Bryn Webb, MD

Education

BS, University of Texas at Austin, Austin, Texas
MD, University of Texas Southwestern Medical School, Dallas, Texas
Pre-doctoral Fellowship, National Human Genome Research Institute (NHGRI), Bethesda, Maryland
Residency, Combined Pediatrics and Medical Genetics Residency Program, Icahn School of Medicine at Mount Sinai, New York City, New York
Fellowship, Clinical Molecular Genetics Fellowship, Icahn School of Medicine at Mount Sinai, New York City, New York

Professional Activities

Dr. Bryn Webb is associate professor in the Division of Genetics and Metabolism. She is also associate professor in the core faculty of the UW Center for Human Genomics and Precision Medicine. 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.

Clinical Interests

Webb’s main clinical focus is on clinical molecular genetics.

Research Interests

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. Her prior research accomplishments have included identifying the genetic etiology for the following disorders, among others:

• Hereditary congenital facial paresis, type 3 (HOXB1)
• Combined oxidative phosphorylation deficiency, 25 (MARS2)
• Combined oxidative phosphorylation deficiency, 32 (MRPS34)
• Townes-Brocks syndrome, 2 (DACT1)
• Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (POU4F1)
• Intellectual disability caused by a disorder of N-terminal acetylation (NAA20)

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.