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.
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To recognise Rare Disease Day 2025, our community will be coming together at these events with parliamentarians, health professionals, policymakers, researchers, people affected by rare conditions and support organisations.
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.
Genetic Alliance UK's Chair Elizabeth (Liz) Porterfeld has been awarded a Member of the Order of the British Empire (MBE) for services to people with rare diseases in the King's Birthday Honours List on Saturday 15 June, 2024.
Stuart has ocular myasthenia gravis. He shares how the diagnosis has affected his life. Learn more about myasthenia and how you can get involved in Myasthenia Awareness Month in June 2024, by visiting Genetic Alliance UK member, MyAware's website.
Lois has myasthenia gravis. Read her story below and learn more about the condition and how to get involved in Myasthenia Awareness month in June 2024, by visiting Genetic Alliance UK member, MyAware's website.
Gem has had many diagnoses over the years, and has had to adjust to what a ‘successful’ day looks like for her.
Neal's journey started in 2012, and led to a diagnosis of Complex Regional Pain Syndrome and Bone Marrow Oedema. Through his journey he has found ways to make his life easier, including being prepared to meet healthcare professionals who have never heard of the condition.
Amber is a doctor and lives with Gitelman syndrome, a condition that causes severe salt wasting. Her position as both a doctor and someone living with a rare condition gives her a unique insight into the rare world. This has been her journey so far.
Jack lives with Tricho Hepato Enteric Syndrome, a rare genetic condition that doesn't have a support charity dedicated to it. A close family friend of Jack's, Sarah, ran the London Marathon in 2024 to raise money for Rare Disease UK. Jack shares their fundraising journey and why they chose our charity to support.
Karen has Pregnancy Associated Osteoporosis. The condition has forced a difficult, limited and restricted life which has been made harder with the lack of well coordinated care. This is her story.
