I joined Genetic Alliance UK in April 2017. As CEO it’s my role to develop strategy together with trustees and staff and to oversee our business support functions – including finance, fundraising and governance. I also provide oversight of our policy and public affairs work, member and public engagement, support services and research. I have a long-standing interest in genetics, dating back to my university studies and subsequent postdoctoral research. I’ve also worked in genetics policy at the Department of Health and immediately prior to joining Genetic Alliance UK I served for 5 years as CEO of the Tuberous Sclerosis Association – one of our member charities. The work of the Genetic Alliance UK continues to have such an enormously beneficial and sustained impact – supporting, campaigning, uniting. The incredible achievements of our member organisations and the communities they serve are inspirational and I feel that it is a real privilege to be part of the genetics and rare disease community and to be a part of the Genetic Alliance UK team.
I lead our policy work and manage the policy and public affairs team, as we work to improve outcomes for everyone affected by genetic, rare and undiagnosed conditions, through evidence-based influencing and campaigning. We have long-standing focuses on access to therapies for rare conditions, genomic medicine and the continued implementation of the UK Strategy for Rare Diseases. Our approach has always been to work collaboratively and creatively with statutory organisations and policy makers, balancing ambition with pragmatism. It is important to the team that our members have a say in the policy work that we do; we work closely with our communications team to achieve this. We retain our traditional interest in sometimes controversial issues that affect our members, including animal research, research involving human embryos, reproductive choice in the context of rare conditions, preimplantation genetic diagnosis, mitochondrial replacement therapy, and gene and cell therapy.
As Policy Analyst my role is to identify opportunities and risks within current or proposed policy, understand how change is likely to affect patients and carers, and help make sure that the patient perspective is heard. I have an academic background in both the biomedical and political sciences, and am thrilled to be able to draw on both aspects to help me best advocate on behalf of patients with genetic, rare or undiagnosed conditions. I started my professional life in medical research, investigating the genetic basis of cancer and neurodegenerative disorders. More recently I have been working for several years at different disability charities in a variety of roles.
I am currently on secondment from Genomics England where I work as Ethics Manager. At Genetic Alliance UK I will be providing cover for the Policy Analyst and Public Affairs Manager positions. I am keen to take the patient-focused perspective that I have developed at Genomics England into this new role. My academic background includes an undergraduate degree in History and Politics and a Masters degree in Political Sociology. Positions prior to working at Genomics England include working as a research ethics professional in the university sector and in the civil service as a personal advisor.
I joined Genetic Alliance UK after completing a degree in Biological Sciences and an MSc in Global Health and Public Policy. As Policy Officer, my role is to carry out research into access to medicines and engage with stakeholders to help deliver our ‘Resetting the Model’ project. I also support the Policy team with a range of policy issues. I am passionate about addressing health inequalities and empowering those affected by genetic conditions, and I’m very excited to have joined Genetic Alliance UK team.
I am responsible for implementing Rare Disease UK’s (RDUK) plan of activity as well as developing RDUK’s future strategy in collaboration with colleagues and the Management Committee. My work spans public affairs, policy, campaigns and communications. I have previously worked as Policy and Public Affairs Officer for poverty relief charity Elizabeth Finn Care. I also have experience working for Amnesty International and in Parliament. I have a degree in Politics and a Masters in International Relations.
As the Public Affairs Assistant, I support our work with the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions and manage digital communications for the Rare Disease UK campaign, which includes social media and our patient experiences blog. I have a degree in Politics and Sociology and previously completed an internship with the Association of Medical Research Charities in Policy and Public Affairs.
As Policy and Engagement Manager for our work in Wales, my work includes policy, public affairs, communications and events. I work to generate and communicate a patient and family viewpoint on policy and practice relating to the development of genetics in healthcare in Wales. My background is in Law, Marketing and Communications, and I have previously worked in roles consulting with young people on disability rights and supporting projects benefiting the health and social care of children in developing countries. I believe that the patient voice is the single most powerful aspect in the development and implementation of new services, information, and support.
As Policy and Engagement Manager for Scotland, I represent Scottish patients on a number of policy making groups, run our virtual patient panel and support patients wishing to start a support group for their condition through our Helping Patients Project. I studied Law and Politics before working on placement at the Scottish Government, developing adult support and protection legislation. I also worked for several years with families with long term health conditions. I am passionate about finding out what really matters to patients and their families and the best part of my job is seeing what a difference can be made when patients have a say in our their healthcare is delivered.
As the Director of Support my role is to develop, implement and manage projects that work directly with patients and families affected by genetic, rare and undiagnosed conditions. I started working at Genetic Alliance UK in 2011 to establish SWAN UK (syndromes without a name), our support network for families of children and young adults affected by undiagnosed genetic conditions. As an ambassador for SWAN UK, I still coordinate the network’s activities at a national level and with Nick Meade, our Director of Policy, have initiated the SWAN Europe alliance to promote the issues affecting undiagnosed families at a European level. More recently I have been managing our Building Rare Communities project to support the creation of new support groups and develop and strengthen existing small groups, as well as overseeing the pilot of our new Rare Resources. I have a Masters in Anthropology and Development Studies and have previously worked for other disability charities such as Kids and Centre 404. I have a particular interest in developing and providing opportunities for patients, families and parent carers to have an active and informed voice in decisions and processes that affect them.
As Communications and Support Manager for SWAN UK, I work to raise awareness of undiagnosed genetic conditions and the support that SWAN UK offers. I manage the SWAN UK communications channels and work closely with families to share their experiences. I also manage relationships with external stakeholders including media, charitable organisations and healthcare professionals. I am part of the wider Genetic Alliance UK communications team and help make families and professionals aware of opportunities they can get involved in and new developments which affect the undiagnosed community. I am the first point of contact for SWAN UK enquiries and enjoy organising family and information events. I have a background in journalism, marketing and events and am passionate about giving people a platform to tell their stories.
My role is to support the SWAN UK team in all their office-based work and to manage the registration of new members. My background is editorial work in trade publishing but I subsequently became involved in the charity world and worked for a national learning disability charity before I came to Genetic Alliance UK. I am particularly interested in the impact that raising a child with an undiagnosed genetic condition has on the family as a whole, and in finding ways to support parents and siblings in that position.
As Director of Research, my job is to ensure that we are active in research that is relevant to patients and families affected by genetic conditions. I work to ensure that we identify and act on any policy implications that arise from our research work, which is often often carried out in collaboration with university researchers and clinicians. My academic background is in molecular biology and I have had several managerial roles in biomedical and psychosocial research. My personal motivation is to see real evidence-based improvements in the support that patients and their families receive; our work at Genetic Alliance UK in health care research is significant and exciting for this reason.
In my role as Research Associate, I work closely with patients and families to improve our understanding about what it is like to live with a rare and/or genetic condition. My main focus over the next two years will be conducting research with University College London for the NIHR funded CONCORD Study, which aims to improve how care is coordinated for those affected by rare conditions. I am also currently undertaking a PhD, exploring the identities of parents who have a child with an undiagnosed genetic condition. I am passionate about bridging the gap between research, policy and practice in this field – so that the findings from our research studies are relevant and useful to our patient communities.
Since joining Genetic Alliance UK as Research Officer, I have worked on two main research projects: our ‘Children and Young People’s Experiences’ project, and our ‘Rare Diseases and Mental Health’ study. Next, I will be looking into patients’ and carers’ views about Genomic Sequencing and the NHS. One of the best things about working in the research team at Genetic Alliance UK is that we work so closely with both patients and families, and decision-makers in policy and healthcare. This means that the research we do can help bring about real change for those affected by rare and genetic disease. I have a degree in Biological Sciences and a Masters of Research in Psychiatric Genetic Counselling. Alongside working at Genetic Alliance UK I am training to become a Genetic Counsellor. You can read about my journey into Genetic Counselling here.
As Director of Fundraising and Communications it is my responsibility to oversee the strategy and daily output for these areas. This means I am responsible for ensuring that our charity is financially viable, that our donors and partners are well supported and properly thanked, and that our communications reach the largest possible audience using a range of mediums. Having joined Genetic Alliance UK from the Tuberous Sclerosis Association, I come with an understanding of the challenges faced by patients and their families, and a real commitment to trying to improve the lives of patients through supporting the exceptional work of SWAN UK, our Policy and Public Affairs Team and our Research Department.
As Membership and Public Engagement Manager, I ensure that our membership engagement programme remains relevant to the needs of our members and that we empower our community through training and expert support. Within my Public Engagement role, I am responsible for coordinating outreach activities such as those with schools for our national campaigns: Rare Disease Day and Undiagnosed Children’s Day. I am also responsible for coordinating the delivery of project work, such as our Building Rare Communities project, establishing patient groups for rare and genetic conditions and our Talking about Genome Editing project, on communication and understanding of genome editing. I have an academic background in biomedical research, with a focus on genetics and molecular biology.
I started at Genetic Alliance UK in January 2019 as Press and Media Manager. I joined to raise awareness of the charity’s critically important work. I liaise with print and broadcast journalists to ensure that the Rare Disease UK campaign is kept in the front of the public and represented to the political establishment. I previously worked for the BBC as a senior broadcast journalist and latterly as head of press for the charity leaders’ network ACEVO.
As Communications Assistant at Genetic Alliance UK, my role is to make sure all the relevant groups of people receive information about the work we are doing, and the opportunities for them to be involved in it. I put together our members’ updates and monthly newsletters, look after the Genetic Alliance UK social media accounts and produce our video and digital content. My background is in biochemical sciences, and I have a Masters in protein biology, during which I investigated the causes of alpha-1 antitrypsin deficiency – a condition that two of our member organisations support. I am interested in the ways in which society engages with science, and to this end I am currently studying part-time for a Postgraduate Certificate in Practical Science Communication at University of Cambridge.
I joined Genetic Alliance UK in April 2018 as Trust Fundraising Officer, previously I held a similar position at one of our member organisations – the Tuberous Sclerosis Association. As part of the fundraising team my work involves contributing to the continuing success of Genetic Alliance UK by making funding applications to trusts, foundations and other funders such as the Big Lottery Fund. I am the father of a daughter who has a rare disease – Tuberous Sclerosis Complex – this has been my motivation in trying to improve the lives of patients affected by rare and/or genetic conditions. I have a background in fundraising for various disability support organisations both nationally and regionally.
As Fundraising Officer I work closely with Rare Disease UK and SWAN UK to support fundraisers across all areas of our work, to encourage community fundraising and spot fundraising opportunities. I am responsible for all aspects of fundraising administration and provide first point of contact for fundraisers interested in supporting our work, helping them to plan their own events and activities. I also ensure supporters are thanked for their efforts, giving timely recognition of donations.
Rafael is Professor of Advanced Therapy and Director of Planning and Resources at the School of Biological Sciences, Royal Holloway, University of London. He previously held Lecturer appointments with King’s College London and University College London, and received his BSc and PhD in Biochemistry and Molecular Biology from the Autonomous University of Madrid, Spain.
Rafael has a long-standing interest in gene and stem cell therapies, with particular interest in neurodegenerative diseases. He is the Editor-in-Chief of the scientific journal “Gene Therapy”, the Treasurer of the British Society for Gene and Cell Therapy and organises a yearly event on Rare Disease Day.
David Ramsden has been Chief Executive of the Cystic Fibrosis Trust since December 2016.
He has almost 20 years experience of working in the charity sector and is a Fellow of the Institute of Chartered Accountants of England and Wales.
From 2006 to 2016 David led BBC Children in Need as it raised over £400 million and diversified its income base with new programming and commercial partnerships. He reinvigorated the “Pudsey” brand and grew the scale and scope of the Appeal Campaign – including a wide ranging digital presence.
In parallel to this, David ensured that BBC Children in Need focused its grant making efforts – enabling many smaller projects to receive funding and that the money raised by the public was used effectively to change young lives across the UK.
He has also emphasized the Charity’s role as a learning organisation that identifies and promotes best practice in how to make a difference to young lives.
He previously worked for the British Red Cross and Ernst & Young.David was born in Lincolnshire, grew in Nottinghamshire and now lives in London with his wife, and two young children.
Gloria Clark currently works as a Project Manager for the Patients Association, running projects for healthcare organisations directed at involving patients and improving care. She was formerly the elected Lead Governor at her local hospital trust and is a trustee at Headway Somerset, which supports people affected by acquired brain injury. She chairs the boards of three grant-giving charities and has held managerial positions in commercial organisations and the Citizens Advice Bureau. Gloria has a family member with Tuberous Sclerosis Complex and has been a member of the Tuberous Sclerosis Association for 10 years. This experience has given her a strong understanding of the issues affecting those with a rare genetic condition.
Susan has a science background with a degree in Biochemistry and a Ph.D. She joined the charity sector in 2002. She is the Head of Research and Specialist Services at the Chronic Granulomatous Disorder (CGD) Society as well as leading the development ofPrimary Immunodeficiency UK (PID UK) from its inception in 2013, as its director. Susan was a member of the Rare Disease UK (RD UK) Working Group on Coordination of Research in 2010 and is an ex-trustee of the Association of Medical Research Charities and served recently on two NICE committees as a patient advocate. She is a member of the UK Gene Testing Network Clinical and Scientific Advisory Group, the NHS Scotland National Plasma Product Expert Advisory Group, the NHS England Clinical Reference Group on Immunology and Allergy and RD UK’s Patient Empowerment Group focused on pushing forward the UK Strategy for Rare Diseases.
Sara Hunt is the CEO and founder of ALD Life, a charity supporting sufferers of the rare and terminal genetic brain disorder adrenoleukodystrophy (ALD). Both of Sara’s sons were diagnosed with ALD in 2001. After failing to find adequate support, and with the encouragement of other ALD parents, Sara founded ALD Life in 2004. Following the death of Sara’s eldest son in 2012, Sara stepped down as Chair of ALD Life to be employed as its CEO. Since then she has been proactive in gaining management skills, and passed a Level 3 NVQ Certificate in Management in 2014. She also graduated successfully from the EUPATI (European Patients’ Academy) course to educate patient advocates in aspects of drug development and research in 2016. In addition she has developed a profitable business to support ALD Life’s core costs. Currently ALD Life employs a total of 20 staff – three of whom are directly affected by adrenoleukodystrophy. Sara is a member of the NHS Metabolic Clinical Reference Group as a patient voice representative. She also represents ALD Life as a member of Patient Advocates for New Born Screening (PANS), Specialised Healthcare Alliance and EURORDIS.
Sue Millman has spent her career in the voluntary sector. Initially Sue worked with people who were homeless or needing support in their housing situation, including refugees, ex-offenders, Gypsies and travellers, and people with substance misuse problems. She provided and co-ordinated support, and managed their accommodation. Sue became CEO of a youth homeless charity, Capital Housing Project; and then CEO of Alcohol Recovery Project, a housing association also providing day services across London. Her last post in the housing sector was as Director of Support at Advance, a national housing association providing services to people with mental ill-health, and learning disability. In 2007 Sue became CEO of Ataxia UK. The ataxias are degenerative, life-limiting neurological conditions affecting balance and co-ordination for which there are no treatments and cures; there are around 12,000 people with ataxia in the UK. Over the last 10 years Sue has become familiar with the policy issues affecting the rare disease and neurological environment. She is a Trustee of the Neurological Alliance, serving for 5 years as Vice Chair. Sue joined the NHS England Specialised Services Patient and Public Voices Assurance Group in 2012, and has recently joined the NHSE Rare Disease Advisory Group.
Elizabeth (Liz) Porterfield is secondary carer for her son who has Huntington’s Disease. Liz recently retired from her role as Head, Strategic Planning and Clinical Priorities, with the Scottish Government Health & Social Care Directorates. Liz led the development of several clinical strategies including the National Clinical Strategy, the Cancer Strategy and the Scottish Rare Disease Plan, “It’s Not Rare to have a Rare Disease”. She was a member of the implementation group and of the UK Rare Disease Forum. She was the Government sponsor of Scotland’s National Services Division which commissions all national (including across UK) specialist and screening services, such as the Scottish Molecular and Cytogenetics Consortium and the Molecular Pathology Consortium. She was responsible for putting in place the first ever cancer genetics services for breast, colorectal and ovarian cancer. Elizabeth contributed to the establishment of the Innovative Healthcare Delivery Programme (IHDP) based at the Farr Institute in Edinburgh and the Scottish Genomes Partnership.
Robin Nott, Observer, is a retired solicitor and partner in a City of London firm where he practised in the commercial and intellectual property field.
Since retiring he has had a number of non-executive directorships and he is a director of Licensing Executives Society (Britain & Ireland), the U.K. chapter of Licensing Executives Society International, the world’s leading association of technology transfer and licensing. He also continues to sit on the Intellectual Property Advisory Committee of the BioIndustry Association and the Life Sciences Committee of the Chartered Institute of Patent Attorneys.
Sarah Wynn has a PhD in Genetics from Imperial College London and nine years postdoctoral research experience. Sarah’s family are members of Unique. As Information Officer for Unique (2007-2015) Sarah was responsible for Unique’s information guides, and for helping to run and maintain their database and helpline. Sarah has been a member of a number of advisory boards and committees, including the Clinical Reference Group for Medical Genetics and the British Society for Genetic Medicine’s (BSGM) Bioethics and Research Group. In the last three years, while living in Hong Kong, Sarah worked as a Genetics Specialist at Central Health Medical Practice and also at Angsana Molecular and Diagnostics, and volunteered with the Hong Kong Alliance for Rare Diseases and patient organisation The Joshua Hellmann Foundation. Sarah is a member of a number of professional bodies, including the BSGM, the Royal Society of Biology and the Asia Pacific Society of Human Genetics. From 2010 until January 2018 she was a trustee and the treasurer of The Little Ark Pre-school, Islington.
Julie has been a full-time volunteer for almost 20 years and has extensive experience of working with researchers, those delivering services to families and other non-profit organisations. Julie founded Max Appeal in 2001, following the death of her son, for people with 22q11.2 deletion syndrome. She became a trustee of the Children’s Heart Foundation (CHF) in 2003 and is now chair. Julie joined the Cardiovascular Care Partnership (UK), the patient arm of the British Cardiovascular Society, in 2008. Max appeal acts as the secretariat to the All-Party Parliamentary Group for 22q11 Syndrome and the International 22q11.2 Society for professionals, researchers and experts with an interest in 22q11 deletion syndrome. Julie also attends specialist clinics to support families at various hospitals in addition to representing 22q11 deletion syndrome patients on many committees and groups.