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Rare Diseases

Chair: Dr Tony Lockett

Approximately 7,000 distinct rare diseases affect 350 million people worldwide, but only 5 to 10 percent of rare diseases have an FDA-approved treatment. There is thus an imperative for continued advancements in Rare Disease drug development, including gene replacement and genome editing approaches. The recent increase in regulatory approval of Gene Therapies offers tangible hope for sustained disease-modifying approaches, with approximately 80 percent of rare diseases having a known monogenic cause.

These remain challenging; however, listening to patients’ experiences, perspectives and challenges and exchanging insights can help shape the future of rare disease management to address the patient’s unmet needs better. Only through open and transparent dialogue between industry, researchers, academics, regulators and patients can we ensure that the patient perspective becomes an integral part of how medicines are developed and delivered to patients.

The FPM Rare Diseases Expert Group aims to provide a platform to help foster open dialogue, education and collaboration with all relevant stakeholders in the rare diseases community. This group seeks to support drug discovery across rare diseases, including orphan drugs, advanced therapies and gene therapies. The group also hopes to engage with and educate clinical healthcare professionals and patients to increase understanding of rare conditions and encourage participation in research.

Meet some of our members

Prof Alan Boyd

Dr Arseniy Lavrov

Dr Zoya Panahloo

Dr Suyash Prasad

Dr Ged Short

Dr Tony Lockett

Some of the group's outputs

NICE Consultation on the Transition from children’s to adult services.

FPM’s Rare Disease expert group led a response to a consultation on an update to NICE’s Transition from children’s to adults’ services. FPM provided recommendations for updates to the Guideline in an online consultation document, offering the perspective of FPM and the expertise of our members.

Online Event: Advancing the Frontiers of Gene Therapy and Rare Diseases

Date: May 2022

Rare Disease and Gene Therapy events

FPM’s Rare Diseases expert group hosted two half-day educational webinars about gene therapy and rare diseases in May 2022 (10 & 12 May 2022) which featured panel discussions and practical educational sessions. They were aimed at professionals working across the science and practice in rare diseases and gene therapies. They took a year to plan and deliver.

Day 1 ‘Lessons learnt in Gene Therapy & Rare Disease Development’ was a practical and educational session which delivered an introduction and overview on the use of evolving gene therapies in the rare disease space and the challenges faced in clinical development, including a discussion on use of biomarkers, novel complex endpoints and innovative trial designs. Insights were provided into ‘lessons learnt’ from the perspectives of four highly experienced members from the expert group including Prof Alan Boyd, Dr Anthony Hall, Dr Arseniy Lavrov and Dr Suyash Prasad.

Day 2 ‘Lessons Learnt in Gene Therapy & Rare Disease Patient Engagement and Access’ featured a panel discussion that provided insights on the specific challenges with patient engagement in gene therapy and rare diseases. The panel of expert speakers included leading patient advocates, leaders in rare disease gene therapy and drug development, and experts in market access for patients with rare diseases. These included Fleur Chandler and expert group member Dr Tony Lockett.

How to get involved

If you have any suggestions or would like to get involved with an FPM expert group, please let us know

Email fpm@fpm.org.uk