Bleeding and Platelet Disorders (access to 'Chromoscope' data platform)
Mr Koenraad De Wispelaere
Institution or company
University of Leuven (Centre for Molecular and Vascular Biology), Belgium
Genomics and Rare Diseases, Haematology
Platelets are the second most abundant cell in the human blood and play an important role in blood clotting. Our research group wishes to quicken the time it takes for people with inherited (genetic) disorders in platelets / blood clotting to be diagnosed.
DNA from patients with bleeding disorders have been analysed for changes in their genetic sequences and these changes have been stored in a large database named ‘Chromoscope’.
For our research, we would like to compare DNA sequences from individuals with inherited bleeding disorders with those from healthy individuals. By studying these changes, we can investigate if these differences are related to alterations in platelet function or their formation. This research we hope will lead us to better understand why some people inherit blood bleeding disorders whilst some do not.
The researchers behind this study are looking to further understand the genetic basis of this condition through accessing data on genotypes related to blood platelet disorders held on the University of Cambridge’s 'Chromoscope’* data platform.
* ‘Chromoscope’ is a data platform used by researchers wishing to analyse rare genetic variants. For the NIHR Bioresource Rare Disease Project, DNA from consenting participants was collected and their genetic information was stored for future research use. In order for this data to be anonymously accessed for research purposes the NIHR BioResource created an application called ‘Chromoscope’ (previously known as ‘Gene Docs’). ‘Chromoscope’ allows approved researchers to access this genetic data. Before access is given researchers must submit an application to the NIHR BioResource requesting access. The BioResource reviews these applications and if approved, researchers are given access to the required anonymised data.