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.
Featured
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.
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.
The Parkes family have had to battle and fight for everything since Charlie was born. Not having a diagnosis very often means you don’t tick boxes, making the journey a lot harder. Despite this, Charlie has smashed every goal and expectation anyone has ever had about him.
Jackson has a condition so rare, it remains undiagnosed. He's got a long list of different diagnoses but the cause of his complex needs is still unknown. He also has a list of 23 different specialists helping to find answers. Jackson's mum, Bex, tells their story.
Charlotte loves the outdoors and being active by running and walking, which she does even whilst living with, Osteogenesis Imperfecta, more commonly known as Brittle Bone Disease. This is her story of how it doesn't stop her doing the things she loves.
Alana was taken to the NICU immediately from birth causing a lot of worry to her family. Now, years later, she still has to visit hospital, which sometimes involves a stay. However, this doesn't stop Alana bringing so much joy to her family. Read all about her journey so far, told by her mum.
Kayley's daughter, Evana has 15q11.2 microdeletion, which they discovered after a genetic test. Kayley is part of the SWAN UK community. This is her story.
Congenital Muscular Dystrophy (CMD) affected individuals, Kelly and Avery are making their voices heard. Together they hope to tackle misconceptions surrounding disability and give a loud voice to the, often forgotten, rare community.
During his newborn hearing tests, Rory didn't respond. After consenting to look into the cause of the hearing loss, Rory and his family went through years of tests and challenges, along with a rollercoaster of emotions before receiving the diagnosis of a rare genetic disorder called wolfram syndrome. This is Rory's story.
Thea founded Naitbabies in 2011 after her granddaughter was diagnosed with fetal neonatal alloimmune thrombocytopenia (FNAIT). She talks about her family's story and about the incredible work of the charity.
