Congratulations to Dr. Bryn Webb and her colleagues for their recent publication in Nature Genetics! The paper, titled “Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis”, can be read here. This paper is an early example of using whole genome sequencing to define the pathogenesis of rare, unsolved genetic disease and serves as an example of how to move forward to elucidate genetic mechanism in noncoding regions with coupling of a hypotheses with very detailed studies to define pathogenesis.
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. She also serves on the Board of Directors for the Mobius Syndrome Foundation. Her 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)
You can read more about her research at the PubMed link below.