Position title: Associate Professor
Genetics and Pathophysiology of Mendelian Disorders
Dr. Bryn Webb is an Associate Professor in the Department of Pediatrics and the Division of Genetics & Metabolism. She is a board-certified pediatrician, clinical geneticist, and clinical molecular geneticist.
Dr. 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. 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)
Dr. Webb’s laboratory also models human disease using cellular and animal models. Dr. Webb 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, Dr. Webb has developed iPS models for studying POU4F1 disorder as well as disorders of mitochondrial aminoacyl-tRNA synthetases.
Dr. Webb is a Moebius Syndrome Foundation Board Member.