2022 Rare Disease Program

As part of PPP’s newly established Disease, Diagnosis and Treatment Commission, this program will examine the patient life cycle through the healthcare system, stemming from symptoms and diagnosis, and culminating with long-term care and condition management, as well as treatment.

Building upon the Rare Disease Framework, and in anticipation of the devolved nations releasing their Rare Disease Implementation Plans, this project will ensure to include the following questions:


  • With the introduction of whole genome sequencing (WGS) into the NHS, how can healthcare professional be trained to best inform and help expecting parents regarding rare diseases?
  • At which points in the patient life cycle do patients, and their families, fall through the system? How can this be addressed appropriately?
  • How can the societal cost (time away from work, travel to appointments, etc.) be more greatly recognised and addressed?


Supported by its Patient and Advocate Group, this project will keep the voice of the patient at the heart of the derived recommendations. Including representation from:

  • Gene People UK
  • UK Thalassaemia Society
  • Cystic Fibrosis Trust
  • Cambridge Rare Disease Network
  • Muscular Dystrophy UK
  • Spinal Muscular Atrophy UK
  • Behçet’s UK
  • GOSH Patient Network

Partnering sponsor, Cognitant, empowers people to take control of their health through deeper understanding of conditions and treatments. Experts in the production of innovative health information and experiences, Cognitant drives changes in patient behaviour and health outcomes. Cognitant is also the power behind Healthinote, the go-to source for trusted health information. Healthinote helps healthcare professional to find trusted health information about any condition, then recommend it to patients as simple health information prescriptions.