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Jorge DiPaola

Director of Basic and Translational Research in Pediatric Hemostasis and Thrombosis


Dr. DiPaola is a physician scientist that dedicates his time between seen patients with bleeding and thrombotic disorders and his laboratory.

The DiPaola laboratory dedicates all efforts to scientific and clinical problems related to the effect that critical components of the hemostatic system, such as platelets and coagulation factors, have on human disease. In the past we have explored the genetics of hemophilia B, the signaling pathways that contribute to the procoagulant response in platelets, including novel roles for mitochondria; the genetic variation of platelet receptors and some of the most common clinical problems caused by defects in these biological systems. Taking advantage of recent advances in genomics we continue to investigate the genetic basis of hemostatic disorders. We have recently identified that mutations in NBEAL2 cause the rare autosomal recessive platelet disorder Gray Platelet Syndrome, a disease characterized by thrombocytopenia and large platelets that lack alpha granules. The discovery of NBEAL2 will likely give new insights into platelet alpha granule biogenesis. Additionally using large pedigrees and nuclear families we study the genetic basis for the phenotypic variability observed in the bleeding disorder von Willebrand disease. Our ultimate hope is that through research we can contribute to the improvement of lives of individuals with bleeding and thrombotic disorders.
 
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