Hui Z. Zhang, MD, PhD

Hui Zhang, MD, PhD, is a geneticist who specializes in caring for children born with birth defects or developmental disabilities. She regularly diagnoses children and adults with developmental disabilities, autism spectrum disorders, craniofacial anomalies, inherited eye disorders, hearing loss, and various birth defects.  

While Dr. Zhang was completing her doctorate degree, she worked in research labs that looked at genetic causes of human diseases. “It piqued my interest in clinical genetics,” Dr. Zhang says.

At Yale Medicine, Dr. Zhang focuses on identifying the genetic causes for patients' conditions, and helping her patients and their families to understand their conditions. She believes that knowledge of the condition can help significantly, even if a cure doesn’t yet exist.

As a geneticist, Dr. Zhang assists patients with navigating complex medical care that may require visits to different specialists to address various symptoms. “I try to provide comprehensive care for patients with complex medical problems,” Dr. Zhang says. “I help guide them to make sure they get the appropriate care and find the necessary support.”

At Yale School of Medicine, Dr. Zhang is an associate professor of genetics and of pediatrics. She is also co-director of the DNA Diagnostic Lab, which forms diagnostic testing to identify genetic causes of various medical conditions.