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.

Gem’s story


Gem has had many diagnoses over the years, and has had to adjust to what a ‘successful’ day looks like for her.

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.

Coordinating my care – an ongoing personal battle


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.

Autiemum and Max: Our rare story


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 and Jamie – Boccia UK


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.

Liz’s NF1 story – This is the real me


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.

Jane’s story


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.