Congenital Platelet Function Disorders


The use of next generation sequencing has significantly improved the ability to identify candidate genes for inherited platelet disorders and variants. These discoveries have also paved the way to further understand the genetic mechanisms of megakaryopoiesis and platelet formation.  Initiatives like the 1000 Genomes Project, ENCODE project, the International HapMap project and other large scale whole genome sequencing projects are invaluable tools in understanding the link between gene variants and disease.

More investigation into the functional consequence of these mutations is ongoing to better understand the role of these genes in human disease.  Functional megakaryocyte and platelet studies are being perfected in order to better match these traits with genetics variants.