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.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
