Description

Please join us for our next webinar with Dr. Sarah Sheppard, MD, Ph.D., Clinical Tenure Track Investigator at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The title of her talk is “Genomics informs precision medicine for vascular malformations." The focus of her translational research group is to develop more efficacious therapies for individuals with malformations of the lymphatic system. Please note: This webinar will NOT be recorded.

Abstract: Vascular malformations are devastating disorders with high morbidity and mortality. Identifying the genetic driver of the malformation can lead to life-saving therapy and alter treatment. The objective of this talk is to demonstrate how genetic diagnosis can change medical management for individuals with vascular malformations. In this talk, I will highlight the problems in diagnosis and treatment related to vascular malformations. I will discuss the common genetic pathways involved. I will highlight studies from my lab evaluating MEK inhibitors in preclinical studies, as well as possibly unpublished studies evaluating other pathway inhibitors. I will also highlight examples from other labs as well. Finally, I will discuss how these preclinical studies have resulted in drug repurposing in off-label or n of 1 trials to demonstrate that precision medicine can lead to significant clinical improvement.