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Mustafa Khokha MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Contact Information

Mustafa Khokha, MD

Patient Care Location

Lab Location

  • Fitkin Memorial Pavilion
    789 Howard Avenue, Ste FMP 425
    New Haven, CT, 06519

Office Location

Mailing Address

  • Pediatric Critical Care Medicine

    PO Box 208064

    New Haven, CT, 06520-8064

    United States

Mustafa Khokha
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We are interested in how embryonic pattern is generated and the resultant congenital malformations that occur when patterning fails. During development, the egg must activate a cascade of genes in order to form our body structure 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.

Education & Training

  • MD
    Northwestern University Medical School (1995)
  • BS
    Northwestern University (1991)
  • Fellow
    Molecular & Cell Biology, University of California, Berkeley
  • Fellow
    Pediatric Critical Care, University of California, San Francisco
  • Resident
    Resident Pediatrics, St. Louis Children's Hospital, 1995-98

Honors & Recognition

AwardAwarding OrganizationDate
Mallinckrodt ScholarEdward Mallinckrodt, Jr. Foundation2014
Mae Gailani Junior Faculty Teaching AwardYale University2010
Harvey Colten AwardWashington University2009
Pediatric Scientist Development Program (PSDP) Fellow1996
Kingsley Fellowship in Medical Research1996
Howard Hughes Medical Institute Medical Student Research Fellow1993

Departments & Organizations