Mustafa Khokha, MD
Professor of Pediatrics (Critical Care Medicine)Cards
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
Pediatric Critical Care Medicine
ProfessorPrimaryGenetics
ProfessorSecondaryObstetrics, Gynecology & Reproductive Sciences
ProfessorSecondary
Other Departments & Organizations
- Genetics
- Khokha Lab
- Molecular Cell Biology, Genetics and Development
- Molecular Medicine, Pharmacology, and Physiology
- Obstetrics, Gynecology & Reproductive Sciences
- Pediatric Critical Care Medicine
- Pediatric Critical Care Transport Program
- Pediatric Genomics Discovery Program (PGDP)
- Pediatrics
- Program in Translational Biomedicine (PTB)
- Yale Center for Genomic Health
- Yale Combined Program in the Biological and Biomedical Sciences (BBS)
- Yale Medicine
- Yale Ventures
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
Academic Achievements & Community Involvement
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
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News & Links
Media
- Multiciliated cell as a model for ciliopathies from Xenopus (frog) embryonic epidermis.
- Secondary axis induced by the overexpression of Wnt signal in the Xenopus embryo
News
- September 10, 2024
NIH Recognizes Yale’s Expertise in the Genetics of Rare Diseases
- September 15, 2023
Mitochondrial Function: Beyond Serving as the ‘Powerhouse of the Cell’
- May 22, 2023
Racing to solve rare diseases
- April 05, 2022
100 Years of Pediatrics at Yale