000 human genomes in the UK.

These families told RDUK that whilst receiving a diagnosis was extremely important to them, and there were many benefits including for reproductive choice, that they felt they would have liked a better understanding of the possible implications including rarity, isolation and continuing uncertainty. Many families also highlighted that receiving a diagnosis is a life changing event, but not the end of the story and so they would like more support post-diagnosis as well as throughout the process.

The initial findings of the research were discussed at a workshop of the APPG, where members heard from families and professionals. They had a fruitful discussion of the key issues raised and made suggestions for improvements. The interviews with families and the APPG discussions helped formulate the final report.

Joshua Tucker

The report is titled ‘Undiagnosed genetic conditions and the impact of genome sequencing’ and makes a series of recommendations to the Department of Health, NHS England, Clinical Genetic Services and other related organisations. The group of back bench MPs have called for improvements for families in three areas of care:

  • Managing expectations, results and implications: NHS England and the appropriate medical professionals must consider best practice in the management of expectations when patients receive genome sequencing. Often families do not know what to expect, or what the implications are of receiving a diagnosis from studies such as DDD and 100,000 Genomes or what results will mean – adding further confusion to an already difficult situation.
  • Support for diagnosed: Much more support needs to be provided to families who have been diagnosed through genomic studies. Receiving this kind of diagnosis can be confusing, unsettling and an extremely emotional time for families of children with previously undiagnosed conditions. The Department of Health, and those leading research in this area, should be responsible for providing adequate and appropriate information for families.
  • Post diagnosis care: The APPG has called on NHS England, NICE and Genomics England to develop a pathway (or NICE guidance) for healthcare following diagnosis. It is essential that the Department of Health and Public Health England show leadership in the collecting of rare disease data to begin the process of developing prognoses for future families found to have the same gene mutation.

To read the report in full please click here.


Guest Blog: Joel 

This blog post is a transcription of a speech made by Sarah Oakes at the All Party Parliamentary Group on Rare, Genetic and Undianogsed Conditions meeting in Westminster on Wednesday 4 May 2016. Sarah Oakes is the mother of a child with an undiagnosed genetic condition and a member of SWAN UK (syndromes without a name). We would like to thank Sarah for telling her story at the APPG meeting, and for allowing us to post her speech here as a blog. 

Joshua Tucker

Joel is a funny, loving, happy, cheeky boy, who loves music and singing, and who has a passion for trains and buses. He also has, among other things, global developmental delay, autism, a learning disability, and an underlying genetic condition, which is effectively still undiagnosed.

Joel and his twin brother Toby were born in July 2009. The pregnancy passed fairly uneventfully until 24 weeks, when a routine scan showed that Joel’s growth was very slow, and from then on he was monitored very closely. When he was born, we noticed that he and his brother looked very different. Joel was considerably smaller, had a very weak cry, and was extremely sleepy. He struggled to maintain his blood sugar, and was unable to breast feed. In the following weeks Joel had issues with mucous, struggling to breathe at times, and also had reflux. But as we were busy just getting through each day with twins, as well as two older children, we didn’t dwell too much on Joel’s difficulties.

However I think subconsciously I did realise that there was something different about Joel. In the first few days after he was born, I distinctly recall googling “babies born with no eyelashes” as he didn’t appear to have any. They later appeared but they were hidden for some time due to the unusual shape of his eyes. I think, in the back of my mind, I did wonder if this was an indication that something may be wrong.

When Joel was around 5 months old, we became aware that Joel’s development was falling behind Toby’s. For example, when placed on his tummy, he couldn’t push up and raise his head as Toby now could. I took him to the health visitor, and was told not to compare the two of them, that all babies develop at different rates, that boys can be slower, etc. All things that we would hear many more times in the future. However the health visitor did agree to refer him to physiotherapy, to “reassure us”. Joel was seen by a lovely physio, who then saw him regularly every two weeks, and gave us a programme of exercises to do with him, as it was clear that his physical development was delayed, and he had hypotonia and hypermobility.

By the time that the boys were coming up to their first birthday, the physio had become concerned about other areas of his development. He didn’t like any loud or sudden noises, and hated the sound of people laughing. He was often unsettled and upset, but didn’t like being comforted or any physical affection. He rarely made eye contact, and wasn’t babbling. He had begun to have a range of seizures. She asked if she could refer him to the community paediatrician for an assessment.

At the end of a two and a half hour appointment with the paediatrician, she asked us if we had any idea of what might be going on with Joel. I said that I suspected that he was on the autism spectrum, which had been in the back of my mind for a few weeks. She said she agreed, however she said she felt he also had some sort of genetic syndrome. She pointed out all his “dysmorphic features” which indicated that there was an underlying cause. She highlighted his unusually shaped eyes, which were widely spaced, his head shape, his low set ears, his lips, his hands, his feet – it felt like suddenly there was something wrong with every part of our perfect little boy. She said she wanted to send blood off for genetic testing, and referred us to the regional genetics service.

We came back from that appointment reeling. Several weeks later the results of the genetic testing came back, and we were delighted to see that nothing had been found. The paediatrician must have been wrong! Yes, there was still the likelihood that Joel had autism, but at least there wasn’t anything else going on. A few weeks after that we had the appointment with the geneticist. We assumed this would now just be a formality – the tests had been fine, so surely she would see us briefly and discharge us. However the reality was very different. She explained to us that Joel’s dysmorphic features led her to believe that he definitely had some sort of genetic syndrome, but she had no idea what it was. She said that it was quite common for initial tests to come back normal, and that finding the answer could be like looking for a needle in a haystack. She ordered further, more in depth tests, and said she would see him again in a few months.

All of a sudden, we had entered the world of the unknown. By this time Joel was seeing a whole range of professionals, and attended our local children’s development centre several times a week for a variety of groups and appointments. We asked them all, “will Joel walk”? “Will Joel talk”? “How will he develop”? None of them could answer these questions, because no-one knew what was wrong with him. All they could say was that they were giving him all the input they could in these early years, to maximise the chances of him reaching his potential.

The next round of tests all came back normal, and in amongst all my googling, in 2011 I found SWAN UK – a group specifically for families with children with undiagnosed genetic conditions. I couldn’t believe it - there were others out there in a similar position to us! It felt like such a relief to finally belong somewhere. From getting involved in SWAN UK, I heard about the Deciphering Developmental Delay (DDD) study. To me, this sounded perfect for us, and a way of hopefully getting a diagnosis. We saw the geneticist again, and she had exactly the same thought. We were enrolled on the study and gave our samples there and then. It was simply a case of waiting from then on.

Many people who are not in our situation find the need for a diagnosis difficult to understand. What does it matter? Joel will still be the same boy with or without a diagnosis. For us, a diagnosis has always been important. It is about understanding why Joel has the difficulties he does. What caused them? What went wrong? Is it something that could be passed on to future generations? It would also be helpful to be able to explain to other people why Joel is how he is. So many times we have had people say to us that because the tests have come back fine, that must mean that there is nothing wrong with him. Others say that they think he is fine, that he is just developing at a different rate to Toby and not to compare them, that boys tend to be slower to do everything, and he will “catch up”. It would be good to have some sort of diagnosis to be able to challenge these perceptions.

To me, a diagnosis is a bit like a coat hanger. Over the first year of his life, Joel had a whole range of symptoms, issues, and needs. It would have been nice to have been able to hang these all up together, in a co-ordinated way, to form one “outfit” that would be recognisable, and would neatly explain Joel to the world in general. Instead, it felt like we had all the symptoms, issues and needs in messy piles all over the floor, that we kept tripping over, and that kept getting in the way of our day to day life. There was no way of hanging them up neatly. I spent hours and hours googling, hoping that I could do what the doctors couldn’t, and find a syndrome that Joel fitted into – a coathanger that would allow us to tidy up the mess on the floor into the right outfit for Joel.

In the meantime, Joel made good progress; learned to walk, and started to talk, all at his own pace. We had to make the decision about schools – we had always envisaged both boys going up the road to our local primary school together, but we had to face the fact that mainstream school may not be the best option for Joel. We visited our local special school, and realised that this would be able to meet Joel’s needs, and give him the best opportunities to grow and develop. This made us feel very sad, but we were glad to have access to such a fantastic school.

We continued to wait for the results of the DDD study. Each day, wondering if the post would bring that letter. Like most parents of children with additional needs, we get a great many letters addressed to “the parents of Joel Oakes”, and there were many times my heart skipped a beat, thinking that one of these might be the letter bringing the news we were waiting for.

Then, two and a half years after we gave our samples, That Letter arrived, telling us that the study had found a probable cause for Joel’s difficulties. We had to wait a few, very anxious weeks, for an appointment to see the geneticist. When we saw her, she asked if we had heard of Bardet-Biedl Syndrome. We hadn’t. A mutation had been found on BBS9, one of the genes associated with this syndrome. She said often people had extra fingers or toes, and she actually checked again that he didn’t, and also that there is a tendency towards obesity. She also mentioned that issues with eyesight can develop. She sent us away to read up on it, and said that there was a specialist team at Great Ormond Street for the syndrome, and she would discharge us and refer us to them.

After much googling, we learnt that the majority of people with the syndrome develop a rod cone dystrophy leading to visual impairment, and can have kidney problems, but generally the prognosis was good, and all in all it wasn’t a bad diagnosis to have. It was evident however, that Joel didn’t appear to be typical for the syndrome. Coming back to the coat hanger analogy; we hung all his issues up on the hanger we had been provided with, but somehow it didn’t end up looking like the outfits in the pictures. It all looked a bit mismatched, with bits missing. Was this really the right coat hanger?

We subsequently attended the multidisciplinary clinic at Great Ormond Street, where we saw a wide range of professionals. The geneticists described him as a conundrum, as he clearly wasn’t a typical case. They decided to repeat the genetic testing to confirm the DDD results, and take it from there. They also enrolled us on the 100,000 genome study, to see if there was another cause for his difficulties. Specialist eye tests showed some issues with the rod cells on his retina.

Eventually we were told that the tests confirmed the DDD results, however the mutation is one they have never seen before, so because of his presentation they cannot confirm or deny the diagnosis.They would await the 100,000 genome results and then decide what to do with him. After thinking we had our diagnosis, we were back into the land of the unknown. This felt like a real blow. We had pinned all our hopes on the DDD study, yet here we were back at the beginning again.

Ultimately, a diagnosis will never define Joel, and we now acknowledge that we may never get the answer we want. At present, all his issues, plus the coat hanger we have been given, are sitting in a box in the corner of the room. For my own peace of mind, I have had to tidy it all away as best I can, otherwise the whole process of searching for a diagnosis becomes overwhelming, and detrimental to our lives. Yet still, I look out for a letter in the post every day, and hope to one day get the coat hanger that will allow us to hang everything up neatly and in a way that explains Joel. He continues to baffle doctors, just recently further eye testing revealed results that a very experienced consultant has never seen before and cannot explain. He has regular, sudden episodes of illness that don’t appear to have particular cause and no-one can explain.

I hope all this doesn’t sound too negative. Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.


Tell NHS England how to decide which specialised services to fund

Deadline: Wednesday 11 May 2016

NHS England is currently consulting on a method for their Clinical Priorities Advisory Group (CPAG) to use when making decisions on which services or medicines should be prioritised for funding. This method is to be used for recommendations for the 2016/17 round of new investments in specialised services. How this method works will be of great importance to groups with treatments either currently being assessed or that will be assessed before 2017/18. We will of course be responding to the consultation; however we would also encourage anyone likely to be impacted by the decisions to express their opinion.

Specialised services are those which are required by relatively few individuals, require specialised and relatively rare expertise, and tend to be relatively expensive. NHS England is the only national commissioner of specialised services in England. The majority of patients affected by rare conditions will access the medicines they need via NHS England’s specialised commissioning process. The process for deciding which new medicines or interventions are given funding through the NHS is a lengthy and complex one.

In 2015, NHS England agreed on the principles underpinning the process for prioritising services and interventions for funding, relative to others. They are now looking to develop a method to apply these principles. It is vitally important that the method used by NHS England is transparent, rational and consistent, particularly as there is a backlog of treatment and service proposals to be considered. It is highly unlikely that NHS England will be able to fund all the policies put forward by clinical reference groups within their limited budget.

The proposals describe a process by which CPAG will be asked to categorise each policy proposal as high, medium or low patient benefit, taking into consideration the quality of the evidence available, showing clinical effectiveness. The policy proposals will then be placed on a matrix, with the incremental benefit of the treatment or service on the x axis, and on the y axis the incremental cost, determined by the cost per patient over five years. The proposals will then be batched into five priority levels of relative prioritisation, based on the position of each policy proposal on the matrix. Before making its final recommendations CPAG will also consider whether any adjustments should be made to the baseline recommendation based on NHS England’s broader strategic ambitions such as reducing health inequalities.

Due to the relatively high costs of many treatments for rare conditions, NHS England has acknowledged that many of these would be unlikely to receive a baseline relative prioritisation of above level 3. This is particularly the case as the description of patient benefit will not include any non-clinical factors. Although it is not clear yet which prioritisation bands are likely to be fully or partially funded. In order for the process not to systematically disadvantage rare disease patients, the adjustments applied would need to be substantial. We are also concerned about the possibility that CPAG may make the decision not to fund a treatment which fits within the funding envelope, based on the relative level of benefit, even though all proposals which have been put to CPAG will already have passed through a number of filtering and prioritisation stages.

For more on why we consider this consultation important, see our Director’s recent piece in the Guardian.

If you would like to discuss this work please contact out Policy Officer,


Help us produce the information you need

One of the aims of our team is to improve the lives of those affected by genetic conditions by ensuring that high quality information is available to all who need them. In order to help us meet this objective we produce patient information ourselves. You can find that information on our website. We are reviewing that information and need your help to ensure that the information we produce is of high quality and meets your needs.

Would you be available to review the information on our website?

You can decide how much time you can spare and how often you want to be contacted. You can do it from the comfort of your home. You don’t need any previous experience – we want to know if the information we produce and the language we use is clear. If you want to help us please fill in this short survey.

If you want more information, please contact or call our offices 02077043141


Genome SeqWeek

The second annual Genome SeqWeek took place on the week beginning Monday 7 March 2016. The theme of the week was genome sequencing in cancer, and saw the launch of our new Patient Charter, titled Genome Sequencing: what do cancer patients think?, and also provided an opportunity to meet with a range of groups with an interest in genomics research.

Engaging with patients 

 On Monday 7 March, we travelled to the Sanger Institute, in Hinxton, with eighteen of our participants from the My Cancer, My DNA project, to hear about the work of the Institute’s cancer researchers. We were treated to a talk from Dr Serena Nik-Zainal, whose work focuses on inherited cancers, and a lunch with the rest of Serena’s team. The day ended with a tour of the campus, including the sequencing room where tens of thousands of genomes will be sequenced as part of the 100,000 Genomes Project .

We also found time on Monday to hold a Twitter chat all about cancer genomics and what it means for patients, with clinical geneticist Dr Shane McKee, Bloodwise’s Head of Research, Matt Kaiser, and BRCA Umbrella founder, Caroline Presho. Over an hour, we covered topics including what sequencing involves for the patient, and where current research is looking the most promising for clinical applications.

The Patient Charter

The Charter, which makes 9 recommendations for consideration before genome sequencing becomes widely incorporated into NHS services as part of clinical cancer care, was developed through a series of online activities completed by over eighty people with experience of cancer as a patient, or as a family member of a patient. Through January and February, we asked participants to share their experiences of, and views on, some of the practical, ethical, and societal impacts of genome sequencing. We were helped by our working group of cancer charities: Cancer Research UK, Bloodwise, Cancer52 and Breast Cancer Now. The resulting Charter highlights the common themes drawn from our findings.

We found that 92% of our participants would share their health and genetic data for research, but would require reassurance of reliable data safeguarding and clear outlines of research aims before doing so. We also found that most cancer patients would want to know about additional findings found during genome sequencing as part of cancer care, and we recommend more work be undertaken to establish how best to deliver such findings, and when would be the best time to inform patients of findings that could cause worry and distress to those already undergoing treatment for a life threatening disease. Our Charter also highlights the importance of developing a streamlined pathway for cancer patients who have had other genetic conditions identified, to ensure appropriate care is provided in a timely and priority driven manner, by health professionals who are expert in their field. We launched the Charter on Tuesday 8th March at the Institute of Cancer Research.

George Freeman MP introduced the Charter, before our panel of experts discussed the findings and recommendations. Our panel included:

Prof. Nazneen Rahman, Head of the Division of Genetics and Epidemiology at the ICR and Head of the Cancer Genetics Clinical Unit at The Royal Marsden NHS Foundation Trust

Mil Vukovic Smart, Policy & Public Affairs Manager at Bloodwise

Vivienne Parry OBE, Head of Engagement at Genomics England

John Solly, Cancer52 board member and director of the Myrovilitis Trust

Zoe Molyneux, Senior Policy Adviser at Cancer Research UK

Dr. Lisa Walker, Clinical Genetics Consultant and Cancer Lead at Oxford University Hospital

The launch was well attended, and questions from the floor ensured a lively discussion.

Engaging with the public

Wednesday saw us head to the Wellcome Collection on Euston Road. We collaborated with the Wellcome Collection on their March Packed Lunch. The Packed Lunch events are held at the Collection once a month, and provide the visiting public with the chance to hear, for free, from a local researcher. We were pleased to support Dr Charlotte Pawlyn, an Institute of Cancer Research scientist whose team is looking for mutations in myeloma patients that could be targets for treatments. Charlotte spoke for half an hour about her work, before the audience were invited to ask their own questions. The event was recorded, and will be available as a podcast soon.

To draw the week to a close, we hosted a science café in Shoreditch on Thursday 10 March. With free entry to the general public, this was a chance to raise awareness about cancer genomics research to a wide audience, and to also hear from the public what they think about genome sequencing in cancer.

We invited Dr Katie Snape, lead consultant in cancer genetics at St George’s University Hospital, and Dr Clare Turnbull, cancer program lead on the 100,000 Genomes Project, to speak with our audience. Katie spoke about the changes in DNA that can give rise to different cancers, and how she is using this knowledge in the clinic. Clare took over to talk through some of the research in which she has been involved, and to tell us all about the 100,000 Genomes Project. The interval was a chance for some audience participation.Attendees were invited to take some time to think about some of the questions raised in our Charter, displayed as posters around the venue, and to note down and share their idea on a post-it note stuck to our posters. The audience got stuck in, and shared some interesting and varied views. A vibrant Q & A brought the night, and Genome SeqWk, to a close for 2016.

To see all of our Tweets from our events during Genome SeqWeek, you can search #GenSeqWk on Twitter.

If you would like to find out more about the Charter, or the My Cancer, My DNA project, you can email .

My Cancer, My DNA is funded by the National Institute for Health Research (NIHR) BiomedicalResearch Centre at The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research.

We were pleased to be working with Cancer52, Bloodwise, Breast Cancer Now, and Cancer Research UK on this project.




Guest Blog: What will a National Congenital Anomalies and Rare Disease Registration Service mean for those affected by birth defects? 

To celebrate World Birth Defects Day we asked the team at Public Health England to talk about the benefits that NCARDRS will bring to patients and families who are affected by congenital anomalies. 

The 3rd of March is World Birth Defects Day and many families across the UK will be taking part in events to raise awareness of this important issue. Up to 1 in 20 babies in the UK are born with a birth defect (also known as a congenital anomaly) and congenital anomalies are one of the leading causes of perinatal and infant mortality. Babies that survive and live with these conditions often have long term disabilities and may have a shortened life span. For some congenital anomalies the cause is known, but for most there is no known cause, and it may be that they are caused by a number of factors.

The National Congenital Anomaly and Rare Disease Registration Service, NCARDRS, was launched by Public Health England (PHE) on the 1st of April 2015, and now incorporates the regional congenital anomaly registers and the National Down Syndrome Cytogenetic Register (NDSCR). In those parts of the country where there was no data collection, new regional teams have been established meaning that, for the first time, we have 100% geographical coverage of congenital anomaly surveillance across England.

The national registration of these conditions and the collection of information about them is important for a number of reasons;

Data from the NCARDRS database will be used as a resource by patients, clinicians and researchers to advance our knowledge of congenital anomalies, their causes and methods of prevention. The data collected will be used to facilitate improvements in medical treatments, clinical care, and the development of better care pathways.

PHE can also use the data to carry out surveillance of congenital anomalies to look for trends, for example we can monitor changes in the number of babies born with congenital anomalies, or changes in the areas where they are born. This information can also be used to help NHS commissioners to plan and develop regional and national NHS services.

Collecting information about babies born with congenital anomalies is essential for monitoring the performance of antenatal and newborn screening programmes, ensuring that the most effective testing methods are offered to pregnant women and parents. Increasing our knowledge of congenital anomalies helps clinicians to provide improved counselling for women and their partners when considering screening tests, and enables health professionals to give more accurate advice to families about their chances of having a baby with a congenital anomaly.

In order to pool data across a wider geographical area and to share expertise, NCARDRS shares data on congenital anomalies with EUROCAT (European Surveillance of Congenital Anomalies), a European network of population-based registries for the epidemiologic surveillance of congenital anomalies.

The national registration of congenital anomalies through NCARDRS is made possible by the dedication of the many notifying clinicians in hospitals across the country, and by the families who agree to their, and their child’s data being used in this way. Their contribution will help us to achieve our overarching aim of improving the knowledge, treatment and prevention of congenital anomalies, thereby improving the lives of all those affected by a congenital anomaly. 


Raising awareness of rare disease in Wales

On Tuesday 23 February, the first Rare Disease UK parliamentary reception took place at the Senedd, National Assembly for Wales. The event was sponsored by Shadow Health Minister, Darren Millar AM and attracted stakeholders from across the rare disease community including patients, carers, patient organisation representatives, health professionals, academics and industry.

Rare Disease UK/Michael Hall

Darren Millar AM welcomed delegates to the event and Alastair Kent OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK, informed those in attendance about our new report, 'The Rare Reality'. The event included presentations from speakers including Dr Andrea Edwards, Clinical Director of the All Wales Medical Genetics Service, Tony Esmond, a patient affected by the ultra rare condition Alkaptonuria and Ceri Hughes, mother of Isaac who has the ultra rare condition Moebius Syndrome and has set up the photography project Same but Different to highlight the people behind rare conditions. 

Alongside the photography exhibition, we had an exhibition of the Expressions of Hope art work - this project was an opportunity for those within the community of rare genetic conditions to tell their own unique story through art. Both exhibitions were extremely popular with delegates and will be travelling around Wales and other parts of the UK over the next few weeks so there will be other opportunities to view them if you couldn't attend our first event!

Rare Disease UK /Michael HallRare Disease UK /Michael Hall

Our Development Officer for Wales will be exhibiting some of the photography at a stand at the Concourse in the Heath Hospital, Cardiff on the 2nd, 3rd and 4th of March so please feel free to pop along and have a chat with her there.

At the reception, Alastair also launched our Pledge for Patients campaign for Wales. The campaign involves canvassing support from prospective parliamentarians to ensure that whoever forms the next Government they will be committed to ensuring patients affected by rare, genetic and undiagnosed conditions get access to the right care and treatment. It has already attracted support from a number of Assembly Members who attended our Welsh reception.

Rare Disease UK /Michael HallRare Disease UK /Michael Hall

We would like to extend our thanks to everyone for their support in making our Welsh Rare Disease Day Reception 2016 the best yet!

Photography exhibition raises awareness of rare diseases 


Photographer Ceridwen Hughes set up the organisation Same but Different in order to use the arts to raise awareness of disability and counteract prejudice that exists. Her latest project specifically focuses on those with rare diseases.

Ceridwen’s own son, Isaac, himself has Moebius Syndrome which causes facial paralysis. Isaac was not diagnosed until 8 months and at that time they were simply given the name of his condition and that was all. They were given no information and had no support. Ceridwen explained that she felt it was very isolating.

"People often make judgments based on what they expect him to be able to do and sometimes they do not take the time to get to know the real child," she said. "Isaac is funny, determined, bright and really caring. Those who do not see beyond his condition are poorer for it."

Through the ‘Rare Project’ Ceridwen is taking photographs of people with rare conditions and accompanying it with background information so people can learn not just about the condition but the person behind it too.

During each photo session, Ceridwen works hard to create an enjoyable experience and capture "the real person."

"I want to try to break down some of the barriers that exist for those with disabilities and rare diseases in particular. Often the person taking part in the project has never had a portrait taken before because they may be nervous or have challenging behavior. It does not matter what condition each person has, they are ultimately still people with their own likes and dislikes and they deserve to have a voice."

Ceridwen’s hope is that through the project people take the time to look at the images, read the story and if it just makes people stop and think, then this initiative will have been a real success.

Same but Different have been working with a number of organisations including Genetic Alliance UK and Climb and in the lead up to Rare Disease Day there is the opportunity to see some of the images from the Rare Project across the country, starting at Chester Zoo from the 27th to 4th March. Further details can be found on their website.


EUPATI launch toolbox to help patients get involved in medicines development 

There is a lot of energy and enthusiasm for involving patients in medicines development – but patients need support to get involved. In 2011 we were one of the patient groups that joined a varied mix of organisations across Europe to kick off the EUPATI project. Our partners included academics and pharmaceutical companies, and our aim was to make good quality education and training available for patients who wanted to better understand the development of medicines. Patients (and carers, and people from patient organisations) who wanted to go a step further and get actively involved in medicines development would be offered an intensive training programme.

It was an ambitious programme, but four years and a huge amount of time and energy later, EUPATI is now running its 15-month training programme for the second time, with 60 trainees from across Europe – it includes face-to-face training, and supervised online education. Today (27 January 2016), a new online toolbox of information will be launched. Avoiding technical jargon and available in seven European languages, it covers all stages of medicines development from early laboratory research to clinical trials, from licensing decisions and assessment by national health systems.

National teams have been set up to help patients to engage with and influence medicines development: they are talking with national medicines agencies (the bodies that assess medicines for use in individual countries) to encourage more patient engagement, plus government departments, universities and pharmaceutical companies. They have run many activities such as webinars, information days and social media campaigns. The UK’s national team can be followed on their website and on twitter by following @EUPATI_UK.

The EUPATI partners are also producing an array of materials to further support patients getting involved: three webinars have been run covering patient engagement in clinical research, ethical review and health technology assessment (the recordings are available online); guidelines for patient involvement are being developed; and recently the team has published several academic articles about the views of patients and of pharmaceutical professionals and how they see the future of patient engagement.

The EUPATI project is proving to be hugely positive for patients and is creating a buzz: our focus now is to develop a way to sustain the training and education beyond 2016, so we that can continue to support patients and ensure they have a voice in medicines development.


This article was written by , our Senior Research Manager. 


We‘re helping patients form support networks

When living with a rare condition, it can be very easy to never meet another person with the same condition, and information and support can be scarce and difficult to access. Patient groups can be invaluable in this situation, bringing patients together to share information and advice.

As an alliance of over 180 patient groups, we see daily the positive impact such groups can have on individuals through offering support, and on wider society through campaigns and lobbying. This is why we are supporting patients who have no dedicated organisation to set up their own patient group.

Our project, Helping Patients, has already been running successfully in Scotland and Wales, and we are now launching the project in England to help develop patient groups for conditions where none exist. From finding others to join the new group, to booking a first meeting room, to spreading the word on social media, setting up a patient group from scratch can be a difficult process. We want to help by using our greatest resource – our member groups who have done it all before.

The knowledge and experience gathered from member groups, both large and small, has helped us understand how to establish a group that can make a difference to the lives of those living with a genetic condition, whether that’s by simply creating Facebook group to share information, or running national campaigns to change the way the NHS works for patients.

If you are living with a rare condition with no patient group, or if you are a patient group that represents one or more conditions that you feel could benefit from its own, focused support network, we want to hear from you. To find out more about Helping Patients, and about getting started on running a patient group, email our Public Engagement Officer Angela, at .


Rare Disease UK launch second patient experiences report “The rare reality – an insight into the patient and family experience of rare disease”

Following the publication of the UK Strategy for Rare Diseases in 2013, rare conditions are now higher up the agenda for clinicians, policymakers and the media than they have ever been. Our campaign Rare Disease UK (RDUK) have carried out a survey to get an up to date picture of patient experiences to see if anything has changed since their first report on patient experiences in 2010. The report launched today at the Royal College of Paediatrics and Child Health, surveys 1200 patients, to monitor the early impacts of the strategy, and this heightened awareness of rare disease.

The findings of the report show that very little has changed for rare disease patients in the last 5 years. Patients are still experiencing difficulties in diagnosis, accessing information about their condition, receiving appropriate coordinated care, accessing treatments and finding out about research. The report highlights the reality of rare disease patients, putting an emphasis on their experiences in their everyday lives. The reality is that changes in the lives of patients, as a result of awareness, are not living up to our expectations. This makes the implementation stage of the UK Strategy for Rare Diseases even more important.

Key findings of the report include:

  • Patients and families are given very little information about their condition. 70% of respondents did not feel they were provided with sufficient information following diagnosis.
  • Patients are frequently left to research their condition alone.
  • Patients often become an expert in their own condition and are often left to inform and educate the medical professionals they encounter.
  • Patients face significant delays on their journey to secure a diagnosis. 45% of all respondents waited over a year.
  • The majority of patients (52%) receive at least one incorrect diagnosis/diagnoses, and visit numerous doctors, before they receive a final diagnosis. 37% receive 3 or more incorrect diagnosis.
  • Patients can experience issues in persuading medical professionals to believe their symptoms and describe how their condition is initially written off as ‘psychological’ or, parents are described as ‘neurotic’.

Alastair Kent OBE, Director, Genetic Alliance UK said “Progress is being made in policy – but this needs to be implemented to positively impact patients on the ground. Any positive developments for rare disease patients do not appear to be uniform across the countries and regions, or between different rare conditions. We need to ensure that all patients have fair access to appropriate care and treatment for their rare disease – no one should be left behind because they are ‘rare’.

The challenge now is to maintain progress were it has been made and encourage progress where it has been slower, to ensure the promise of the UK Strategy for Rare Diseases becomes reality in the years ahead (so that, hopefully, in 2020 we can report more positive changes).

Click here to read the report in full.


Sobi Charity Ball

When: 6.30pm-Midnight, Friday 8 April 2016

Where: Homerton College, Cambridge

Registration is now open for the Sobi Charity Ball. Proceeds from the event will be going to Genetic Alliance UK, Cambridge Rare Disease Network and The Haemophilia Society.

Click here for more information. 


Update from the 2nd Annual Patient Day for Inherited Eye Disease

Last Friday, over 80 patients, families, patient organisations and health professionals gathered for the 2nd Annual Patient Day for Inherited Eye Disease in Wales.

The event included presentations from prestigious speakers within the field presenting on topics such as access to genetic counselling services, access to work, the Wales low vision service and research priorities. Alastair Kent, Director of Genetic Alliance UK, provided an update on the progress made so far in implementing the UK Strategy for Rare Diseases.

Genetic Alliance UK has been working with a group of patients in Wales affected by a number of different rare inherited eye diseases to develop a patient support group. A key element of the day was an opportunity for patients to meet with others with the same rare condition. There was also a patient panel and Q&A session with the audience.

If you would like to develop support for your organisation within Wales, please contact our Development Officer, for more information.


Update from the UK National Screening Committee conference: delivering world-class recommendations

On Wednesday 9 December 2015 our Policy Officer, Louise, attended the first ever UK National Screening Committee conference. The UK NSC is the body that makes recommendations to the government on whether a population screening programme should be implemented, based on the scientific rigour, acceptability, feasibility and cost effectiveness. The title of the conference was “Delivering world-class recommendations”, and the event provided an excellent introduction into the UK NSC’s work for all those present. Stakeholders included a wide range of patient groups, some who have been in contact with the UK NSC for many years, and some who have only recently started to work with them on issues around screening.

The morning was devoted to exploring how the UK NSC reaches its decisions on whether or not to recommend a screening programme, and the challenges and complications they face in doing so. This was discussed in the context of three recommendations that have been made in the last year, regarding possible screening programmes for atrial fibrillation and bacterial vaginosis, and the expansion of the newborn bloodspot screening programme.

In the afternoon we heard from two academics who collaborate with the UK NSC, providing research to gather the evidence used by the committee to make their recommendations. I particularly appreciated the acknowledgement of how the UK NSC’s very high evidence threshold does not always work well for rare conditions.

The conference formed part of a welcome movement in the direction of increased transparency by the UK NSC, and it was clear that the committee have taken on board some of the recommendations of last year’s internal and parliamentary review to make their processes more accessible to stakeholders.

One new development which may help achieve greater transparency is the proposed introduction of an annual call for proposals, the first of which is likely to take place in September 2016 (see the guidance here). However, it will be important for the triaging and prioritisation process to be fair and transparent, and for patient groups not to be required to have carried out substantial research for a proposal to be considered.


If you have any questions or comments about this work please contact our Policy Officer,


What is on the Horizon for Orphan and Ultra-Orphan Conditions?

Last week our Development Officer in Wales, Emma, attended an engagement event with the Welsh Health Specialised Services Committee (WHSSC) as part of their horizon scanning for orphan and ultra-orphan medicines.

The first medicine to go through the All Wales Medicines Strategy Group process for appraisal was Kalydeco (Ivacaftor) – a medicine used to treat Cystic Fibrosis for specific gene mutations. In light of the current capacity of the NICE highly specialised technologies (HST) process being around 3 appraisals per year, the importance of timeliness and equity in the consideration of access to treatments in Wales was highlighted throughout the discussions at the meeting.

NHS Wales and the NICE HST programme

In England, decisions from the NICE HST process are mandated, however, in Wales these decisions are not required to be automatically adopted. In recognition of this the Minister for Health and Social Services, Mark Drakeford has requested an inter-agency approach between the commissioner for Specialised Services in Wales and the All Wales Medicines Strategy Group (AWMSG). A procedure will be put in place that requires the production of an inter-agency briefing that will be provided to the Minister, who will then confirm whether the NICE HST decision will be adopted in NHS Wales.

It was highlighted that any information shared by NICE with NHS Wales will have all information on price redacted, whether this was commercial in confidence or not. It is therefore vital that manufacturers be encouraged to have discussions with both NICE and WHSSC in regards to price. They should also be talking to the All Wales Therapeutics and Toxicology Committee (AWTTC) in parallel with discussions at NICE so that when making an application to NICE HST there is no gap in uptake for Welsh patients when a medicine is approved.

Interim Cohort Commissioning – the “One Wales” Process

To combat the ongoing problem of medicines without a commissioning policy going through the Individual Patient Funding Requests (IPFR) route, without any prior engagement with the HTA process, there will be an interim cohort commissioning process. This is not meant to replace the formal HTA process - HTA will remain the gold standard but there will now be measures in place to make sure treatments do not fall through the cracks.

AWTTC envisage that the “One Wales” process will only be used very rarely and there would be an obligation on companies to engage with HTA within a given period.

The “One Wales” proposal was submitted to the Chief Executives of NHS Wales in November, where it was agreed in principle. However, there were two outstanding points, answers to which had to be re-submitted to the group in December.

What’s next?

Following the meeting of Chief Executives in December, if approved the process will be handed over to the AWMSG Steering Committee, which would be discussing it in February 2016.

Engagement and communication with stakeholders about this next interim cohort commissioning process will not take place until the Chief Executives of the Local Health Boards in Wales and the AWMSG Steering Committee have given the green light for its implementation.

One of the key issues arising from this meeting was the need to establish an Orphan and Ultra-Orphan Stakeholder Forum so that this important trilogue between Commissioners, AWTTC/AWMSG and Patient groups can be continued. We look forward to representing the patient perspective as part of these discussions moving forward.


Update: The policy for the One Wales Interim Commissioning Process is now available on the All Wales Therapeutics and Toxicology (AWTTC) website.

If you have any comments or questions about this work, please contact our Development Officer in Wales,

Cancer and genomics - have your say!

Genomics is becoming an increasingly important aspect of cancer prediction, diagnosis, and treatment. So what is genomics, and what can it do to help cancer patients?

Genomics is the study and “mapping” of genomes. Researchers study DNA to find out what each section of the code - each gene - is responsible for, and how all the genes work together . You can use genomics techniques to predict how well a person will respond to a treatment or find one that will work best for them. This is called personalised medicine. You can also use genomics to test how well a cancer might respond to radiotherapy. For some patients, that can mean far fewer radiotherapy sessions.

The potential of genomics is huge, leading to more precise diagnostics for earlier diagnosis, new medical devices, faster clinical trials, new drugs and treatments and potentially, in time, new cures. This is why the Department of Health is starting to draw a map of thousands of genomes from NHS patients in the 100,000 Genome Project. The aim is to create a new genomic medicine service for the NHS, transforming the way people are cared for.

While whole genome sequencing holds great potential, it is not without risk. Whole genome sequencing can reveal mutations that indicate susceptibility to other, unrelated genetic conditions, and lead to difficult decisions about changes to lifestyle, medical treatment, and what to tell family members. We think it is important to explore the societal, ethical and practical implications of cancer genomics, and make sure that the patient voice is heard. This is what we intend to do in our project, My Cancer, My DNA.

During the project, we will be tackling issues such as:

Would you want to know if you had an inherited risk of developing a genetic condition?

Who should tell your family if you have an inherited risk of a cancer that they might also share?

How should your data be used after undergoing genome sequencing?

By taking part in our project, and responding to questions like these, you can help represent cancer patients to those with the power to make changes to how we implement new tools in cancer care.

As a project participant, we’ll ask for around 45 minutes of your time once a week, over six weeks. You’ll be asked to complete a series of online activities, which can be done anywhere and anytime you like, as long as you have access to the internet. The activities are designed to be interesting and engaging, but most importantly, to give you the chance to be heard.

How can I get involved in the My Cancer, My DNA project?

You can read our flyer to find out more about what is involved as a project participant, and register your interest using this form. You can also contact us by phone with any questions, on 02077043141, or email our Public Engagement and Project Officer, .

My Cancer, My DNA is funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research.

We are pleased to be collaborating with Bloodwise, Breast Cancer Now, Cancer 52 and Cancer Research UK on this project.

Organ donation is changing in Wales!

There are currently 6642 people across the UK waiting for an organ transplant – some of them will die waiting for that call.

Many of our member organisations represent patients with conditions that can cause damage to certain organs. This means that many of the patients they support may require an organ transplant at some point in their lives. The number of people waiting for organs considerably outstrips the number of organs that become available for transplant.

In the UK population 70-90% of people report being in favour of organ donation, but in 2012 only 29% of adults were actually on the Organ Donor Register. This means that people who believe in organ donation do not get the chance to donate their organs because they have not made their wishes known, and it is assumed that they are not willing to donate. Currently the UK arrangements mean that if someone passes away without registering a preference, the responsibility to decide whether or not organs should be donated is passed to their close relatives. It can be hard for families to decide whether to donate their loved one’s organs after their death if they had not registered a choice.

From today, Tuesday 1 December 2015, the way you become an organ donor in Wales has changed. The assumption upon death will be that you have deemed consent, unless you have registered a desire not to donate or have made your wishes clear to someone before your death. This is called a ‘soft opt out’ system of consent.

These changes will apply to all adults who are over 18 years of age, have been living in Wales for over a year and are considered to have the mental capacity to consent.

Organs donated in Wales will still go onto the centralised list for the UK – so it is still really important that interested groups and patients continue to push for change in the other three nations of the UK. Scotland and Northern Ireland both have private members bills introducing opt out organ donation currently progressing through their devolved legislative bodies and we’ll be watching closely to see the outcome of these.

Whether you want to be an organ donor or not, and whether you live in Wales or not, it is important that everyone starts talking to their loved ones about organ donation. You can join the donor register here, or register your decision here if you live in Wales.


If you have questions or comments about this work please contact the Genetic Alliance UK team

Drug Repurposing & Rare Diseases

Treatments for rare and genetic conditions are often few and far between, so it is important for us to be examining all the different ways that therapies might become available to our community in the future. To that end, Richard Le has written a blog about repurposing medicines for rare diseases. Richard Le is a Junior Scientist at SOM Biotech, a clinical-stage biopharmaceutical company specialising in the repurposing of drugs for new indications. Richard is part of the R&D unit, responsible for identifying potential therapeutic candidates for specific rare diseases.  

Drug repurposing is the process by which a treatment already used for a certain condition is used to treat other diseases, expanding the range of use of the medicine.

Drug development incurs a high level of risk and is prone to failure, the process normally spans between 12-16 years. Drug repurposing can have many advantages, including bringing this time scale down by roughly 8 years. This is because the repurposing of a previously licensed drug, for a different indication, reduces the time and money spent in research, development (R&D) and clinical trials. Phase I clinical trials can often be bypassed as a result of previously-established drug safety profiles for their original indications. Although still prone to risks, these are significantly lower in comparison to the traditional drug development processes.

Examples of successful repurposing include thalidomide, formerly used for morning sickness, now used to target multiple myelomas (a group of rare cancers). And perhaps one of the most successful examples in medical history: siledenafil (better known as viagra), which was originally destined for angina but is now utilised for erectile dysfunction and pulmonary arterial hypertension (a rare disease). Various groups are exploring drug repositioning opportunities throughout the scientific community, including in the pharmaceutical/biotechnology industry.

Within the last 20 years, R&D investment by the pharmaceutical industry has increased while the number of therapeutics approved has gone down. This is an obvious problem for patient communities with little or no treatments, such as the rare disease community. In order to be more efficient and to maximise investment, big pharma has turned towards repurposing – many companies have now created specialised research units or departments, and numerous large and medium size pharmaceutical and biopharmaceutical companies are using this developmental approach. Small companies specialising in drug repurposing have recently appeared, such as: Biovista, Anaxomics Biotech SL, Horizon Discovery and SOM Biotech – whom I represent.

Recently SOM Biotech successfully completed a Phase IIa clinical study for a repurposed therapeutic product for transthyretin amyloidosis. At SOM Biotech, we are now in the midst of launching a crowdfunding campaign to start new R&D projects in pediatric rare diseases. Numerous pharmaceutical companies, large and small, have invested heavily within the sector.

Despite not being a replacement for traditional therapeutics development, drug repurposing certainly holds promise for the rare disease community.

“What is a Centre of Excellence?”

At Genetic Alliance UK we get asked this question a lot. Many of the patients we work with are not sure what type of service a Centre of Excellence provides and whether the hospital they attend is a Centre of Excellence. This is understandable as there is no official definition for a Centre of Excellence. There are, however, a number of helpful documents we can use to understand what a Centre of Excellence is and what it should provide for patients affected by rare conditions. One of these is the ‘UK Strategy for Rare Diseases’ - published by the UK Government to improve health and social care for the 3.5 million people who will be affected by a rare condition at some point in their lives.

A Centre of Excellence is essentially a specialist clinic where expert health professionals (doctors, physios, speech therapists etc) come together to provide the very best care and treatment for patients affected by conditions that affect a number of organs and tissues (multisystem disorders). There are different centres for different types of conditions.

Centres of Excellence can be virtual networks of expert health professionals (based at a number of connected hospitals) or can be based within one hospital building. They should work with local healthcare services to manage a patient’s condition. The ‘UK Strategy for Rare Diseases’ lists a number of key characteristics that every Centre of Excellence should have. For example, centres should provide coordinated care, make arrangements for children to transition into adult services, and be engaged with people with rare conditions.

Centres of Excellence should also have a sufficient number of patients under their care - they can’t say they are an expert based on one patient!

They also have to be doing research, because research into rare diseases is vital to improve diagnosis, care provision and to enable the development of new treatments. They can do this in a number of ways, such as clinical research within the centre or supporting registries to collect and share information in a safe and secure way to help other researchers better understand conditions. Centres of Excellence are great places to do this because they bring together both patients and clinical expertise under one roof.

Alongside the recommendations identified in the ‘UK Strategy for Rare Diseases’, our study found two additional characteristics that every Centre of Excellence should have. They are that: Centres should provide education and training for healthcare professionals to share expertise; and that they should share knowledge with other Centres of Excellence and specialist clinics to make sure the best rare disease care standards are available to all.

It is important to note that no one is in charge of labelling a Centre of Excellence and it’s up to each individual specialist clinic to decide if they want to call themselves a Centre of Excellence. There are many specialist clinics that offer excellent care, and meet the criteria of a Centre of Excellence, but have decided not to use the term.


This article was written by our Public Affairs Manager, Farhana. Please get in touch withif you have any questions about Centres of Excellence.

The Accelerated Access Review release their interim report

Last week the Accelerated Access Review (AAR) interim report was released. We welcome the review's acknowledgement that patients must be at the heart of any effort to improve access to innovative technologies, which was demonstrated by their decision to make the first proposition of the report "Putting the patient centre stage".

However, this proposition is far less detailed and elaborated than others, particularly propositions four and five. This needs to be more than just lip service, and we will be strongly encouraging the review team to elaborate more clearly how they are proposing to strengthen patient voice at every stage of the innovation pathway.

In our response to the initial phase of engagement we told the AAR team of our support for the application of adaptive licensing pathways and early access schemes, with appropriate safeguards and surveillance, as a means of accelerating access to transformative medicines for patients with rare and genetic conditions. Consequently we are cautiously optimistic about the proposed accelerated pathway contained in proposition two of the interim report. How effective this is at improving access to innovative technologies for patient with genetic, rare and undiagnosed conditions will depend on how the "most promising products" are identified for access to this system and the extent to which it can cope with the evidence gaps that so frequently occur with treatments for small patients groups.

Proposition five is the most fully developed of the interim report, and is described as underpinning the other four propositions. It lays out a proposal for a new system architecture, involving a network of Innovation Exchanges located in Academic Health Science Networks, which link to a national level Innovation Partnership responsible for supporting the introduction of innovative technologies. It is not clear how this would fit within and interact the already overly complex system for commissioning treatments for rare conditions. We look forward to the review team clarifying and expanding on how their proposed Innovation Exchanges and Innovation Partnership system would work in practice.

The interim report is still quite preliminary, and the review has a lot of work to do to flesh out their five propositions into some more concrete proposals, particularly in the earlier stages of the innovation pathway. In particular, there is very little engagement with the appraisal and reimbursement processes which we have raised our concerns with in the form of two Patient Charters (which you can see here and here). However, this does form a large part of the second stage of engagement, though reducing reliance on the Quality Adjusted Life Year (QALY) has been ruled out.

How can we make sure patients really are put centre stage?

We would encourage our members to get involved with the next phase of the review to help shape how these high level propositions will be put into practice.

The Review has reopened the engagement platform for the public, with new questions which you can find here. This will close again in January 2016. National Voices will be holding workshops to engage stakeholders – we’ll keep you updated when details of these emerge.

The Accelerated Access Review team are also asking groups to participate in a survey on the “attractiveness of different pricing and reimbursement schemes for the UK”. This closes on Friday 13 November 2015.


If you have any questions or comments about this work please contact our Policy Officer,

Petitions Committee Launch Event - Update

Last week we attended the launch event for the new House of Commons Petitions Committee. The Speaker, John Bercow MP, and the leader of the House of Commons, Chris Grayling MP, Ben Howlett MP and Paul Scully MP were there to launch the committee.

The Committee aims to engage more people in parliament by raising the issues that matter most to them. Petitions with the most public backing on the government’s petition site will be raised within parliament.

Primarily the purpose of this is to raise the profile of issues that are important, and that the public are concerned about, but that are low on the parliamentary and political agenda.

How could the Committee help you?

Sometimes the issues that gain traction out in the rest of the world do not penetrate the walls of Westminster. This disconnect can mean that no matter how successful your awareness raising campaigns are with the public, the people with the power to change things are unaware of the issue.

This is where the Petitions Committee, and the government’s petition site, could be useful to you as part of your campaigns work. We all know that petitions on non-governmental platforms can be really powerful in raising the profile of an issue with the general public. However, with the parliament & governments petitions site your petition, and campaigns, profile could be raised across the public, parliament and government.

The Petitions Committee will be coordinating what happens to petitions from the government site.

  • If a petition gets 10,000 signatures you will receive a response from the government.
  • If a petition gets 100,000 signatures the Petitions Committee will discuss whether should be debated in the House of Commons or form part of a Select Committee enquiry.
How can you get the Committee involved in your campaign?

Set up a petition on the government site:

The Committee will only look at petitions from their own site. This, in part, is to make sure everyone signing the petition is a British Citizen or resident. It also means that signatures from paper petitions or petitions on other sites will not count towards the total number of signatories. To set up a petition you must have 5 signatories, at this point petitions are moderated. Petitions may be rejected at this stage if it is defamatory, regarding something currently going through the courts, or is a duplicate of something already on the site. Petitions can only stay in the site for up to 6 months.

To ensure your petition makes a big impact, you’ll need to have a really clear outcome that you want to achieve. The chair of the Committee recommended that this action should ideally be the title of your petition – for clarity’s sake if nothing else. You’ll need to keep in mind what can and cannot be achieved – for example, they do not have the power to call for a vote of no confidence in a politician.

If work is already happening in the Commons on your particular issue the Committee may decide not to hold a debate but will instead pass it on to another Committee already dealing with the issue, or take another action such as setting up an inquiry.

The most important thing about the Petitions Committee’s work, for the rare and genetic conditions community seems to be their ability to use their own discretion. During the launch event they used the example of rare conditions to illustrate that where an issue is deemed by the Committee as being ‘important’ but has not managed to attract a large number of signatures for some reason – such as there being only a small population of people affected by a specific rare condition – then the Committee will still consider taking action.

The Committee team are keen to help and give advice to people setting up their petitions and can be contacted by email at

Whilst the government/parliament petition site, and the Petitions Committee, won’t be the perfect mechanism to reach all your campaign goals but if you want something to be looked at and debated in the Commons, this might be a good place to start. Especially since you don’t need extensive connections around Westminster, or even an MP to deliver the petition.

We are hopeful that this new Committee will be a useful tool for patient groups to raise their concerns in Parliament!


If you would like more information, or have questions about this work please contact our Policy and Communications Assistant,  

Specialist Nursing in Scotland - we need your views!

Deadline: Friday 8 January 2016

At the recent Cross Party Group (CPG) on Rare Diseases, it was agreed that specialist nurses are extremely valuable to families affected by rare diseases in Scotland. However, it was noted that a significant variation in the provision of specialist nursing services for rare diseases exists.

The CPG has agreed to produce a report considering the value of specialist nursing and identifying the gaps in service provision across Scotland. To do this, we need your help.

If you are interested in participating in this work by sharing your experience of specialist nursing in Scotland, please email our Development Officer in Scotland,

In particular, we want to hear:

  • How many specialist nurses exist for your condition in Scotland? (we also want to hear from you if the answer to this question is 'none')
  • What value do specialist nurses offer patients?
  • Is there a variation across Scotland in specialist nursing provision for your condition? Is there a variation between Scotland and other parts of the UK?
  • How are specialist nurses for your condition funded?

We are also keen to hear from any organisation that would like to take part as a case study for this report.


This article was written by our Development Officer in Scotland, Natalie. Please contact if you have any comments or questions about this work, with the subject line “CPG Specialist Nursing Report”.

The Rare Disease Implementation Plan for Northern Ireland has been launched

We are delighted to announce that last week Simon Hamilton, the Northern Ireland Executive Health Minister, launched “Providing High Quality Care for people affected by Rare Diseases – The Northern Ireland Implementation Plan for Rare Diseases”. The Plan reaffirms Northern Ireland’s commitment to effectively implement the UK Strategy for Rare Diseases and ensure that people living with a rare disease have access to the best evidence-based care and treatment that health and care services, together with charities, research and industry can provide.

The Plan identifies a range of actions to be taken forward in Northern Ireland during the period 2015-2021 in relation to the 51 Commitments in the UK Strategy for Rare Diseases. Northern Ireland follows Wales and Scotland in detailing how they plan to address these commitments.

The actions committed to by the Department of Health, Social Services and Public Safety in Northern Ireland (DHSSPS) include (but are not limited to):

  • A continued commitment to work with their patient partners, including our partners in Northern Ireland the Northern Ireland Rare Disease Partnership (NIRDP) and other patient groups.
  • An agreement to consider adopting the Generic Rare Disease Annex for all service specifications, currently being developed by NHS England, which will outline requirements and considerations that need to be made for rare disease patients (including in diagnostic pathways and specialist centres).
  • Identifying genetic services as a priority for progress and working to develop a service specification for medical and clinical genetics – which should enable all individuals with genetic conditions to access the tests they need to get a diagnosis.
  • Steps to facilitate the creation of a Northern Ireland register of rare diseases – this could help provide important information about the frequency and nature of rare diseases.
  • The announcement of a £3.3million investment in the establishment of a Genomics Medicine Centre in Northern Ireland, working with Genomics England, and participating in the 100,000 Genomes Project.
  • Work to identify areas which would benefit from cross border collaboration with the Republic of Ireland to maximise patient benefit.

To read all of the actions proposed by the DHSSPS please look at the plan.


This article was written by the team at Rare Disease UK. If you have comments or questions about this work please email these to

Cross Party Group on Rare Diseases

On Tuesday 27 October 2015 the Cross Party Group on Rare Diseases met in the Scottish Parliament. 24 patients and patient group representatives attended the event.

Kathryn Fergusson, Head of Medicines at the Scottish Government provided an update on access to medicines for rare diseases in Scotland. Kathryn shared the draft scope of the Scottish Medicines Consortium Review which is due to be announced imminently. Kathryn also explained that the New Medicines Fund had been increased to £90million for this year and that the transition from the Individual Patient Treatment Request System to the Peer Approved Clinical System is currently being piloted in Greater Glasgow and Clyde.

There was also discussion on the issue of specialist nursing in rare diseases. At a previous meeting it was noted that there was significant variation across Scotland, and across condition areas. It was decided that the CPG on Rare Diseases would produce a report that will identify gaps in provision.

The Scottish Government's Named Person Policy was briefly discussed at the meeting. Whilst most in attendance were largely supportive of this policy, it was agreed that rare disease patient groups would benefit from a better understanding of what the policy means in practice and we hope to invite a representative of the Scottish Government to attend the next meeting to provide further information.

Many thanks to all who attended and participated!

The next meeting is expected to take place in late December/ early January and the date will be announced in due course.


This article was written by our Development Officer in Scotland. Please contact if you have any questions.

Research for health – how is funding changing in the UK?

The amount of money being put into health research, and what is funded, is changing in the UK. According to a recent report by the Medical Research Council (MRC) on behalf of the UK Clinical Research Collaboration the amount of funding going into research into health and disease has decreased over the last ten years. This is largely due to a fall in spending by pharmaceutical companies. On the other hand, the contribution from charities and public money (research councils, health departments) has risen faster than inflation. The numbers are impressive: according to the Association of Medical Research Charities  the MRC invested £845million in research in 2014, and the National Institute for Health Research invested more than a billion - £1,014million.

One of the strengths of research funding in the UK is that the various funding bodies between them ensure that a variety of research is supported. For example, science aimed at a fundamental understanding of disease receives a lot of support from research councils, while health departments support a wide range of approaches – with a focus on management of disease, and research into health services. The causes of disease, prevention and early detection receive particular attention from charities. Each of these steps is essential. Such is the ‘ecosystem’ of health research funding: the different bodies bring different skills and focus, and each contributes to the whole pipeline.

The sobering news is that the increase of funding from charities and public money is slowing down, quickly. The government is preparing to publish its latest spending review (when priorities for spending are made, and areas for cuts are identified). To try and protect health research funding from public money, a large group of charities made the argument to the Treasury that “cuts in one area [e.g. from health departments] can’t be compensated for by other funders”.

Turning back to the report and a more positive message. In order for scientific discoveries to be turned into new treatments or interventions to help patients, ‘translational’ research is needed. This is critical where few treatments are available, such as is the case for most rare diseases. The report shows that this kind of research is receiving more funding now than 10 years ago, and that the increase has outstripped inflation.

Finally, some of the finer detail in the report is worth a read. The authors did not look specifically at genetic or rare diseases, but the report covers some detail at how research funding is split among different disease areas such as cancer, infection and congenital disorders. The authors have attempted to assess whether the different disease areas receive a ‘fair’ amount of funding based on the impact the diseases have on people’s lives. This is a very difficult analysis to do, but their conclusions are interesting. Cancer receives the highest proportion of funding, but it has a similarly high impact on life expectancy and disability. Some areas appear to lose out (bearing in mind that this will always be an imperfect analysis). These include diseases affecting the blood or heart (including stroke); mental health; diseases related to the muscles/skeleton; diseases affecting the lungs/breathing; and diseases of the digestive system.

Whether or not the total ‘pot’ of money going into health research is enough, it remains important that all those providing funds ensure their money goes where it is most needed - into addressing the unmet needs of patients and their families.


This article was written by our Senior Research Manager, Amy Hunter. Please contact if you have any questions or comments about this work. 

Get involved in our survey on the use and regulation of new gene editing technologies

We think that those most affected by new research techniques should have a say in their regulation and use. As part of a European Commission funded project, we are asking our patient members to share their view on new gene editing technologies, via an online survey.

Last month a researcher at the Crick Institute in London submitted an application to the Human Fertilisation and Embryology Authority to carry out research on human embryos using a new gene editing technology called CRISPR. This technology is used to edit the DNA code in a cell using a ‘cut and paste’ technique. Scientists can search for a particular stretch of DNA code in a cell and cut it out, sometimes replacing it with a different piece of code. This means scientists can ‘delete’ a section of DNA that is causing a problem within the cell, or replace a malfunctioning gene with a working version.

If the request by the Crick Institute’s researcher is permitted, the embryos used will never be allowed to develop beyond a few cells or be implanted into a woman’s womb. The application comes a few months after a research team in Guangzhou, southern China, published a paper detailing the successful use of the CRISPR technique to edit a gene related to the condition β-thalassaemia, also in non-viable embryos. As with any new technology, as it develops, it is important to debate its use with experts, political decision makers, and with the general public to work out the best way to proceed, and to ensure research is conducted responsibly.

As scientists begin to undertake more research using gene editing technologies, we think it is important that patients have a say in how to use and regulate research and its applications. We are part of a project called NERRI (Neuro-Enhancement: Responsible Research and Innovation), which is looking at the views of the general public across Europe on the use and regulation of neuroenhancement technologies. These are technologies, from drugs to computing to gene editing, that seek to enhance human cognitive abilities. Our survey focuses on gene editing technologies particularly. As part of our contribution, we have developed a survey to canvass the views of our members on gene editing applications.

There are some challenging ethical questions still to answer about gene editing techniques, especially when applied to human DNA. There is potential for gene editing technologies to be used in the future to enhance certain characteristics in healthy people, as well as those with life limiting or life shortening conditions, which some people feel is unethical. Others, including some scientists, feel we should not begin editing human DNA in embryos, even when restricted to research, without a thorough knowledge of the potential long term effects gene editing at the embryo stage could have if the embryo were allowed to grow. We want to ask patients for their views on these kinds of difficult questions.

We will be presenting the results of our survey at a meeting of NERRI project contributors in November, and the outcomes of the project as a whole will be shared with those making key decisions about neuroenhancement technology regulation across Europe. We’ll also update our website with the survey results.

You can help us represent the patient voice by completing our survey. It should take around 20 minutes, and includes a short video about gene editing and CRISPR. We want to put forward as detailed and accurate a picture of patient views on gene editing as we can, to have a real impact on European wide decision making about responsible research.


This article was written by our Public Engagement and Projects Officer, Angela Wipperman. If you have any questions or comments about this work please contact 

Centre for Scottish Public Policy Dinner – update from Natalie.

On Friday 16th October, our Development Officer in Scotland, Natalie, attended a dinner hosted by the Centre for Scottish Policy Research. The Key Note speech was delivered by Cabinet Secretary for Health and Wellbeing, Shona Robison, and the dinner was attended by a number of SNP MPs and MSPs - including Westminster SNP health spokesperson Phillipa Whiteford, Scottish Public Health Minister Maureen Watt and Chair of the CPG on Rare Diseases, Bob Doris. The meeting was also attended by a large number of representatives or third sector organisations.

An excellent discussion on the challenges facing the NHS in Scotland was had and whilst it was acknowledged that Scotland is, in many aspects, a world leader (for example the Scottish Patient Safety Programme), there is a need to get "back to basics" to improve outcomes for patients. Integrated IT systems that communicate across health boards and between primary and secondary care, Scotland's Managed Clinical Networks, the importance of supporting carers and improved links between health and social care were all considered.

The need to continue to encourage innovation in health and to ensure treatments are available and accessible to patients in Scotland at the right time, were also noted as priorities for the Cabinet Secretary.

Genetic Alliance UK will continue to engage with the Scottish Government and the Cabinet Secretary for Health and Wellbeing to ensure issues important to our members are reflected in the Scottish Government's vision for the NHS in Scotland. We are currently planning a number of 'National Conversation' events for early 2016 and look forward to sharing details of how you can get involved soon. If you have any questions about our work in Scotland, please contact Natalie.

New Data Sharing Regulation

From this month (October 2015) health and adult social care professionals have a legal requirement - under the Health and Social Care (Safety and Quality) Act 2015 - to share information with each other when working together to provide care. This means that a unique NHS Number will be used to share information about individual patients. Health professionals will be required to update a patient’s history so that the next professional who comes into contact with the patient has as much information as possible.

Many of the patient groups that we represent have a long journey to diagnosis, and complex, ongoing needs. If professionals do not have the full information about a patient’s history, at best they may have to get patients to retell their story, duplicating work and wasting precious time, and at worst patient safety may be compromised. The effective sharing of information is invaluable in giving a timely, safe and well joined up service as patients pass between professionals and institutions.

This new regulation enshrines existing good practice in law. While passing on information vital to the care of a patient appears commonsense, formalising this means that health care providers must be committed to information sharing when working with others to provide care.

First meeting of the Welsh Rare Disease Implementation Group

The first meeting of the Welsh Rare Disease Implementation Group was held last week. The group is responsible for oversight of the Welsh Implementation Plan for Rare Diseases

Those in attendance discussed the progress being made, by the responsible stakeholders, towards the commitments in the plan to date. We also discussed the priorities for Local Health Boards to focus on and to input into their Integrated Medium Term Plans for next year.

Local Health Boards will be brought together at a workshop in October to ensure that there is a coordinated approach to priority setting within each of their plans. One recommendation within the plan was to hold an annual event where Local Health Boards would be required to report on progress with implementation.

This event will be held on Rare Disease Day 2016 (Monday 29 February 2016) during the afternoon at the All Nations Centre, Cardiff. The event will be open to the public and we hope that members of Genetic Alliance UK will make their local representatives aware of this meeting as it will be a great opportunity for the patient community to hold Local Health Boards in Wales to account.

For more information about this event, and others in Wales, please contact our Development Officer in Wales,

Tuberous Sclerosis Complex (TSC) Patient Day 2015

In collaboration with the Tuberous Sclerosis Association (TSA), Genetic Alliance UK organised to bring together local families to hear about support, information and research opportunities available to them in Wales.

On Saturday 26 September 2015, patients, carers and families heard from expert clinicians and researchers within the field of tuberous sclerosis at the University Hospital of Wales, Cardiff.

We heard from Jenny Jones, the newly appointed Advisor for the Tuberous Sclerosis Association in Wales. Professor Julian Sampson spoke about the TSC clinic that was launched in May and access to this specialist service for patients and families. Professor Sampson informed families about a drug, everolimus for the treatment of tumours in some patients with Tuberous Sclerosis which is now available to patients in Wales that was not previously approved for use.

Genetic Alliance UK will continue to work closely with the TSA to ensure that the network of families and carers supported by the Helping Patients project* continues to grow. Feedback from the event has been extremely positive. One parent commented: "Thank you to everyone involved in a brilliantly informative day".

If you have questions or comments about Genetic Alliance UK’s work in Wales, please contact our Development Officer for Wales, .

*The Helping Patients Project is run by Genetic Alliance UK in Wales to establish and develop responsive and dynamic, condition-specific, peer support networks or patient groups where none previously existed. 

EUPATI update: UK platform meets with National Liaison Team

The UK Platform for the European Patients‘ Academy on Therapeutic Innovation (EUPATI) met again last month, with trainees from Cohort 1 and 2 of the course in attendance. The meeting provided the opportunity for the trainees to meet the EUPATI UK National Liaison Team for the first time.

The key topics of discussion were people`s experiences of the EUPATI training course to date, including lessons to be learned, ideas about content of the next EUPATI Event in November 2015 and development of the network.

EUPATI is a patient-led project aiming to provide education for patients on the medicines development process. This project aims to help patients be more educated and involved in the research and development process of new medicines by offering reliable, objective, comprehensive patient-friendly information and training on the research and development process of medicines.

EUPATI’s national group meetings aim at encouraging networking among trainees and fostering links between trainees, industry partners and health care decision makers.

You can read more about the outcomes of the meeting here.

To keep up to date with EUPATI join the network , follow the project on Twitter @EUPATI_UK or Facebook or contact Laura McCulloch on 0141 404 0233 or by email

Cross Party Group on Rare Diseases - help us increase our MSP membership

Cross-Party Groups (CPG) in the Scottish Parliament provide an opportunity for Members of all parties, outside organisations and members of the public to meet and discuss a shared interest in a particular cause or subject. Each CPG must have at least 5 MSP members, with at least one MSP member from each of the political parties. The Cross Party Group on Rare Diseases has been in existence since 2013 and, with 6 MSP members, has been compliant with membership rules.

In November, Aileen McLeod MSP was announced as Minister for Environment, Climate Change and Land Reform, and as such could not continue as a member of the group. In May 2016 we will also lose two other MSPs Malcolm Chisholm MSP (Co-convener of the CPG) and Nanette Milne MSP as they plan to step down in May’s Holyrood election.

We are grateful for the support each of our departing MSP members have shown over the last two years.

To ensure that the CPG remains compliant in 2016, and that the group continues to be an effective force in Holyrood, we will be undertaking a number of activities in the coming months to raise awareness of the CPG and to invite new members to join. Activities will include one-to-one meetings with interested MSPs, a letter writing campaign and a 'showcase' CPG meeting open to all MSPs.

We would be grateful for the support of our member organisations to encourage new MSPs to join the CPG. Our Development Officer in Scotland, Natalie, is keen to hear from you if you would like to take part in any of these activities, or if you have good relationships with any Members of the Scottish Parliament that may be interested in joining the CPG.

In addition to increasing MSP membership, we are also keen to grow our patient group membership too! If you are interested in attending future meetings or becoming a CPG member, please contact

NSPKU meeting with NHS England, Wednesday 9 September

In NHS England’s most recent round of investment decisions for specialised services (published Thursday 2 July 2015) our member, the NSPKU, was disappointed to find that the drug sapropterin would not be routinely commissioned in children.

Phenylketonuria (PKU) is an inherited disorder where those affected are unable to metabolise the amino acid phenylalanine, and if untreated causes serious intellectual impairment. The existing treatment is a very restrictive low-protein diet which is challenging to maintain and provides a substantial burden to families. Sapropterin has been shown to lower blood phenylalanine concentrations in some PKU patients, which may lead to an increased tolerance for dietary protein, and has already been approved for funding in pregnant women.

Yesterday our Policy Officer, , attended a meeting, organised by the NSPKU, with NHS England to discuss the decision. The charity and a group of parents of those with PKU were given time to air their concerns about the decision, and ask the Deputy Clinical Director of Specialised Services at NHS England for more information on why they had not recommended that sapropterin be commissioned for this patient group.

The representatives of specialised commissioning at NHS England explained that the decision was entirely based on what the clinical decision making panel had considered to be a lack of long term efficacy data, and that the cost of the medicine had played no role in the decision. Those present were told that in the opinion of the clinical panel the evidence that had been submitted did not sufficiently show improvement in nutritional status or cognitive levels, and that the evidence of improvement in quality of life endpoints was also considered not to have been particularly strong.

For the vast majority of rare conditions, generating clinical evidence of a standard that can support commissioning decisions is challenging. The small number of affected individuals, the often heterogeneous nature of the condition and a lack of interest in clinical research for treatments in unlicensed indications, despite there being a good scientific basis for their efficacy, are often limiting factors for generating data on the clinical (and cost effectiveness) of a treatment for a rare disease.

What will happen now?

Representatives of the NSPKU made reference to a US study which appears not to have formed part of the clinical panel's decision, and the NHS England representatives agreed to look at this to see if it warranted them reopening their decision. They also agreed that when the interim results of the Kognito study are published early next year, this may lead to a re-evaluation. There will also be conversations with the Chair of the metabolic disease Clinical Reference Group (CRG) to see whether sapropterin is suitable to be considered for commissioning through evaluation.

The process for the NSPKU is ongoing, but we hope that by uniting patient groups for rare and genetic conditions, we can help to ensure that NHS England’s specialised services commissioning policy is fair to the particular needs of our community. 

Patients without a diagnosis are often overlooked but we want to give them a voice in parliament

Last weekend, we attended an event run by SWAN UK (an initiative of Genetic Alliance UK) at Thames Valley Adventure Playground (TVAP) for SWAN UK families to get together in an environment suitable to their children’s needs.

Members of SWAN UK are parents of disabled children who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify. SWAN (syndrome without a name) is not a condition, it is not a diagnosis, and it does not refer to one specific syndrome or condition. In fact, the reason that many children remain undiagnosed is because it is highly likely that they have a very rare syndrome or condition.

The work that SWAN UK does, and the support they provide, is really important to families with undiagnosed children. The SWAN UK community has told us that having an undiagnosed child can be extremely isolating. Questions from other parents can feel impossible to answer when you don’t have a diagnosis to give them and planning for the future isn’t easy when you don’t know what your child’s condition will look like in a few years time.

For SWAN UK families, who do not feel like they fit into the same boxes as other families with diagnosed conditions, the SWAN UK Facebook group is a lifeline. Finding other parents in similar situations and sharing experiences can bring immense benefit to families. Events like the one at TVAP are an extension of this.

TVAP is a playground specially designed for children and adults with different types of special needs. The site has indoor and outdoor activities, including a sensory garden, castle, crazy golf, an indoor sensory room, music and soft play areas. On the day SWAN UK also arranged face painting, balloon animal making, and Tomcat Trikes.

We took the opportunity on the day to talk to the families about some of the policy and public affairs work that Genetic Alliance UK and Rare Disease UK are currently doing. It was interesting to talk about the struggles & challenges SWAN UK families face, how they are both similar, and different, to those faced by individuals with a rare and/or genetic condition. In particular, our discussions focused around the All Party Parliamentary Group (APPG) that we are setting up in parliament. Many of the families were keen to work with us on this and wrote letters to their MPs there and then!

An APPG is a group of MPs and Peers from different parties who work together to highlight issues on a topic that the group represents. Some APPGs have been extremely effective in raising the profile of issues and making sure that MPs and peers are well informed about the perspective of affected communities.

The voice of those without a diagnosis is often forgotten and their needs overlooked, a fact that Genetic Alliance UK highlighted recently in a blog for SWAN UK. We hope that this APPG will mean that the voices of SWAN UK families (in addition to those with rare and/or genetic conditions) are heard within Westminster.

Providing a voice for the SWAN UK community in parliament should open doors, enabling us to push for improved diagnosis which in turn will hopefully unlock access to effective medical care and treatment. This should benefit all families and individuals with rare, genetic and undiagnosed conditions.

Helping the government understand what it can do to help improve the lives of families and patients is so important – and it was wonderful to see so many SWAN UK families take the time to ask us questions about the group and to write to their MPs asking them to get involved.

Find out more about the APPG here. 

Genetic Alliance UK celebrate 200 statements of support for conditions being considered for PGD

Preimplantation genetic diagnosis (PGD) is an important tool for families affected by genetic conditions. Genetic Alliance UK is proud of the work that we have done in this area, and our continued contributions to the Human Fertilisation and Embryology Association’s (HFEA) licensing process for the technology. We are excited to announce that we have now reached 200 submissions to the HFEA in support of the licensing of PGD for specific conditions.

What is PGD?

PGD gives couples at risk from serious genetic conditions an alternative option when considering their reproductive choices. Previously, couples who wished to avoid the birth of a child affected by a genetic condition had to choose between abstaining from having children, trusting to chance that their child would be healthy, or antenatal testing and termination when an affected foetus is detected. For many couples these options were unacceptable.

PGD is a technique that enables couples with a particular inherited condition in their family to avoid passing it on to their children. The process involves the use of assisted reproductive technology (ART). Eggs are obtained and fertilised through in vitro fertilisation (IVF). The genetic material (DNA or chromosomes) within one cell of the embryo is tested for the genetic or chromosomal abnormality before being implanted into the woman. If successful, the procedure will result in pregnancy and the child should not be affected by the condition for which it was tested.

How does Genetic Alliance UK help families who want to use PGD?

The HFEA considers individual genetic conditions for PGD licensing on a case by case basis. Since 2009 we have been been submitting supporting statements, at the request of the HFEA, to bring patient voice to the licensing process.

Applications for licensing are generally submitted when a couple are actively seeking to receive PGD to avoid the conception of a child with a genetic condition. Often one partner suffers from the condition themselves, has a parent who has suffered from the condition, or the couple already have a child with the condition.

The HFEA requires that a couple be at risk of having a child with a “serious” medical condition for it to be licensed. The judgement about the seriousness of the condition is usually based on the age of onset, symptoms, treatability, and the quality of life associated with the condition. It is essential to us that the patient’s perspective is considered as part of this judgement - as they are the ones that really understand how seriously the condition has already impacted on their family.

Our submissions sit alongside applications to the HFEA and statements from peer reviewers, to provide some idea of the familial experience that leads a couple to seek PGD.

In our submissions we discuss the implications of inheritance. Dominant conditions can cast a shadow across generations and recessive conditions can come to a family as a devastating shock out of the blue. We highlight the experience of patients with genetic conditions - that many of these conditions do not have any treatment, let alone a cure, and where treatments exist, they are rarely without risk or fully effective. We make clear the impact on a whole family, including siblings, parents and carers, not just on individuals.

At the heart of our work on PGD is the knowledge that a couple’s decision to choose PGD is being made from a place of informed experience. They will have experienced the condition, either by suffering themselves, or watching a loved one battle the illness, and therefore are the best experts on how serious a condition is, and how it affects an individual's life.

Where we have submitted a statement to be considered alongside an application for a single gene disorder, the licensing committee has not yet refused an application. This shows how seriously the committee takes patient voice, and how powerful the impact of its inclusion can be.

Where is technology and policy in the area of assisted reproduction heading?

Currently, we are contributing to the development of the regulation of mitochondrial replacement therapy, and hope that with our input, the regulation process will include as much patient and public involvement as possible.

The legal basis for the decision making criteria for mitochondrial replacement is similar to that of PGD. We believe that the regulation of mitochondrial replacement should be in line with that of PGD. On a practical level this means that where the “seriousness” of a condition has already been tested during the process of regulation for PGD, we hope that it will not have to be re-evaluated for mitochondrial donation. 

All Party Parliamentary Group on rare, genetic and undiagnosed conditions

Genetic Alliance UK, together with our initiatives SWAN UK and Rare Disease UK are planning to set up an APPG for rare, genetic and undiagnosed conditions.

To ensure the group is successful, we need as many MPs and Peer’s to sign up, and be active members, as possible.

We’re asking you and your members to get involved by contacting your respective MPs. As their local constituents, you have the most influence over your respective parliamentarians. The more MPs that are engaged in the work of the group, the more opportunity we have to raise awareness, influence change, and work together to improve the lives of individuals affected by rare, genetic and undiagnosed conditions.

It will only take just a few minutes to adapt the template letter, which you can adapt to reflect your personal experience before sending to your MP. You can find out who your MP is and how to contact them here.

Don’t forget to let us know if your MP gets back to you. To do this you can contact our Public Affairs Assistant, .

What is an APPG?

All Party Parliamentary Groups (APPGs) are informal, cross-party, interest groups of MPs and Peers interested in a particular issue.

APPGs do not have any power to make laws and are not funded by Parliament. There is a great number of APPGs, covering many and diverse fields such as health, education, transport, defence, finance, the media, and sports.

What we hope to gain from having an APPG on rare, genetic and undiagnosed conditions
  • Increase awareness of rare, genetic and undiagnosed conditions in parliament
  • Help to ensure that patients and families affected by these conditions have access to appropriate care and support
  • Host events for Rare Disease Day and launch relevant reports & research
  • Connect MPs (and Lords) with the issues that matter to their constituents

If you have any other questions or comments about this work please contact our Public Affairs Assistant,

Update from Louise on this week’s Scottish Medicines Consortium Committee meeting

I recently joined Genetic Alliance UK as the new Policy Officer. One of the