Welcome to the Webb Lab page!

Our lab seeks to identify the genetic etiologies of rare Mendelian disorders and further study the pathophysiology of these diseases.

Two main studies in the Webb lab include:

1) Genetic Studies of Congenital Anomalies.  Congenital anomalies or birth defects are a significant cause of pediatric morbidity and mortality. About 2 to 3% of infants worldwide are born with a birth defect. Birth defects may be caused by genetic and/or environmental factors. The purpose of this study is to better define the genetic etiologies of a wide variety of congenital anomalies.  Specific focuses of this project include the further study of congenital facial weakness and Moebius syndrome.

2) Integrative Approach to Study Mitochondrial Aminoacyl-tRNA Synthetase Disorders.  Mitochondrial aminoacyl-tRNA synthetases (mt-ARSs) are essential for protein synthesis in the mitochondria and generation of oxidative phosphorylation (OXPHOS) system components. These proteins are nuclear-encoded and function to charge the mitochondrial tRNA molecules with their cognate amino acids.  Recently, pathogenic variants in multiple mt-ARSs have been identified and the associated conditions represent a new class of Mendelian disorders. Our lab identified one of these newly recognized mt-ARS disorders, an autosomal recessive syndrome presenting in infancy with features of developmental delay, sensorineural hearing loss, and growth failure caused by single nucleotide variants in MARS2 (methionyl-tRNA synthetase 2).  The aim of the current study is to better understand the pathophysiology/disease mechanism of all mt-ARS disorders in order to provide the groundwork to create better treatments for these conditions.

If you are a patient or family member interested in enrolling in our research studies, please email Dr. Webb at bryn.webb@mssm.edu .