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.
This year’s theme for Rare Disease Day 2025 is ‘More than you can imagine’ and Tilly's story really has turned out more than she could ever have imagined; a story which proves rare does not mean impossible.
It took 10 years for Jude to be diagnosed with KBG syndrome. It was a relief for the family to get the diagnosis after so many years of seeking answers. However, they found that not many healthcare professionals had ever heard of KBG syndrome and therefore couldn't offer much support through their journey. When Jude hit secondary education he attended a special school where he flourished, and felt supported. He now has big goals and dreams, despite his condition.
Launch of national conversation to shape the Government’s 10 Year Health Plan Statement from Mark Flannagan, Chief Executive of Genetic Alliance UK
Dylan lives with TBR1 related disorder, a condition which means he will need support for the rest of his life. His mum, Jemma, talks about the challenges and worries of having a child with a rare condition but also the joys it can bring.
Luis is diagnosed with Nascimento X-linked intellectual disability. Now his family is doing all they can to raise awareness and build a community for others. This is their story
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.
Keir lives with Poland syndrome, characterised by under-developed or missing chest muscle. After years of feeling uncomfortable with his body Keir is now hoping to win powerlifting championships across the world and show that nothing is impossible when living with a rare condition.
Elizabeth has ocular Lambert-Eaton myasthenic (LEMS). It took 3 years to receive a diagnosis. In that time she received several misdiagnoses and ended up having to take early retirement. Learn more about myasthenia by visiting Genetic Alliance UK member, MyAware’s website.
Nisha has Congenital Myasthenia Syndrome. In this blog she shares the stats around her story and answers questions on what life is like with her condition. June is Myasthenia Awareness Month, join in by visiting Genetic Alliance UK member, MyAware's website.
