Organisations, groups and networks
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Academia and research institutions
This category includes universities and other institutions whose primary function is to carry out rare disease research, such as NHS, industry, consultancies and charities.
- Research and development (R&D)
- Research to identify unmet needs and opportunities in the system, understanding issues
- Methodology development, e.g. innovative trial designs suitable for evaluation of rare disease therapies
- Coordinating and delivering clinical trials
- Provide expert opinion to drive strategy of research landscape.
- Policy influencing
- Education, training and mentoring
- PPIE and outreach
- Evidence generation to support regulatory approvals and market access
- Building alliances with other organisational categories
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Charities and networks
This category includes charities, not-for-profit organisations and patient advocacy groups. Our directory will not attempt to list all organisations in this category in the UK.
Instead, we will list umbrella organisations with 100+ member charities, bodies representing this group of organisations and organisations that offer disease agnostic support or funding in the rare disease field.
- Represent and advocate for people living with a rare disease and their unmet needs
- Influence policy at a national level, based on lived experience of people living with a rare disease
- Promoting and enabling patient partnership in research.
- Funding research
- Developing translational programmes and models for investment
- Provide social and care support where needed in their respective community
- Provide financial support to individuals
- Provide platforms for uniting communities
- PPIE and outreach
- Building partnerships across the sector
- Collecting and voicing patient experience data (registries, surveys, natural history studies)
- Building alliances with other organisational categories
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Communications and Campaigning
This category includes organisations that create and disseminate communications around rare disease, for example online or print publications, and those that manage campaigns to raise awareness of and funding to support rare disease research.
- Raising awareness of the impact of rare disease and giving a voice to people living with a rare disease.
- Providing information about rare conditions to people living with a rare disease and the general public
- Providing updates and news on rare disease research and developments in technologies.
- Fundraising to support people living with a rare disease, charities and patient groups
- PPIE and outreach
- Campaigns for policy change and health equality
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Enabling infrastructure
This category includes the organisations, programmes and networks that provide the supporting services or infrastructure that is needed for rare disease research to take place.
- Curate health data to provide researchers with access to large scale data, advancing research in rare disease.
- Provide sustainable disease registry services.
- Collect and maintain resources of biological data and samples, made available to researchers.
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Government bodies
This category includes civil services, regulatory and decision makers, government departments and research councils. Organisations within this category are varied and therefore they will not fulfil all of the responsibilities listed here.
- Support researchers and industry in the rare disease research ecosystem.
- Set guidelines and regulatory frameworks based on policy
- Provide funding for research according to direction set by policy makers and/or to address unmet needs and issues.
- Monitor research outputs.
- Influence policy based on research outcomes.
- Set direction and priorities for whole research eco-system, informed by evidence provided by researchers, people living with a rare disease, industry, etc.
- Incorporate rare diseases into social policy and services.
- Secure sustainable access to diagnosis, treatment and care for people with rare diseases.
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Healthcare institutions
This category includes organisations delivering healthcare, e.g. NHS Trusts.
- Diagnosis of rare conditions
- Delivering treatment and care to people living with a rare disease
- Provide input into or carry out research.
- Provide clinical voice to the rare disease research ecosystem, based on expertise and experience.
- Provide expert opinion to drive strategy of research landscape.
- Influencing policy.
- Delivering research, including coordinating and delivering clinical trials
- Building specialist networks of healthcare professionals with expertise in specific rare conditions
- PPIE and outreach
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Industry and industry bodies
This category includes pharma, biotech, contract research organisations (CROs), medical technology (MedTech) developers, contract development and manufacturing organisations (CDMOs).
- Research and development (R&D)
- Treatments, diagnostics and MedTech development
- Sales and marketing
- Obtaining regulatory approvals
- Understanding the unmet needs within the healthcare system
- Medtech development
- Manufacturing
- Consultancy
- PPIE and outreach
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Research programmes and networks
This category includes programmes or networks from across the UK that carry out rare disease research. They may be primarily funded by government or charitable and not-for-profit organisations and are often delivered in partnership by multiple stakeholders.
- Identifying unmet needs and opportunities in the system, understanding issues
- Influence policy makers based on research outcomes.
- Research and Development (R&D).
- Methodology development, e.g. innovative trial designs suitable for evaluation of rare disease therapies
- Coordinating and delivering clinical trials
- Provide expert opinion to drive strategy of research landscape.
- PPIE and outreach
- Building alliances with other organisational categories
- Building alliances and networks focused on common goals