Genetic Alliance UK in Scotland:
- Natalie Frankish joined Genetic Alliance UK in September as the new Development Officer for Scotland. To find out more about Natalie's work click here or get in touch
- On May 10th 2012, Rare Disease UK will be holding a colsultation event in Edinburgh at the Edinburgh Capital Hotel between 10am and 4pm. The event will aim to gather your input to inform our response to the 'Consultation on a UK Plan for Rare Disease' and to help you formulate your own. For further information on the Edinburgh event and to register, please email .
- On April 3rd 2012, as a member of the Gengage Health Policy Sub-group and FANs Network Patient Forum, Natalie attened 'Affairs of the Heart: Preventing Sudden Cardiac Death Among the Young' at the Edinburgh Science Festival. This was a deliberative event with a number of excellent speakers outlined the issues relating to sudden cardiac death from a genetic, legal, screening and pathological perspective. To find out more about the event, click here.
- On March 27th 2012, PE1398, the petition launched by Rare Disease UK calling for equitable access to treatment for rare disease patients was heard before the Scottish Parliament's Health and Sport Committee. View the evidence session here.
- Rare Disease Day, February 29th 2012, saw the release of the Department of Health 'Consultation on a UK plan for rare diseases' The consultation has been drawn up collaboratively by each of the UK’s four health departments and can be downloaded from the Department of Health website here. Please note that the consultation deadline is Friday 25th May. To ensure that the views of all stakeholders are taken into account, and that and effective UK plan for rare diseases is produced by the UK’s health departments, we need anyone with an interest in rare diseases to respond to the public consultation; individual patients, patient organisations, clinicians, healthcare professionals or those in industry.
- Genetic Alliance UK in Scotland is pleased to announce that the Supporting Patient Groups in Scotland has been involved with the Scottish Managed Clinical Network for Paediatric and Adult Haemoglobinopathies in producing a patient experience questionnaire to canvass support for a patient support group in Scotland. We are also pleased to announce that the project has recieved further funding until 2013 and will continue its work supporting patients with Pompe Disease and Familial Hypercholesterolemia.
- Genetic Alliance UK in Scotland is pleased to announce that PNH Scotland, the first group of patients to benefit from the Supporting Patient Groups in Scotland Project has launched as an official charity registered in Scotland (November 2011). Congratulations to Lesley Loeliger and all those supporting PNH in Scotland!
- On 2nd September 2011, Rare Disease UK launched PE1398 (alongside PE1399 from AGSD UK and PE1401 from PNH Scotland). The petition Petition calls on the Scottish Parliament to urge the Scottish Government to review the mechanism and methodology used by the Scottish Medicines Consortium to appraise the value of medicines for orphan diseases and to instruct the Chief Medical Officer to revise the criteria for accessing Individual Patient Treatment Requests by removing the term ‘exceptional’ from all health boards IPTR requests in relation to orphan diseases. To read more about the petititon and it's progress in front of the Public Petitions Committee of the Scottish Parliament, click here.
- Genetic Alliance UK in Scotland launched the 'Supporting Patient Groups in Scotland' Project in April 2011. This project will help patients with rare diseases in Scotland set up a patient support group for their condition. We are pleased to announce that patients with Paroxysmal Nocturnal Hemoglobinuria(PNH) have been chosen to pilot this project. Natalie will be working closely with Lesley Loeliger to establish a Scottish support group for PNH patients. For more on the Supporting Patient Groups Project click here and if you are interested in taking part in this project please contact
- In April 2011, as a member of the Gengage Health Policy Sub-group, Natalie attended 'From Healthy Embryos to Designer Babies: How Far is Too Far?' a three hour deliberative event on issues relating to Pre-implantation Genetic Diagnosis (PGD). A series of presentations, given by experts in the field, were followed by facilitated round-table discussions. For more information on this event, click here.
- On February 22nd 2011, the thrid annual Rare Disease UK parliamentary reception to mark Rare Disease Day was held at the Scottish Parliament. Over 120 delegates attended the reception, hosted by Labour MSP, Jackie Baillie. Wonderful speeches were given by Ms Karen Ferguson (CEO, Confer Scotland), Dr Lindsay Mitchell (Consultant Haematologist, Monklands Hospital), Mr Will Scott (Head of the Long Term Conditions Unit in the Scottish Government) and Genetic Alliance UK Director, Alastair Kent OBE. Read more about the event here.
- On 2nd March 2010, to mark Rare Disease Day in Scotland, the second meeting of the Rare Disease UK campaign took place at the Scottish Parliament. The event was very well attended with over 120 delegates from various backgrounds, including several MSPs. To find out more about this event and the Rare Disease UK campaign click here.
- A member of our virtual panel, Sophie Dow, has written an article about her journey towards getting a diagnosis for her daughter Annie. Annie has an incredibly rare chromosomal disorder called DAMP and her story illustrates how important it is for families affected by rare conditions and researchers to work together. Professor Gillberg, one of the articles authors commented: "We believe that collaboration such as this between family and researchers working together in the presentation of new results to readers of a scientific journal, is a novel and helpful way of presenting a case. We hope that it will be only the first in a new category of reports, authored not by ourselves, but by other families and other research groups." To view the full article click here.
- The Scottish Clinical Genetic Forum is a network that aims to help Scotland's four NHS Clinical Genetic Services offer services that meet patient needs. It aims to help services develop innovative, seamless services and to integrate patient and public views into service planning and care guidelines. The Forum regularly includes representation from the four Clinical Genetic Services, the Genetic Alliance UK and Gengage, National Services Division and the Scottish Government Health Department, and other representatives from overlapping healthcare specialities or patient support organisations participate as appropriate. The Forum publishes guidelines and documents here.
- On 3rd March 2009 the inaugural meeting of the Rare Disease UK campaign took place at the Scottish Parliament. This event was entirely organised by Genetic Alliance UK in Scotland. It was a very positive meeting and very well attended. You can find out more about the day here.
- Genetic Alliance UK in Scotland have produced a new patient leaflet encouraging patients living in Scotland to get involve with the work that Genetic Alliance UK is doing. Download a copy now: Your Genes, Your Experiences.
- Genetic Alliance UK in Scotland held an extremely successful patient engagement event in December to feed into the Scottish Government's "Patients' Rights: A Public Consultation on a Patients' Rights Bill" for users of the NHS in Scotland. Read more about this event.
- In 2009, the Scottish Government announced updates to the management of women with a family history of breast and/or ovarian cancer in Scotland. These give information on risk assessment, screening and genetic test eligibility.