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.

Violet’s story


From her birth in 2022, Violet had many tests done. In 2023 she was diagnosed with TBCK syndrome. Violet's case was presenting as severe and life limiting. At 11 months old, she passed away. This is her story.

2 images side by side. Each of a young boy with growing hair. In one he sits in an accessibility wheelchair swing. He has his legs outstretched to either side on the railing of the equipment. The other image is a close up of his face with a happy smile on his face.

Jackson’s undiagnosed journey


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.

2 images side by side of a girl who during and after a marathon. She wears her number badge waving and holding up her medal.

Charlotte’s 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’s story


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.

Introducing Evana


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.

Kelly and Avery


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.

Rory’s Story


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.

A girl sat in a wheelchair hold on to the hand of an adult woman with long straight hair. Between them sits a small toy bear that has 'naitbabies' written on it's small shirt.



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.

A young boy lying on is front. He props his head up and looks up to the sky looking to be in deep thought. A pumpkin made from material is sat next to him and he lies on a grey, knitted blanket.

Elijah’s story told by his mum, Lorena


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.

A ‘Manifesto for rare diseases’ ahead of coming General Election


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.