Rare Disease Day 2025: The Power of Genomics

Rare Disease Day

By Claire Whitehill


In my role as UK Regional Ambassador for the CSNK2A1 Foundation, I was excited to be invited to attend the Genetic Alliance parliamentary reception at the Houses of Parliament in London hosted by Peter Dowd MP, Chair of the All Party Parliamentary Group on Genetic, Rare and Undiagnosed Conditions. I was pleased to see a fellow member of the Genomics England Participant Panel at the event, as well as the first Panel Chair Jillian Hastings Ward.


Jillian read her poem and explained the inspiration behind her contribution to ‘More than you can imagine: an anthology of rare experiences’. The anthology is a collection of over 60 creative pieces from the genetic, rare and undiagnosed condition community. It captures a diverse range of experiences through creative works such as poetry, stories, photos and drawings. The creative pieces were inspired by the phrase ‘more than you can imagine’. Each submission showcases the impact rare conditions can have on a person’s sense of self, relationships and wellbeing. The anthology can be found here.


Nick Meade, Interim Chief Executive of Genetic Alliance UK launched the Genetic Alliance UK Rare Disease Day 2025 report, ‘More than you can imagine: opportunities for improving the lives of people with rare conditions.' Genetic Alliance UK’s Rare Disease Day policy report demonstrates the extent of unmet needs that continue to exist in the rare condition community. It makes the case for a new UK-wide government strategy on rare conditions, and identifies opportunities for the Government to support people with rare conditions in the current policy landscape and in the context of the new NHS 10 year plan. The report can be found here.

The keynote speech by Ashley Dalton, Parliamentary Under-Secretary of State for Public Health and Prevention, was about the launch of the England 2025 Rare Disease Action Plan.


It was a very crowded and lively event with many members of the Rare Disease community coming together to celebrate our collective achievements on the eve of Rare Disease Day.


On Rare Disease Day itself I attended ‘The power of genomics to inform and transform therapies for people with rare genetic conditions: raising awareness for Rare Disease Day’ event.  This event was hosted and funded by both the NHS South East Genomic Medicine Service and the Genomics Clinical Academic Group, which includes both St. George’s University of London and St. George’s Hospital. The event was aimed largely at medical professionals and I attended as a member of the South East Genomic Medicine Service People and Communities Forum.


The medical presentations were very informative and interesting and included:


  • Gene Therapies and achieving cures for Sickle Cell Anaemia and Haemophilia: Are we there yet? By Prof Mickey Koh
  • Hypophosphatasia: the role of Enzyme replacement therapy in adults by Dr Katie Moss
  • New therapies for Lymphovascular disorders by Prof Sahar Mansour


This was followed by a round table discussion about the challenges in accessing and developing therapies for rare disease with patients, families and charities, including another fellow member of the Genomics England Participant Panel, Mel. I found the round table presentations uplifting and inspirational, they included:


  • Mel Dixon from Cure DHDDS. Mel is working to create a treatment pathway for her children’s ultra rare genetic condition
  • Pooja Takhar from The Tuberous Sclerosis Association is working in partnership to advance rare disease drug development and new therapies
  • Emma Heslop from Duchenne Muscular Dystrophy Hub is establishing a clinical trial accelerator network


Finally, NHS England shared our story on their social media channels: LinkedIn, X, Facebook and Instagram, where the combined total of their followers across all 4 platforms is 1,740,395.


It was a busy and rewarding day reminding me how grateful I am to be part of such a wonderful and supportive community.