Researcher’s Profile

Wendy Kay Chung, MD

Americas Top Doctor : 
Precision Medicine Resource Leader, Irving Institute
Medical Director, Columbia Genetic Counseling Graduate Program
Associate Director for Education, Herbert Irving Comprehensive Cancer Center
Chief, Division of Clinical Genetics, Department of Pediatrics

Scientifically, my main contributions have been in the discovery of new genes for human diseases and characterization of the mutation spectrum and molecular mechanism of disease, clinical characterization of the disorders associated with these gene mutations, and integration of these discoveries into clinical practice through the development and implementation of clinical genetic testing in medical care. The number of diseases I have studied and continue to study is much larger than most other geneticists and span rare disorders causing neurodevelopmental disorders (including autism and spinal muscular atrophy) and birth defects (congenital heart disease and congenital diaphragmatic hernia), cardiopulmonary conditions (pulmonary hypertension, cardiomyopathies, arrhythmias), cancers (breast and pancreatic cancer), rare inborn errors of metabolism, and complex diseases (obesity and diabetes). In all, I have identified over 25 new genes for human diseases.

I began my research focus on the inherited basis for the common metabolic conditions of obesity and type 2 diabetes. We study both common and rare genetic variants increasing susceptibility to obesity and diabetes, I have characterized over 250 patients for monogenic forms of diabetes using whole exome sequencing. I have also studied several rare inborn errors of metabolism and identified novel mutations and associations for Wolfram syndrome, Wolman disease, Leigh syndrome due to Ashkenazi Jewish founder mutations, and the novel associations of MELAS and glycogen storage disease type III with pulmonary hypertension. We study the genetic basis of birth defects including congenital diaphragmatic hernia and congenital heart disease. My cardiac studies include pulmonary arterial hypertension, inherited arrhythmias and cardiomyopathies and others. In collaboration with the Motor Neuron Center, our Spinal Muscular Dystrophy study led to a new paradigm for early diagnosis and intervention for the second most common hereditary cause of death in infants. Cancer research includes working on inherited cancers such as breast cancer, pancreatic cancer, as well as rare cancer syndromes. I have identified numerous novel genes for neurodevelopmental disabilities and autism and characterized the associated neurocognitive and clinical phenotypes. I have been involved in understanding how genetic information impacts patients and providers including their medical and reproductive decisions as well as the psychosocial impact of this information on patients and their families.

I have been a leader in the use of whole exome and whole genome sequencing as a discovery tool and for clinical care. I am a member of the Columbia Electronic Medical Records and Genomics (eMERGE) investigators funded by the NIH to study the integration of genomic medicine in the electronic medical record (EMR).

I play the critical leadership role in the Irving Institute in organizing and supporting these activities across Columbia, developing systems, policies, and governance to provide an efficient research infrastructure to accomplish the goals of Precision Medicine and to catalyze the careers for young investigators by providing the necessary training and ability to access data biospecimens and analytic techniques to launch research careers and programs.


Dr. Wendy Chung is an ABMG board certified clinical and molecular geneticist with 20 years of experience in human genetic research of monogenic and complex traits including diseases such as breast cancer, pancreatic cancer, congenital heart disease, pulmonary hypertension, inherited arrhythmias, cardiomyopathies, obesity, diabetes, congenital diaphragmatic hernias, and autism. She has extensive experience mapping and cloning genes in humans, and describing the clinical characteristics and natural history of novel genetic conditions and characterizing the spectrum of disease, and developing tailored care and treatments for rare genetic diseases. 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, the New York Academy Medal for Distinguished Contributions in Biomedical Science, and the Rare Impact Award from the National Organization of Rare Disorders. 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. 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.