Dear HFA colleagues,
Thank you to all HIFA members who have proposed themes for new HIFA Projects in 2025. To date we have two confirmed new Projects and six proposed Projects: see www.hifa.org/projects
One of the six Projects under discussion is Rare diseases. This is an important theme for HIFA as (1) rare diseases are collectively common; and (2) there are particular education, information and communication challenges around people living with rare diseases, caregivers, health professionals, policymakers and society at large.
With this in mind I was very interested to read in today's Lancet about the launch of a new Commission on Rare Diseases. Here are the citation and selected extracts of the announcement:
The RDI–Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people
Boycott, Kym M et al.
The Lancet, 2025 Volume 405, Issue 10479, 605 - 607
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00211-9/fulltext
'Rare diseases are complex and ubiquitous; they represent a global challenge that needs a global response. A rare disease is commonly defined as a medical condition that affects fewer than one in 2000 people. There are thousands of different rare diseases that collectively affect around one in 20 people (400 million individuals worldwide) and include genetic diseases, cancer, infectious diseases, poisoning, immune-related diseases, idiopathic diseases, and undetermined conditions.4 People living with a rare disease (PLWRD) and their families experience common and devastating challenges due to a unifying feature for all rare diseases: their individual low prevalence. The provision of health care is a major challenge, and PLWRD often experience diagnostic delays, misdiagnoses, inadequate care, lack of treatment options, and, for a small subset of patients, very high-cost therapies. The social consequences of living with a rare disease are also devastating and include stigmatisation, difficulties with participation in education or the workforce, financial hardship, and social exclusion. However, approaches to rare diseases are shifting. Decades of work by grass-roots patient organisations and advocates, dedicated medical professionals, and motivated researchers has resulted in an unprecedented number of breakthroughs in rare disease gene discovery, diagnostic technologies, innovative therapies, and treatments. Rare diseases are increasingly seen as a large group of diseases with common challenges for which shared solutions can have global impact...
'The Rare Diseases International (RDI)–Lancet Commission on Rare Diseases is a new initiative dedicated to generating evidence-based and equity-informed recommendations that are implementable and impactful across all countries to improve the lives of PLWRD...'
If there is interest among HIFA members we can perhaps develop a brief proposal for HIFA to host a thematic discussion on EIC issues relating to rare diseases in collaboration with the Commission. We would need to secure £5k to fund such a Project over a year.
If you are interested, please let me know and I'll keep you updated.
Best wishes, Neil
HIFA profile: Neil Pakenham-Walsh is coordinator of HIFA (Healthcare Information For All), a global health community that brings all stakeholders together around the shared goal of universal access to reliable healthcare information. HIFA has 20,000 members in 180 countries, interacting in four languages and representing all parts of the global evidence ecosystem. HIFA is administered by Global Healthcare Information Network, a UK-based nonprofit in official relations with the World Health Organization. Email: neil@hifa.org