News and stories

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.

A photo of Dr Amber. She takes the photo of herself with her arms stretched out. She wears a blue, medical jacket in a hospital room



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.

Sarah running amongst other in the London Marathon. She runs by Big Ben, a large clock tower at the UK Parliament.

Running for Jack


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.

George’s Mast Cell Activation Syndrome story


In 2019 George began to feel unwell with constant infections, fatigue and gut symptoms which led to a glandular fever diagnosis. And finally an MCAS, Mast Cell Activation Syndrome diagnosis.