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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 sunshine peeking out the clouds over a field.

Jude’s story

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It took 10 years for Jude to be diagnosed with KBG syndrome. It was a relief for the family to get the diagnosis after so many years of seeking answers. However, they found that not many healthcare professionals had ever heard of KBG syndrome and therefore couldn't offer much support through their journey. When Jude hit secondary education he attended a special school where he flourished, and felt supported. He now has big goals and dreams, despite his condition.

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. 

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.

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