CPHR Seminar Series - Theodore Drivas

Описание к видео CPHR Seminar Series - Theodore Drivas

Seminar Title: Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing

April 25, 2024 - Theodore Drivas is a Clinical Geneticist and an Assistant Professor of Medicine at the University of Pennsylvania in the Division of Translational Medicine and Human Genetics where he serves as the Assistant Director of Scientific Outreach for the PennMedicine BioBank. Through his clinical work, focusing on the care of adult patients with known or suspected genetic conditions, he has established himself as a dedicated advocate for the advancement of genetic testing in adult populations to improve patient outcomes and combat disparities and inequities in genetic medicine. Outside of the clinic, the Drivas Lab is engaged in pioneering research at the intersection of common and rare disease genetics, leveraging the latest in informatic, molecular, and translational research techniques to elucidate the complex genetic architecture that underlies human disease. The lab focuses on identifying and validating genetic pathways and interactions that act together to perturb fundamental cellular processes important to human health, with a particular focus on the complex cellular organelle known as the primary cilium, and its involvement in both rare syndromic and common complex disease pathogenesis.

The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health. Speakers are selected by CPHR faculty and cover research topics of interest to a wide audience.

Relevant Links:
CPHR Seminar Series: https://www.genome.gov/cphr/seminars
Theodore Drivas: https://www.pennmedicine.org/provider...

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