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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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.
After a year of unusual development traits and epilepsy, Elijah received the diagnosis of MEF2C Haploinsufficiency Syndrome. Elijah is now 4 years old and life still throws it's challenges for the family. This is their story so far.
Genetic Alliance UK and the SHCA have come together ahead of the General Election to develop a joint manifesto for people with rare conditions. While they are individually rare, collectively rare conditions are common – 1 in 17 people are affected, equating to 3.5 million in the UK alone.
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.
A rare condition is defined as one that affects fewer than one person in 2,000. But collectively, rare conditions are more common than you might imagine. 1 in 17 of the UK population will be affected at some point in their lives.
ITN Business partners with Genetic Alliance UK to produce news-style programme ‘Rare Conditions: The Stories Behind the Stats’
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.
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.
