The Webb Lab’s research on Moebius syndrome (MBS) and other congenital facial weakness (CFW) syndromes aims to uncover the genetic and environmental factors underlying these conditions, which profoundly impact social interactions and development. MBS is marked by non-progressive facial paralysis and limited eye movement, and it can include hearing loss, swallowing and breathing difficulties, peripheral neuropathy, limb malformations, and intellectual disabilities. The lab investigates the phenotypic spectrum and causative mutations for CFW, including but not limited to MBS, hereditary congenital facial paresis, and oculoauriculovertebral dysplasia. Previous work has linked mutations in genes like HOXA1, HOXB1, TUBB3, and TMEM8C to various CFW-associated syndromes. By studying these genetic causes in mouse models, the Webb Lab seeks to advance our understanding of nerve, muscle, and bone development, with potential implications for treating intellectual impairment and autism.
Moebius Syndrome Foundation
Dr. Bryn Webb is the research committee chair at the Moebius Syndrome Foundation. When reflecting on this experience she states: "I’ve been deeply impacted by meeting the adults, children, and families affected by Moebius syndrome in my clinical practice and through participation in MSF meetings. Many of these families have been my most memorable and favorite patients. From my first contact with the MSF as a physician in fellowship, I have always been impressed with the advocacy and opportunities provided by the MSF for this rare disease community, and I was eager to become more involved when given the opportunity. The MSF is a phenomenal organization. As a geneticist I evaluate many patients with rare diseases and by far for most diseases, there aren’t strong patient advocacy organizations that can offer families support. The MSF is special – created by a group of parents more than 30 years ago in a living room and has grown to such a powerful organization that does amazing work for this community."