Yong-Hui Jiang, MD, PhD, chief of Medical Genetics, is trained in pediatrics and board certified in clinical genetics and medical biochemical genetics. He not only evaluates and treats rare and undiagnosed genetic diseases in infants through adults, but conducts basic and translational research.
“I joke with families that I am not just a specialist, but a super specialist because of my credentials and experience as a medical biochemical geneticist, one of two such physicians in the state, and we are both here at Yale,” says Dr. Jiang.
Adding lightness to what can be daunting medical appointments is one way Dr. Jiang connects with patients. Medical biochemical geneticists specialize in inherited metabolic conditions including inborn errors of metabolism. Inborn errors of metabolism (often diagnosed during standard screening at birth) are problems with how the body uses enzymes to digest proteins, fatty, and carbohydrates, which are important to the functions of all organs. Dr. Jiang also treats neurodevelopmental disorders such as Angelman’s, Prader-Willi, and Phelan-McDermid syndromes; and autism spectrum disorder.
“One of the challenges in my specialty is that the first job is to figure out what is going on. Sometimes, a family has been searching for a diagnosis for 10 years or more, and it is very rewarding to give them an answer,” Dr. Jiang says. “What motivates me, both in my clinical and research work, is developing treatments that will help them.”
Meanwhile, advances in clinical genetics continue at a rapid pace thanks to cutting-edge genetics testing technology at Yale and extensive experience on applying genome technology here, he notes. “The tools we have for reading your genome are now such better quality and lower cost,” he says. “There is a lot of hope of being able to evaluate and treat conditions to degrees that were not possible five years ago.”
Yale New Haven Children’s Hospital