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We wish to collect 1,500 DNA samples from individuals with Down syndrome (DS) to create a Down Syndrome Biobank. This will give all those working on DS a powerful resource for identifying the genetic variants that give rise to the different clinical phenotypes seen in DS.
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Finding the relevant genetic variants tells us about the underlying molecular mechanisms in DS, and so will help guide future therapies and significantly improve our understanding of why trisomy of chromosome 21 results in this syndrome. We note that we aim to take forward this initiative in collaboration with American and European DS researchers who are currently trying to set up similar DS Biobanks. Here we propose an ambitious task to establish the UK Down Syndrome Biobank, a necessary resource to carry out genome wide association and functional studies on a number of Down syndrome associated features, which will ultimately lead to the better understanding of disease mechanisms and direct new therapeutic strategies. Importantly, the collection will be available for the scientific community and thus provide a necessary resource for genetic association and functional studies on Down syndrome.