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Mustafa Khokha, MD

Professor of Pediatrics (Critical Care Medicine)

Contact Information

Mustafa Khokha, MD

Patient Care Location

Lab Location

  • Laboratory for Surgery, Obsterics & Gynecology
    375 Congress Avenue, Ste LSOG 402
    New Haven, CT 06519

Office Location

Mailing Address

  • Pediatric Critical Care Medicine

    PO Box 208064

    New Haven, CT 06520-8064

    United States



We are interested in the molecular mechanisms that cause critical illness in infants and children. We enroll patients with birth defects or other critical illness that cannot be explained by an acquired illness and perform exome sequencing in order to identify candidate genes that may explain the child's disease. Then we model the candidate gene in order to understand its function. In the context of birth defects, we employ the high-throughput human disease model, Xenopus tropicalis in which we can knockout desired genes and examine phenotypes in just three days.

Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery efficient but we can rapidly model the human disease and understand gene function in model organisms or patient cells.

Education & Training

  • Fellow
    Molecular & Cell Biology, University of California, Berkeley (2006)
  • Fellow
    Pediatric Critical Care, University of California, San Francisco (2002)
  • Resident
    Resident Pediatrics, St. Louis Children's Hospital, 1995-98 (1998)
  • MD
    Northwestern University Medical School (1995)
  • BS
    Northwestern University (1991)

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