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Video: rare disorders of the insulin receptor
Video: owen's story
Prof Krishna Chatterjee relates how Owen came to be diagnosed with a rare condition through the 100K genomes project.
Download: National Severe Insulin Resistance Service update
Website: Genetics of Obesity Study
Website with useful explainers and downloads.
Video: Congenital Hypothyroidism
Video: Why is rare disease so important?
In this very short film, Stephen O'Rahilly explains that the ability to study patients with rare disease is enormously important for research into rare but also commoner forms of disease.