Mustafa Kezar Khokha MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Departments & Organizations

Yale Combined Program in the Biological and Biomedical Sciences (BBS): Molecular Cell Biology, Genetics and Development

Animal Organogenesis

Pediatrics: Pediatric Critical Care Medicine

Genetics: Khokha Lab


We are interested in how embryonic pattern is generated. During development, the egg which exhibits cylindrical symmetry must undergo a number of symmetry breaking events 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.

We have two main approaches: Xenopus genetics and an analysis of human congenital malformations. Using the frog, Xenopus tropicalis, as an efficient vertebrate model system, we are developing genetic tools to dissect these gene regulatory networks. We are performing forward and reverse genetic screens to identify mutants that affect early embryonic patterning. In addition, we are developing new technologies to create F0 transgenic Xenopus embryos to rapidly and easily analyze cis- regulatory elements that are essential to the formation of regulatory genetic networks.
Lastly, the remarkable advances in human genetics is transforming our understanding of the causes of congenital malformations. Traditionally, very challenging, new tools mean that mutations can be identified. In our 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.


  • B.S., Northwestern University , 1991
  • M.D., Northwestern University Medical School , 1995

Selected Publication

  • Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. PNAS. 2011 Jan 31.

Latest Honor and Recognition

  • Pediatric Scientist Development Program (PSDP) Fellow (06//1996)