Yale Medical Library Event: "Using a Variant Analysis Tool to Study Rare Mendelian Disorders"

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Bryn D. Webb, MD - Dr. Webb is a clinical geneticist and physician scientist with an interest in the genetics of congenital anomalies.  She is an Assistant Professor in the Departments of Genetics and Genomic Sciences and Pediatrics at the Icahn School of Medicine at Mount Sinai.  Her prior work has included identifying the causative disease gene (HOXB1) for hereditary congenital facial paresis, type 3 (MIM 614744).  More recent work has included identifying a novel disorder caused by recessive, single nucleotide variants in MARS2 (MIM 616430).  Affected patients presented with clinical features of developmental delay, growth failure, and sensorineural hearing loss.  Current research includes utilizing whole exome sequencing and targeted custom panels to identify novel causative disease genes in patients with Moebius syndrome, congenital facial paralysis, and tibial hemimelia.  Additional clinical and research interests include identifying Ashkenazi Jewish founder mutations and studying the utility of whole exome sequencing in the prenatal setting.