Getting to the bottom of rare genetic diseases (The One Show)

Samples from children with rare diseases and their families are sent to the Sanger Institute for genomic analysis

Samples from children with rare diseases and their families are sent to the Sanger Institute for genomic analysis

Broadcaster: BBC1

Year: 2014

Genre: Factual, Magazine Show

URL: http://bobnational.net/record/262307

This 5 minute piece from BBC One’s flagship magazine show (3rd December 2014) looks at the role being played by genomics and supercomputing to reveal the underlying basis of rare diseases. The Deciphering Developmental Disorders (DDD) project targets illnesses with an unknown cause. The section takes the example of Freya who has a range of symptoms including developmental delay and albinism. She and her family are having their DNA examined to see if the genetic mutation(s) responsible can be be identified. Freya is pictured at home using the DNA swab in her mouth to collect her genetic material which is then sent to the Sanger Centre in Cambridgeshire for analysis. So far, over 1000 children have taken part in the research and for about a third the genetic basis of their condition has been determined.

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