A Moment With...
Learn about genomics, genetics and 'omics research right from the source as we interview faculty members from the Precision Genomics Collaboratory.
Jennifer Cohen, MD, is an assistant professor of pediatrics in the division of medical genetics. Cohen's research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases.
Priya Kishnani is the Chen Family Distinguished Professor of Pediatrics and a pediatrician with a subspecialty in clinical and biochemical genetics. She is an expert in lysosomal storage disorders (LSDs), including Pompe disease, Gaucher disease, Fabry disease and mucopolysaccharidoses (MPS) disorders.
Vandana Shashi is a professor of pediatrics at Duke University. She spoke with Precision Genomics Collaborator Director Svati Shah about her career and her passion for finding diagnoses for rare diseases as part of the Undiagnosed Disease Network.
Rasheed Gbadegesin, MBBS, MD is a Professor of Pediatrics and Nephrology. Dr. Gbadegesin's research is focused on understanding the critical pathways that are involved in the pathogenesis of nephrotic syndrome and in congenital malformations of the kidney and the urinary tract.
Doug Marchuk is co-director of the Precision Genomics Collaboratory. He is a professor of molecular genetics and microbiology and has been at Duke since 1993. The Marchuk Lab uses genetics and genomics to study vascular diseases including cerebral cavernous malformations.
Greg Wray, Ph.D., director of the Center for Genomic and Computational Biology and a professor of biology and evolutionary anthropology, discusses COVID-19 sequencing efforts at Duke.
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