Researcher’s Profile

Top Doctor: 

Wendy K. Chung, MD, PhD


Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, and esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. She leads the Precision Medicine Resource in the Irving Institute at Columbia University. She has authored over 300 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and the New York Academy Medal for Distinguished Contributions in Biomedical Science. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She led the pilot newborn screening study of spinal muscular atrophy in NY that helped lead to nationwide adoption of this test in newborns. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.

Research Statement: 

Dr. Wendy Chung is a human geneticist whose current research activities include efforts to identify genes and their relevant allelic variants related to the development of congenital diaphragmatic hernia, congenital cardiac malformations including heterotaxy, hypoplastic left heart syndrome, cardiac septal defects, cardiomyopathies, and congenital and acquired long QT syndromes. 

In genetic studies of arrhythmias, the patient's personal history of inciting triggers, T wave morphology on ECG, and the family history are used to choose candidate genes for linkage analysis when possible and mutation identification in one of the genes/loci identified to date in long QT syndrome. 


In genetic studies of hypertrophic cardiomyopathy, the patient's history of age of onset, other associated medical problems, and family history are used to choose candidate genes for mutation identification. In studies of congenital heart disease and congenital diaphragmatic hernias, the probands are studied by comparative genomic hybridization to detect genomic alterations such as insertions or deletions on a genome wide basis. Then candidate genes are selected based upon their roles in embryonic diaphragmatic and cardiac development and screened for mutations by high throughput sequencing. Genotype-phenotype correlations are then made by comparing clinical features and outcome based on genetic etiology of a disease. Another area of research includes the identification of genes related to obesity and type 2 diabetes in mice and humans. 


Dr. Chung and associates have mapped and cloned naturally occurring spontaneous mutations in the mouse causing both monogenic forms of obesity (tubby and diabetes) as well as a suppressor of obesity called mahoganoid. We have also identified 25 quantitative trait loci (QTLs) that interact with monogenic forms of obesity to produce varying degrees of diabetes susceptibility. We have made congenic lines for most of these QTLs and have identified a QTL for diabetes call Lisch-like. 


In parallel with these rodent studies, Dr. Chung is a participant in large ongoing human genetic studies to identify the genetic susceptibility to obesity and diabetes in humans. In collaboration with investigators around the world, we have access to over 100,000 human subjects phenotyped for adiposity and have developed high throughput methods for sequencing large genomic regions for regulatory variants and have identified novel contiguous gene deletions associated with syndromic forms of obesity. 


We are also studying the molecular mechanism by which the genes FTO/FTM recently identified through large genome wide association studies cause increased adiposity. We have identified novel mutations in the Wolframin gene causing a rare autosomal recessive form of diabetes mellitus and characterized the uniparental disomy of chromosome 6 in neonates with transient neonatal diabetes. In addition, families with maturity onset diabetes of the young (MODY) and have identified a rare neonatal complication of hypoglycemia associated with MODY. 


Dr. Chung also provide the molecular genetics core services for the Obesity Research Center, Diabetes and Endocrine Research Center, Pediatric Neuromuscular Clinical Research Network studying spinal muscular atrophy, and the Pediatric Heart Network.