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News — LOS ANGELES (Oct. 25, 2024) --  has appointed highly respected pediatric physician-scientists Mustafa Khokha, MD, and Saquib Lakhani, MD, to advance knowledge and application of genome sequencing with the goal of improving screening and treatment of genetic disorders and abnormalities.

Khokha and Lakhani, who specialize in rare pediatric genetic diseases and conditions, have published widely in the highest-impact journals and made significant contributions to pediatric development and genetics research.

Khokha will serve as director of the new Guerin Children’s Genetics Research Center, and Lakhani as director of the Guerin Children’s Early Detection Program. Together, they will develop a pediatric genome sequencing program to help identify genetic disorders as early as possible, prompting earlier and more effective screenings and treatments for pediatric diseases.

“The expertise of Dr. Khokha and Dr. Lakhani will help Guerin Children’s detect genetic disorders and inherited diseases earlier, expand our knowledge of these conditions, help parents make more informed healthcare decisions for their children and better tailor treatments,” said , executive vice dean of Children’s Health at Cedars-Sinai and executive director of Guerin Children’s. “We look forward to them enhancing innovation and medical care for our patients at Guerin Children’s.”

Khokha and Lakhani will collaborate with , associate director of Research at Guerin Children’s, to establish a birth cohort study that will collect data on genetic sequencing in children to better understand future disease probabilities. This effort will aim initially to introduce informed consent genetic testing.

Khokha and Lakhani join Guerin Children’s from the Yale School of Medicine, where they both were pediatric critical care physicians and led Yale’s Pediatric Genomics Discovery Program, which studies the genetic causes of unknown or undiagnosed diseases in children.

Prior to joining Cedars-Sinai, Khokha was professor of Pediatrics and Genetics at Yale and director of the Pediatric Genomics Discovery Program. His laboratory team studies the developmental biology of congenital malformations, which informs his clinical practice in pediatric intensive care. For more than two decades, Khokha has maintained continuous funding and multiple grants from the National Institutes of Health (NIH). He also has chaired the major NIH grant study section focused on developmental biology.

Khokha earned his bachelor’s and medical degrees from Northwestern University and completed his internship and residency at St. Louis Children’s Hospital. He completed his clinical fellowship in pediatric critical care at UCSF Medical Center and a postdoctoral fellowship in molecular and cell biology at the University of California, Berkeley.

“Being able to share with parents that we understand the cause of a genetic disorder or birth defect, and that we may have a specific treatment to help, is invaluable,” Khokha said. “Significant strides have been made in the science and technology of genomics. I look forward to building on this momentum at Guerin Children’s.”

Most recently, Lakhani was an associate professor of Pediatrics at Yale and clinical director of the Pediatric Genomics Discovery Program. His lab staff explores the genetics of birth defects, particularly neurodevelopmental disorders and seizures. He has held numerous leadership roles, including director of the pediatric critical care fellowship at Yale.

Lakhani earned his bachelor’s and medical degrees from the University of Virginia. He completed his residency in pediatrics at St. Louis Children’s Hospital, followed by fellowships in pediatric critical care and immunobiology at Yale and integrative medicine at the University of Arizona.

“I’m eager to bring my genomics work to Guerin Children’s and help make genetic testing more available to patients,” Lakhani said. “As we continue to learn more about the genetics of birth defects and rare diseases through research and early detection at Guerin Children’s, the potential to transform treatment and care is very exciting.”

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