Mustafa K. Khokha, MD

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.