All of the latest news and updates from Genetic Alliance UK can be found below. This includes the release of our latest reports and findings, as well as pieces that our member organisations have requested that we share.
We also share stories, images and experiences from those living with genetic, rare and undiagnosed conditions. Individuals affected by these conditions are at the heart of everything that we do and we want to champion these communities by amplifying their voices, individually and collectively.
If you’d like to have your story included on our website then get in touch.
Featured
Sally is 19 years old and has Spinal Muscular Atrophy type 2. She is a boccia player on the Boccia UK World Class Programme and making her Paralympic debut in Paris August 2024, before she starts university to study Music in September. In this blog Sally talks about her boccia journey to date and how people can get involved.
Featured
Genetic Alliance UK have written an open letter to the new Government, calling for a renewed commitment to supporting people with genetic, rare and undiagnosed conditions in the UK.
For Rare Disease Day, Nerve Tumours UK are raising awareness by focusing on stories that highlight the impact of NF (the group name for Neurofibromatosis Type 1, NF2-related-Schwannomatosis and Schwannomatosis) every day. They want to #MakeNFVisible. This is Liz's story.
For Rare Disease Day 2024 we want to raise £17,000 to support the 1 in 17 people in the UK who will be affected by a rare condition during their lifetime
Over 2 pregnancies, Jane lost 5 inches in height due to the rare condition, Pregnancy-and-Lactation Osteoporosis. It took years to diagnose and there wasn't much support until she found a group on Facebook. Read Jane's story below.
Helen is a SWAN UK Parent Rep for Nottingham, Oxfordshire and Berkshire. After 19 years her son was diagnosed with hypermobile Ehlers-Danlos syndrome.
You can now fundraise for Genetic Alliance UK, SWAN UK and Rare Disease UK on our new JustGiving page.
For Rare Disease Day 2024, Rebecca Starkie, Senior Global Patient Engagement Director, Advanced Clinical, shares some patient insights and talks about the challenges and innovations in clinical research.
From her birth in 2022, Violet had many tests done. In 2023 she was diagnosed with TBCK syndrome. Violet's case was presenting as severe and life limiting. At 11 months old, she passed away. This is her story.
The Big Sunflower Project aims to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy by asking people to grow a sunflower and share their sunflower photos online. The project was established in 2011 after founder Toni Abram and her father Mike were diagnosed with centronuclear myopathy.
Anthony was diagnosed with ITP in July 2006. In 2024 he realised that the rare auto immune disorder has taken up 28 per cent of his life.
