Bringing together the UK rare disease community

Diagnosis with a rare disease - one that affects less than 1 in 2,000 people - can leave a family feeling isolated and alone. But we can support those families and make real progress by bringing the rare disease community together. In December 2019, the NIHR Great Ormond Street Biomedical Research Centre (BRC) invited researchers, patients, families and charities from around the UK to discuss issues facing the paediatric rare disease community today. Hosed in collaboration with Birmingham Women's and Children's Hospital, the London event included talks and discussion on the latest research findings, how to effectively raise awareness and money for rare diseases, and the importance of engaging with patients and families to ensure research has a genuine and meaningful impact.

We know that events like this one help spark ideas, forge partnerships and connect families with others in the community. Working together to support research helps to push forward progress that will make a difference to children and young people with rare diseases.

One attendee said "I learnt so much! Brilliant to have the balance between patients reps, scientist, success stories and journeys, and demonstration of however rare a condition is, you can make a difference."

Charities from across the UK attended the event, helping to raise awareness of their respective rare disease focus areas. These included Caring Matters Now, Duchenne UK, Gauchers Association, Myotubular Trust, Muscular Dystrophy, the Norrie Disease Foundation, Kids with Arthritis, GOSH Charity and Sparks.

Speakers included experts from GOSH, Sheffield and Birmingham, included Emily Reuben, CEO of Duchenne UK and Professor Veronica Kinsler, dermatology expert at GOSH.

GOSH BRC's Junior Faculty (JF) attended the event and took over the @GreatOrmondSt Twitter account to give the wider rare disease paediatric community a chance to engage with the event.

The main event finished with a panel discussion on common barriers in clinical trials, funding, and what the future holds for paediatric rare disease community.

As we navigate the coronavirus pandemic, the rare disease community remains united in its ambition to push forward progress for seriously ill children. We look forward to sharing research breakthroughs with you as experts at GOSH and around the world continue to develop new ways of diagnosing, monitoring and treating childhood conditions.