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.
Jazz is part of the SWAN UK community, SWAN stands for syndrome without a name, a condition so rare that it doesn't have a name. In this blog she talks about her having a son with an undiagnosed condition.
Scott, 32, and Jamie McCowan, 28, are brothers and live in Scotland. They both have Duchenne Muscular Dystrophy and they have both achieved incredible careers in the sport of boccia, travelling the world and competing at the Paralympic Games.
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.
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.
Tammy went through lots of tests and people telling her that symptoms were psychological before she finally got her diagnosis of eosinophilic gastroenteritis.
Elle has been diagnosed with Postural Orthostatic Tachycardia Syndrome, Elhers Danlos type 3 and Gastroesophageal reflux disease. However this hasn't stopped her achieving her goals.
