BPD (bleeding and platelet disorders)

Summary

Editor's note: "Gene Docs" is an application used by researchers analysing rare genetic variants at the University of Cambridge High Performance Computing Service.

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Platelets are the 2nd most abundant cell in the blood and play an important role in bleeding disorders. Our research group wants to improve the rate in which people with inherited bleeding disorders are diagnosed. DNA from patients with bleeding disorders was analysed for changes and these changes have been stored in a large database named ‘Chromoscope’. We would like to compare DNA changes from individuals with inherited bleeding disorders and those from healthy individuals. By studying these changes, we can study if these differences are related to changes in platelet function or their formation. This may help us to better understand why some people inherit bleeding disorders and some don’t.