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

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.

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