Your guide to the rare disease research ecosystem in the UK

Raremap has been created to help you find out more about the organisations in the UK rare disease ecosystem, what they do and how they interact with each other.

Categories of organisations, groups and networks

There are many different groups and organisations all involved in rare disease research in the UK. Each has their own contribution to make and their own interactions with others within the ecosystem. Broadly, organisations will fit into one of these categories. Click on the category to learn more about the role that organisations within the category play in the rare disease ecosystem, and the activities that they typically deliver.

Academia and research institutions

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.

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Charities and not-for-profit

Charities and not-for-profit

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.

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Communications and campaigning

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.

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Enabling infrastructure

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.

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Government bodies

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.

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Healthcare institutions

Healthcare institutions

This category includes organisations delivering healthcare, e.g. NHS Trusts.

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Industry and industry bodies

Industry and industry bodies

This category includes pharma, biotech, contract research organisations (CROs), medical technology (MedTech) developers, contract development and manufacturing organisations (CDMOs).

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Research programmes and networks

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.

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Functions

There are many different professional roles carried out by individuals involved in rare disease research. Click on the tiles below to learn more about them and to see the organisations in which they are found.

Advice or consultancy

Advice or consultancy

Professionals in advice or consultancy roles provide expert guidance to stakeholders across the rare disease ecosystem. Typically based in industry, academia, consultancies, or regulatory agencies, they offer strategic, scientific, operational, or regulatory advice to support research, development, and access. This includes helping researchers navigate complex pathways such as clinical trial design, ethical approvals, and market access by interpreting guidelines and offering tailored support. Regulatory bodies like the Medicines and Healthcare products Regulatory Agency (MHRA), Health Research Authority (HRA), and National Institute for Health and Care Excellence (NICE) also play a role by issuing scientific advice and clarifying requirements to facilitate compliant and efficient research and development.

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Advocacy and policy influencing

Advocacy and policy influencing

Individuals in advocacy and policy influencing roles often work across charities, patient organisations, academia and research networks. Their primary responsibility is to represent the interests of people living with rare diseases (PLWRD) by shaping public discourse and influencing decision-makers. This includes lobbying for changes in healthcare policy, funding priorities, and regulatory frameworks, often grounded in lived experience and research evidence.

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Clinical trial development and participant recruitment

Clinical trial development and participant recruitment

These individuals, often based in NHS Trusts, academic research centres, or contract research organisations (CROs), are responsible for designing clinical trial protocols and managing the recruitment of participants. Their work ensures that trials are scientifically robust, ethically sound, and appropriately staffed with eligible participants. This includes developing innovative trial designs and coordinating trial delivery.

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Communications

Communications

Communications professionals, typically working in charities, media organisations, or campaign groups, are responsible for creating and disseminating information about rare diseases. They raise awareness, share research updates, and engage the public and stakeholders through various media channels. This includes public awareness campaigns, updates for patients and professionals, and fundraising efforts.

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Digital Innovation

Digital Innovation

Individuals in digital innovation roles work in organisations developing or applying digital technologies such as in silico modelling, digital twins, AI, and health data platforms to accelerate diagnosis, treatment development, and care delivery. These professionals contribute to the transformation of rare disease research and healthcare by enabling data integration, personalised medicine, and novel trial designs.

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Education and training

Education and training

Individuals in this role are responsible for designing, delivering, and evaluating learning programs that enhance the skills and knowledge of those working in the rare disease research ecosystem, including researchers, healthcare professionals, charities and advocacy groups and people living with a rare disease. Their work typically includes developing training materials and curricula, facilitating workshops, seminars, and e-learning sessions, supporting career development, assessing training effectiveness and adapting programs based on feedback and evolving research needs. They ensure that individuals, teams and organisations in the research ecosystem have the competencies, knowledge and skills required to carry out their work and achieve their aims.

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Funding

Funding

Professionals in funding roles are responsible for allocating financial resources to support rare disease research, infrastructure, and services. They work in government agencies, charities, philanthropic foundations, and industry. Their work includes setting funding priorities, evaluating grant applications, and enabling translational research and innovation.

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Healthcare delivery

Healthcare delivery

Healthcare delivery professionals, typically based in NHS Trusts and specialist clinics, are responsible for diagnosing, treating, and managing care for people living with rare diseases (PLWRD). Their work focuses on providing timely, accurate diagnoses and delivering high quality, patient centred care. They also contribute clinical expertise to inform service planning and ensure that care pathways are responsive to the complex needs of individuals with rare conditions.

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HTA and access

HTA and access

Professionals in Health Technology Assessment (HTA) and access roles, often working in regulatory bodies, consultancies, or pharmaceutical companies, are responsible for evaluating the clinical and economic value of new treatments. They prepare evidence submissions to HTA agencies and support strategies to secure reimbursement and patient access. Their work ensures equitable access to approved therapies for people living with rare diseases (PLWRD) through the NHS and other systems.

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Logistics

Logistics

Individuals in logistics roles manage the supply chain and distribution of rare disease therapies, diagnostics, and research materials. They ensure the timely and compliant delivery of products and samples, including cold chain management and coordination with healthcare providers and manufacturers. These roles are typically found in pharmaceutical and biotech companies, contract development and manufacturing organisations (CDMOs), clinical research organisations (CROs), specialist logistics providers, and occasionally within NHS Trusts and healthcare institutions where treatment administration logistics are managed.

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Manufacturing

Manufacturing

Manufacturing professionals, often employed by pharmaceutical companies, biotech firms, or contract development and manufacturing organisations (CDMOs), are responsible for producing rare disease therapies, diagnostics, and medical technologies. They ensure that products meet regulatory standards and are manufactured at scale to support research, clinical and commercial needs.

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Patient and Public Involvement and Engagement (PPIE)

Patient and Public Involvement and Engagement (PPIE)

Individuals in PPIE roles work to ensure that people living with rare diseases (PLWRD) and their families are meaningfully involved in shaping research, policy, and service delivery. Typically based in charities, research institutions, and healthcare settings, they facilitate co design of studies, participation in advisory boards, and public engagement activities. Their work ensures that rare disease initiatives are inclusive, relevant, and impactful.

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Policy development

Policy development

Policy development professionals, typically based in government departments, regulatory bodies, or strategic consultancies, are responsible for designing and implementing frameworks that shape the rare disease ecosystem. Their work includes setting national priorities, allocating funding, and defining access pathways, informed by evidence from research, advocacy, and lived experience.

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Public affairs

Public affairs

Individuals in public affairs roles work in organisations such as charities, industry bodies, and advocacy groups. Their primary responsibility is to manage relationships with external stakeholders, particularly policymakers and the public, to influence legislation, funding priorities, and public opinion in support of rare disease research and care. This includes strategic activities aimed at influencing public policy, promoting awareness of unmet needs, and representing the interests of people living with rare diseases (PLWRD).

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Real world data collection

Real world data collection

Professionals in this role, often based in healthcare institutions, research programmes, or data science organisations, are responsible for collecting and curating data from routine clinical practice, patient reported outcomes, and other non trial sources. This data is used to assess treatment effectiveness, inform policy, and support regulatory decisions and health system planning.

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Registry development

Registry development

Individuals in registry production roles, typically employed by public health agencies or research networks, are responsible for designing, implementing, and maintaining disease registries. These registries systematically collect and manage data on individuals with rare diseases to support research, policy development, and service planning by providing insights into prevalence, outcomes, and treatment patterns.

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Regulation and compliance

Regulation and compliance

Regulatory and compliance professionals play a key role in the oversight of clinical research and the introduction of new treatments and may work in government agencies, industry or academia and research institutions. They ensure compliance with legal and ethical standards and develop regulatory frameworks that govern rare disease research and product development. This can include navigating approval processes and supporting the safe introduction of new diagnostics and treatments.

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Research and development

Research and development

R&D professionals, typically found in pharmaceutical companies, biotech firms, and academic institutions, are responsible for conducting scientific investigations to discover, design, and develop new diagnostics, therapies, and technologies for rare diseases. Their work spans from basic research to preclinical and early stage development, addressing unmet needs and generating evidence for access.

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How is the rare disease ecosystem connected?

See how organisations, groups and networks interact with each other

The Renal Ciliopathies National Network (CILIAREN) Node

Hereditary Brain Aneurysm Support (HBA Support)

LifeArc Centre for Rare Respiratory Diseases

The Voltage Gated Calcium Channel Collective (VGCCC)

CPA Research Foundation

Cure EB

Cure DHDDS

LifeArc Centre for Rare Mitochondrial Diseases

trialport

International Niemann-Pick Disease Registry

Categories of organisations, groups and networks

Functions

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