Leveraging Novel Genetic Testing to Better Understand Platelet Biology
Principle Investigators: Joseph Palumbo, MD, & D. Brian Dawson, PhD
Platelet function disorders (PFDs) represent a common, poorly defined group of diseases that are difficult to diagnosis. These challenges stem from our fundamental lack of knowledge regarding platelet biology. To improve diagnostic capability, we have developed the Platelet Disorders Gene Sequencing Panel. This panel is based on a “whole exome slice,” where a whole exome is obtained but analysis is limited to 66 genes known to play a role in PFDs, making it the most comprehensive platelet genetic panel available.
Our research focuses on leveraging the whole exome data obtained through this clinically validated test to fill critical knowledge gaps in our understanding of platelet biology. We are focused on identifying novel candidate causative gene variants for PFDs using whole exome sequencing with a family trio experimental design. In addition, we are working to functionally definine and validate interesting candidate causative gene variants using a combination of in vitro and in vivo techniques. The large number of patients with PFDs seen by Hematology makes the likelihood of finding novel regulators of platelet function high. Indeed, even the discovery of one or two novel regulators of platelet function would be sufficient to leverage these studies into a sustainable research program.