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Mustafa Khokha, MD

Professor of Pediatrics (Critical Care Medicine)
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About

Titles

Professor of Pediatrics (Critical Care Medicine)

Biography

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.

Appointments

Other Departments & Organizations

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)

Research

Overview

My laboratory is interested in the problem of birth defects that occur when embryonic patterning fails to occur properly. A fertilized egg must activate a complex genetic program in order to form functional adult structures. Failure to do so correctly leads to congenital malformations in children, the main cause of infant mortality in the US. We are particularly interested in cellular signals and transcriptional regulation that lead to particular fate changes that specify new tissue types during development. We are also interested in morphogenesis that provides shape to the developing embryo.

Our main approach is to analyze genes identified in infants and children that have birth defects.

We focus on Xenopus as a model system because it is the most closely related human model that is easily and rapidly manipulated. Also there are many congenital malformation genes to analyze and the low cost of Xenopus allows us to study many of these genes by engaging in high-throughput screens. Our main focus is:

  • Analysis of human mutations using Xenopus We have identified a number of genes that are mutated in patients that have congenital heart disease, a failure to properly pattern the heart. We have validated a number of these genes by showing that they also cause abnormal development of frog hearts and are now analyzing the mechanisms of their development. Many of these genes are novel and identifying their mechanisms of cardiac morphogenesis will lead to new understanding of congenital malformations and the underlying developmental biology. We are looking to expand to other organ systems as well including the patterning of the face and other organ systems.

Medical Subject Headings (MeSH)

Embryo, Nonmammalian; Germ Layers; Neural Plate; Notochord; Organizers, Embryonic

Research at a Glance

Yale Co-Authors

Frequent collaborators of Mustafa Khokha's published research.

Publications

Featured Publications

2024

Clinical Trials

Current Trials

Academic Achievements & Community Involvement

  • honor

    Mallinckrodt Scholar

  • honor

    Mae Gailani Junior Faculty Teaching Award

  • honor

    Harvey Colten Award

  • honor

    Pediatric Scientist Development Program (PSDP) Fellow

  • honor

    Kingsley Fellowship in Medical Research

Clinical Care

Overview

When he began his career as a pediatrician, Mustafa Khokha, MD, remembers treating many newborns and infants suffering from infections. He finds it notable that developments in the medical field have evolved to the point where such infections have now become quite rare. For example, where some of his tiny patients used to suffer from meningococcemia, a blood infection caused by bacteria, vaccines have largely stopped these bacterial illnesses. Pneumonia and septic shock cases are also on the decline, he says. “What’s striking to me now is the different kinds of cases I deal with today,” notes Dr. Khokha.

Now, as a physician-researcher specializing in developmental biology, Dr. Khokha is interested in birth defects and identifying the genes that may cause them. “I get great satisfaction from telling parents and their children about the research we’ve done with genetic sequencing to understand why their child is sick. This is something we could not have done even a few years ago.” In addition to running a laboratory, Dr. Khokha is director of the Pediatric Genomics Discovery Program. This program enlists a team of experts to study young patients with unknown or undiagnosed diseases, with the goal of identifying the cause of each of these mysterious conditions.

At Yale School of Medicine, Dr. Khokha is professor of critical care pediatrics and of genetics and Director of the Pediatric Genomics Discovery Program.

Clinical Specialties

Pediatric Critical Care Medicine; Genetics; Pediatrics

Fact Sheets

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Get In Touch

Contacts

Academic Office Number
Appointment Number
Lab Number
Office Fax Number
Clinic Fax Number
Mailing Address

Pediatric Critical Care Medicine

PO Box 208064

New Haven, CT 06520-8064

United States

Administrative Support

Locations

  • Khokha Lab

    Lab

    Laboratory for Surgery, Obsterics & Gynecology

    375 Congress Avenue, Ste LSOG 402

    New Haven, CT 06519

    Appointments

    203.785.2333
  • Office - Mustafa Khokha

    Academic Office

    Laboratory for Surgery, Obsterics & Gynecology

    375 Congress Avenue, Ste LSOG 405C

    New Haven, CT 06519

    Appointments

    203.785.4650
  • Patient Care Locations

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