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.
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Undiagnosed genetic conditions can impact children in very different ways. As a result their impact on you and your family can also vary widely.
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What does it mean to have a genetic condition, how are genetic conditions diagnosed and why do some genetic conditions remain undiagnosed? Watch our animations to find out.
We're delighted to share a new report that Genetic Alliance UK has developed on behalf of the Policy Working Group of the LifeArc Translational Centres for Rare Disease Hub: ‘More trials, better data, faster access: Opportunities to innovate in translational research for rare conditions.’
New report on how to address structural and cultural barriers to PPIE in academic research
In 2020, Celine Lewis, a behavioural scientist who previously worked at Genetic Alliance UK, embarked on a project to look at the delivery of whole genome sequencing in the NHS (the Genomic Medicine Service, or GMS). The focus was on how well the GMS is working in the diagnosis of rare diseases in children in England. It examined how the new service was rolled out, how prepared healthcare professionals felt, communication practices, parents’ experiences, and psychological impacts. Here she explains some of the work she and her team conducted and the key findings.
Launch of national conversation to shape the Government’s 10 Year Health Plan Statement from Mark Flannagan, Chief Executive of Genetic Alliance UK
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.
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.
