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Dr. Saquib Lakhani

Associate Professor Term; Clinical Director, Pediatric Genomics Discovery Program, Yale School of Medicine


Doctor Saquib Lakhani, MD, clinical director of Yale Medicine’s Pediatric Genomics Discovery Program (PGDP), specializes in caring for newborns and infants with undiagnosed birth defects. As a pediatrician, Dr. Lakhani treats young patients in critical condition and those with chronic health problems. 

In his role at the PGDP, Dr. Lakhani works with genetic researchers to understand and interpret the results of patients’ genetic sequencing tests. “The intellectual aspect of my job is incredible,” he says. “I’m constantly exploring, learning, and facing new challenges.”


The improvements in genetic sequencing technology allow the team at PGDP to help families answer a haunting question: Why did this happen to my child?

Dr. Lakhani recalls helping a family whose first child was born with heterotaxy, a rare birth defect in which the heart, stomach, intestines, and other organs are located in abnormal places. While mutated genes are suspected to cause heterotaxy, the family did not know which gene might be responsible in their particular case.


After sequencing the genome of the parents and child, he discovered a possible culprit. “If the parents want to have another child, then we could, through in vitro fertilization, possibly choose eggs from the mother and sperm from the father without this mutation,” Dr. Lakhani says.

Dr. Lakhani is leading on the GeneDx / Yale School of Medicine research study on CRELD1. 

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