Professional Roles

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 MHRA, HRA, and NICE also play a role by issuing scientific advice and clarifying requirements to facilitate compliant and efficient research and development.

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.

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.

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.

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.

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.

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.

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.

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 PLWRD through the NHS and other systems.

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.

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.

Individuals in PPIE roles work to ensure that 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.

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.

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).

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.

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.

Regulatory professionals, typically employed by agencies such as the MHRA, HRA, or NICE, are responsible for evaluating and approving research protocols, clinical trials, and new treatments. They ensure compliance with legal and ethical standards and develop regulatory frameworks that govern rare disease research and product development. This includes navigating approval processes and supporting the safe introduction of new diagnostics and treatments.

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.