In 2011, Noah and family were asked to join the Genotyping and Phenotyping of Platelets (GAPP) research programme based at the University of Birmingham. In order to learn more about the rare condition, the research group were searching for information to increase awareness of the causes of PFDs. As stated on the GAPP website :
“Disorders of platelet function giving rise to bleeding are rare occurrences, often presenting with mild symptoms which make the study of this disease particularly challenging. As a consequence, little is known about the natural history of bleeding disorders, and their treatment remains under-studied. Therefore, studying people with bleeding disorders provides crucial information on this rare disease and increases our awareness of the causes of mild bleeding in people with inherited disorders. Moreover, the study of people who have bleeding problems due to a defect in platelet function provides information on the importance of certain proteins in platelet function. These proteins could potentially be used as new targets for the development of novel antiplatelet agents.”
Indeed, the project has had some significant results which have been highlighted within The Guardian and The Observer on-line. We continue to support the programme, so it can help Noah and other people like him.