march, 2021

thu18mar4:00 pm5:00 pmEvent OverVirtual EventWhy Care About Rare4:00 pm - 5:00 pm Program:ThursdaySeries:Precision Medicine

Event Details

On the 3rd week of each month, the Institute of Clinical and Translational Sciences invites inventors, scientists, and entrepreneurs to share lessons learned from taking ideas from the lab to the marketplace.

Dr. Jorge Di Paola and Dr. Megan Cooper investigate rare genetic disorders of blood cells, with Dr. Di Paola focusing on diseases affecting platelets and Dr. Cooper studying dysfunction of immune cells. They will discuss their ongoing efforts to identify new diseases that have the potential to lead to targeted therapies for patients and an understanding of pathways important for human health that can be used to design drugs and other diseases.


Megan Cooper, MD, PhD
Associate Professor, Rheumatology
Washington University St. Louis

Megan Cooper is a Pediatric Rheumatologist and Immunologist, and Director of Clinical Immunology. Her laboratory is focused on mechanisms of immune cell control, including regulation of natural killer cell activation and mechanisms driving pediatric immune-mediated disease.

Jorge Di Paola, MD
Professor of Pediatrics, Division Chief, Hematology & Oncology
Washington University St. Louis

Dr. Di Paola’s research focuses on the genetics of bleeding and thrombotic disorders and mechanisms of platelet activation. His laboratory has made discoveries on the genetics of von Willebrand disease, signaling pathways that contribute to the procoagulant response in platelets, novel roles for platelet mitochondria and the genetic variation of platelet receptors. More recently his research focuses on Megakaryopoiesis and its role on bone marrow homeostasis. His laboratory has found disease causing genes for thrombocytopenia disorders as well as a cancer predisposition syndrome. Specifically, that mutations in NBEAL2 cause the elusive Gray Platelet Syndrome and that mutations in ETV6 cause thrombocytopenia and predisposition to leukemia. These discoveries have set the stage for potential new therapies.


(Thursday) 4:00 pm - 5:00 pm


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Washington University School of Medicine