Mustafa Kezar Khokha MD
Associate Professor of Pediatrics (Critical Care) and of Genetics
Departments & OrganizationsYale Combined Program in the Biological and Biomedical Sciences (BBS): Molecular Cell Biology, Genetics and Development
Pediatrics: Pediatric Critical Care Medicine
Genetics: Khokha Lab
We are interested in how embryonic pattern is generated and the resultant congenital malformations that occur when patterning fails. During development, the egg must enact a cascade of gene regulation in order to form the vertebrate body plan and establish correct pattern along the body axes. We are deeply interested in the gene regulatory networks that are necessary to create critical signals in specific embryonic locations at appropriate developmental stages. These signals must be carefully orchestrated in order to generate forms that are essential to function and the overall fitness of the organism.
Our main approach is gene discovery from patients with congenital malformations, and then study them in our rapid, human model, Xenopus tropicalis. Recently, the remarkable advances in human genetics/genomics is transforming our understanding of the causes of congenital malformations. Traditionally gene discovery in these patients was very challenging, but new sequencing technologies enable gene discovery in these patients.. In human studies, we have identified many new genes and are analyzing their patterning mechanisms in Xenopus. Combining human genetics with a high-throughput model system has allowed us to discover new genetic mechanisms and novel understanding of how development proceeds.