Rare Disease: The GP's role

This short film tells the story of Lewis and his family. Lewis has Batten disease, a rare neurodegenerative disorder that begins in childhood. Lewis’s mum Samantha talks about their struggle for a diagnosis and the impact a rare disease has had on the entire family.

Dr Nadeem Qureshi provides practical insight and advice for GPs who have patients with suspected rare diseases. Professors Sir John Burn and Mark Caulfield discuss the role that research, specifically the 100,000 Genomes Project, can play in helping to diagnose and treat patients with rare diseases.

For more information please see https://www.genomicseducation.hee.nhs.uk

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  • Education

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