Mustafa Khokha, MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Physician Biography

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 associate professor of critical care pediatrics and of genetics and Director of the Pediatric Genomics Discovery Program.

Patient Care

Accepts new patients? Yes
Patient Type: Child
Referrals: From physicians only

Patient Care Organizations

Pediatrics: Critical Care Medicine

Genetics

Yale Medicine

Office of Cooperative Research

Clinical Trials

Conditions Study Title
Children's Health, Genetics - Pediatric YSM Pediatric Critical Illness Patient Registry and Biorepository

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Contact Info

Mustafa Khokha, MD
Patient Care Locations
Yale Pediatric Critical Care MedicineYale New Haven Children's Hospital
1 Park Street, Ste West Pavilion 2nd Floor

New Haven, CT 06504
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Yale Pediatric GeneticsYale New Haven Children's Hospital
1 Park Street, Ste West Pavilion, 2nd floor

New Haven, CT 06504
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Lab Location
Khokha LabFitkin Memorial Pavilion
789 Howard Avenue, Ste FMP 425

New Haven, CT 06519
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Office Location
Office - Mustafa KhokhaFitkin Memorial Pavilion
789 Howard Avenue, Ste FMP 410

New Haven, CT 06519
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Mailing Address
PO Box 208064
New Haven, CT 06520-8064

Curriculum Vitae

Khokha Lab