UK Rare Diseases Framework Board and Forum
Governance arrangements
The UK Rare Diseases Framework was published on 9 January 2021, replacing the previous 2013 UK Strategy for Rare Diseases which expired at the end of 2020. The UK Rare Diseases Framework outlines the future priorities in tackling rare diseases:
- helping patients get a final diagnosis faster
- increasing awareness of rare diseases among healthcare professionals
- better co-ordination of care
- improving access to specialist care, treatment and drugs
The framework will be implemented through nation-specific action plans, which will detail the commitments that each of the 4 UK nations will put in place to meet the shared priorities of the framework.
Governance structures are in place for the delivery of the UK Rare Diseases Framework. These are outlined below.
UK Rare Diseases Framework Board
The UK Rare Diseases Framework Board meets twice a year to provide high level alignment and co-ordination of rare disease policy and action plans across the 4 nations.
This is co-chaired by Deputy Chief Medical Officer (DCMO) for England, Jeanelle de Gruchy, and a rotating official of equivalent seniority from the devolved administrations.
UK Rare Diseases Forum
The UK Rare Diseases Forum provides a mechanism for supporting meaningful engagement and collaboration between members of the rare disease community, the UK Rare Diseases Framework Board and nation specific delivery or implementation boards. The forum consists of 2 parts:
- formal meetings 4 times a year, with a core membership to discuss papers and updates released ahead of the Framework Board meetings. These meetings are chaired by Alastair Kent, OBE – previously co-chair of the UK Rare Disease Policy Board and previously Chief Executive of Genetic Alliance UK
- an online knowledge and collaboration platform for live engagement with a broad range of stakeholders. The platform hosts an active discussion space for wider rare disease community members and a repository for governance structure papers and meeting minutes. It also hosts a community newsletter providing national policy updates, news items and information on upcoming events
Nation-specific delivery or implementation groups
Each UK nation has their own implementation or delivery group in place, bringing together delivery partners to develop and subsequently monitor each nation’s version of an action plan.
England’s Rare Diseases Framework Delivery Group is responsible for producing England’s action plan, and tracking progress and new opportunities in annual updates. This group meets every 6 weeks and is chaired by Maria Nyberg, Deputy Director, NHS Quality, Safety, Investigations directorate in the Department of Health and Social Care (DHSC).
Minutes
The minutes of the UK Rare Diseases Framework Board and the UK Rare Diseases Forum are made available via the UK Rare Diseases Forum online platform. Registration for the platform is available to any interested party by emailing gset@dhsc.gov.uk.
Terms of reference
Governance board membership
UK Rare Diseases Framework Board
- Jeanelle de Gruchy, Co-Chair (England DCMO)
- Chris Jones, Rotating Co-Chair (Wales DCMO)
- Graham Ellis, Rotating Co-Chair (Scotland DCMO)
- Ian Young, Rotating Co-Chair (Northern Ireland Department of Health CSA)
- Alastair Kent, Chair of UK Rare Diseases Forum
- Jonathan Berg, Chair of Scottish Rare Diseases Implementation Board
- Iolo Doull, NHS Representative Wales
- Theresa Magirr, NHS Representative Northern Ireland
- Susan Buchanan, NHS Representative Scotland
- Clive Smith, Patient and Public Voice
- June Okochi, Patient and Public Voice
- Finola McGrady, Northern Ireland Department of Health
- Sarah Ogilvie, Scotland Directorate-General Health and Social Care
- Alan Burns, Scotland Directorate-General Health and Social Care
- Caroline Lewis, Wales Department of Health
- Kath Bainbridge, England Department of Health and Social Care
- Lauren Watson, England Department of Health and Social Care
- Fiona Marley, NHS Representative England
- Maria Nyberg, Chair of England Rare Diseases Framework Delivery Group
- Louise Fish, patient organisation (Genetic Alliance UK)
- Thomas Cranston, Scotland Directorate-General Health and Social Care
- Liza Evans, Wales Department of Health
- Delyth Morgan, Wales Department of Health
- Helena Brown, Northern Ireland Department of Health
- Anthony Houston, Northern Ireland Department of Health
- Scott Morgan, Norther Ireland Department of Health
UK Rare Diseases Forum core representation
- Specialised Healthcare Alliance
- Rare Autoimmune Rheumatic Disease Alliance
- Northern Ireland Rare Disease Partnership
- Genetic Alliance UK (Scotland representative)
- The Association of the British Pharmaceutical Industry
- The Association of British Insurers
- Bioindustry Association
- Association of Medical Research Charities
- Medical Research Council
- NIHR Bioresource
- Genomics England
- PHG Foundation
- Genomics Clinical Reference Group
- Medics 4 Rare Diseases
- British Society for Genetic Medicine
- NHS Digital
- Royal College of Physicians
- Royal College of Paediatrics and Child Health
- Faculty of Pharmaceutical Medicine
- Wales Rare Diseases Implementation Group
- Scotland Department of Health and Social Care
- Wales Department of Health
- Northern Ireland Department of Health
- England Department of Health and Social Care
- Ataxia UK
- UK Thalassaemia Society
- Sanofi
- Healthcare professional representatives
England Rare Diseases Framework Delivery Group members
- Maria Nyberg, DHSC Health Ethics (Chair)
- Kath Bainbridge, DHSC Rare Diseases and Emerging Therapies
- Rosie Fox, DHSC Rare Diseases and Emerging Therapies
- Emily Staricoff, DHSC Rare Diseases and Emerging Therapies
- Emma Lowe, DHSC Research Capacity and Growth
- Jack Price, DHSC Screening
- Emily Hirsz, Office for Life Sciences
- Cathleen Schulte, Office for Life Sciences
- Ana Lisa Taylor Tavares, Genomics England
- Fiona Marley, Highly Specialised Services team, NHS England
- Alison Pope, Workforce, Training and Education Directorate, NHS England
- Kate Tatton-Brown, Workforce, Training and Education Directorate, NHS England
- Mary Bythell, National Disease Registration Service, NHS England
- Peter Lanyon, National Disease Registration Service, NHS England
- Steven Hardy, National Disease Registration Service, NHS England
- Sarah Jevons, Genomics Unit, NHS England
- Rebecca Cosgriff, Transformation directorate, NHS England
- Harriet Teare, Medicines and Healthcare products Regulatory Agency (MHRA)
- Jasdeep Hayre, National Institute for Health and Care Excellence (NICE)
- Helen Knight, National Institute for Health and Care Excellence (NICE)
- Richard Diaz, National Institute for Health and Care Excellence (NICE)
- Patrick Chinnery, Medical Research Council (MRC)
- Rachel Rulton, Medical Schools Council (MSC)
- Martin Tisdall, Federation of Specialist Hospitals
- Shehla Mohammed, Clinical Representative
- Kerry Leeson-Beevers, Patient Representative
- Phillippa Farrant, Patient Representative