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.

Our Rare Disease Day 2025 event pages are now live

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To recognise Rare Disease Day 2025, our community will be coming together at these events with parliamentarians, health professionals, policymakers, researchers, people affected by rare conditions and support organisations.

Our Rare Story – FoxP2

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Receiving a diagnosis can help bring clarity. In our recent blog we hear about a daughter who has been diagnosed with FOXP2 related speech and language disorder. We learn about the challenges that comes with this rare condition, and about the advancements in research and incredible organisations that are around to support people with this conditions. 

Dylan’s story

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Dylan lives with TBR1 related disorder, a condition which means he will need support for the rest of his life. His mum, Jemma, talks about the challenges and worries of having a child with a rare condition but also the joys it can bring.

Sally Kidson’s Paralympic boccia journey

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Sally is 19 years old and has Spinal Muscular Atrophy type 2. She is a boccia player on the Boccia UK World Class Programme and making her Paralympic debut in Paris August 2024, before she starts university to study Music in September. In this blog Sally talks about her boccia journey to date and how people can get involved.

Headshot of a young boy who lives with a condition called Nascimento X-linked intellectual disability

Luis’ story

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Luis is diagnosed with Nascimento X-linked intellectual disability. Now his family is doing all they can to raise awareness and build a community for others. This is their story

An open letter to the new Government:

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Genetic Alliance UK have written an open letter to the new Government, calling for a renewed commitment to supporting people with genetic, rare and undiagnosed conditions in the UK. 

Head shot of Keir. He has a grey beard and short grey hair that is swept over to one side on top of his head

Keir’s powerlifting journey

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Keir lives with Poland syndrome, characterised by under-developed or missing chest muscle. After years of feeling uncomfortable with his body Keir is now hoping to win powerlifting championships across the world and show that nothing is impossible when living with a rare condition.

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

Running for Jack

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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.

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

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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.