The Morton S. and Henrietta K. Sellner Professorship in Human Genetics supports a faculty member in the Department of Human Genetics who is making significant contributions to defining and treating human inherited diseases. Dr. Jeffrey Innis was the inaugural Sellner Professor and held this appointment until his retirement from the University in December 2021. Dr. Bielas’ research program focuses on defining the locus and allelic heterogeneity of human neurodevelopmental disorders. To do this, she works closely with patients, advocacy groups, and clinicians to collect patient DNA samples and to scrutinize them for disease-causing variants. In doing so, she has implicated several genes and alleles in disease onset and has assisted in the diagnostic odyssey for several patients and their families; this is the first essential step toward defining disease mechanisms and designing and implementing therapeutic strategies. Remarkably, Dr. Bielas has performed significant outreach including developing a collaboration with clinicians in the Department of Medical Genetics, Kasturba Medical College (KMC), India toward improving disease gene identification in understudied populations. At KMC, Dr. Bielas holds an adjunct appointment and, in addition to her human genetics research there, teaches courses that define clinical indications for new medical genomic testing options, variant annotation, test result interpretation, and the delivery of test results to families. Dr. Bielas has a continuous record of NIH funding and has received several awards for her research accomplishments including the 2017 Simons Foundation Directors Award and the Pathway to Independence Award from the NIH.
Dr. Bielas is a major contributor to the Department and University communities: she serves as the Associate Chair for Research in Human Genetics; she serves on the Department’s faculty recruitment committee; she has significant teaching responsibilities including serving as the director of an undergraduate course titled “Neurobiology of Developmental Disorders”; and she consistently attends student and faculty seminars and provides helpful suggestions. Dr. Bielas is highly regarded as an outstanding human geneticist and is actively involved with patient advocacy groups and with the American Society of Human Genetics, for which she currently serves on the annual meeting Program Committee.
Congratulations Stephanie!
