Seminar – Bryn Webb, MD, FACMG – “N=1 Discovery: Diagnosing Rare Disease Through Single-Patient Investigation”

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John D. Wiley Conference Center, Room T216
@ 12:00 pm - 1:00 pm
John D. Wiley Seminar Series

Bryn Webb, MD, FACMG
University of Wisconsin-Madison
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About the Speaker: Dr. Bryn Webb is associate professor in the Division of Genetics and Metabolism and the UW Center for Human Genomics and Precision Medicine and Director of the Undiagnosed Disease Program. In addition, Webb serves as attending physician with clinical genetics privileges in the University of Wisconsin Hospitals and Clinics, and she has the continuing role of adjunct assistant professor in the Department of Genetics and Genomics Science with the Icahn School of Medicine at Mount Sinai (New York). She is a board-certified pediatrician, clinical geneticist, and clinical molecular geneticist.

Webb’s lab focuses on better understanding the genetics and pathophysiology of rare, Mendelian disorders. She has a particular interest in undiagnosed rare disease, Moebius syndrome and related facial weakness conditions, and mitochondrial disorders. Webb’s laboratory also models human disease using cellular and animal models.  She has developed mouse models of MARS2 deficiency and hereditary congenital facial paresis, which she uses to elucidate the altered transcriptome and molecular networks in these disorders.  More recently, Webb has developed iPS models for studying POU4F1 disorder as well as disorders of mitochondrial aminoacyl-tRNA synthetases.

Webb is a Moebius Syndrome Foundation Board Member.

For Further Information, Contact: Clark Kellogg at kellogg@waisman.wisc.edu
The seminar series is funded by the John D. Wiley Conference Center Fund, the Friends of the Waisman Center and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) grant P50HD105353.

Bryn Webb, MD, FACMG