Wendy Chung
Wendy K. Chung is an American clinical and molecular geneticist and physician. She currently directs the clinical genetics program at NewYork–Presbyterian Hospital / Columbia University Medical Center in New York City and serves as the Kennedy Family Professor of Pediatrics. She is the author of 500 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally, and was the plaintiff in the supreme court case which prevents patenting of genes. Her research "relates  to the molecular genetics of obesity and diabetes in rodents and humans, the genetic basis of congenital heart disease, cardiomyopathies, arrhythmias, long QT Syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, cleft lip/cleft palate, seizures, mental retardation, inherited metabolic conditions and breast and pancreatic cancer susceptibility." Early life and education. Chung was born in Nebraska and raised in southern Florida. Her parents were involved in science and medicine: her father was an organic chemistry professor and her mother worked in a medical laboratory. She was the first Miami-Dade County public high school student to win the Westinghouse Science Talent  Search, the predecessor to the Regeneron Science Talent Search. In high school, Chung was valedictorian and a National Merit Scholar. Chung earned a bachelor's degree in biochemistry and economics at Cornell University, graduating in 1990. She earned a Ph.D. in genetics from Rockefeller University in 1996 and a M.D. from Cornell University Medical College in 1998. She was a graduate student of Dr. Rudy Leibel at Rockefeller, who described her as a "triple threat" due to her capability as an "equally gifted scientist, clinician, and teacher." Chung also completed an internship, residency, and fellowship at the New York-Presbyterian  Hospital, Columbia University Medical Center. Both her internship and residency were focused in pediatrics, while her two fellowships were focused in Molecular Genetics and Clinical Genetics. Career. Chung directs the Pediatric Heart Network Genetic Core, the Pediatric Neuromuscular Network Molecular Core, the New York Obesity Center Molecular Genetics Core and the Diabetes and Endocrine Research Center Molecular Genetics Core, among her positions. She holds board certifications in Clinical Genetics and Genomics (MD). Chung's areas of expertise include neurodevelopment disorders, autism, clinical genetics, developmental disorder, precision medicine, birth defects, breast cancer, cancer genetics, cardiomyopathy, cleft palate with cleft lip, congenital  diaphragmatic hernia, congenital heart disease, diabetes, genetic counseling, inborn metabolism disorder, inherited arrhythmias, neurogenetics, obesity, pancreatic cancer, pediatric seizures, pulmonary hypertension, rare cancer syndromes, arrhythmia, seizures, and spinal muscular atrophy. Chung was named one of "New York Magazine"'s "best doctors" and one of America's "top doctors" by Castle Connolly Medical Ltd. in a survey conducted when more than 250,000 "leading doctors" were asked to "name America's best physicians in various specialties." Supreme Court Case Involvement. Chung was an original plaintiff in the Supreme Court case which overturned that ability to patent genes, Association for Molecular Pathology v.  Myriad Genetics, Inc. Chung became a plaintiff with the ACLU after approaching both the NIH and Congress as she believed that the patenting of genes restricted access and quality of care the patients are eligible to receive. The court sided with the Association for Molecular Pathology unanimously, and determined that as genes are natural, they are not able to be patented. Chung believes that these decisions will allow patients to receive all the information resulting from genome sequencing, and allowing testing for specific diseases - such as the test for breast cancer - thus enabling patients to know more about their own  health. NewYork-Presbyterian / Columbia University Irving Medical Center. Chung is a Kennedy Family Professor of Pediatrics at Columbia University Vagelos College of Physicians and Surgeons (P&S) and directs the clinical genetics program. She has also received the Presidential Award for Outstanding Teaching from Columbia in recognition of her teaching and mentoring of students. Her work with children is carried out at NewYork-Presbyterian's Morgan Stanley Children's Hospital (MSCH), located at Columbia University Irving Medical Center (CUIMC). Chung directs the fellowship program in Cytogenetics and Molecular Genetics at CUIMC, supervises medical education in human genetics at P&S, and is  the director of the Clinical Cancer Genetics program and the Discover program. Simons Foundation. Chung directs clinical research at the Simons Foundation Autism Research Initiative and leads both the Simons Foundation Powering Research through Knowledge (SPARK); which is seeking to create a group of 50,000 individuals with Autism who are to contribute data in the form of saliva, medical, and behavioral information, and the Simons Variation in Individuals Project (now known as Simons Searchlight) in which individuals with a variation in a specific segment of their genetic makeup that increases their risk of autism are identified and studied through various  tests and neuroimaging to identify new profiles which may be shared by these individuals. In these endeavors, Chung works to manage research programs, evaluate new treatments and medications, and develop novel outcome measures for evaluation of the new treatments. Furthermore, she seeks to identify gene associations with autism and the specific clinical features which may characterize particular gene associations. Alongside her research endeavors, Chung works with the families involved in the project to create community and help them to understand autism and its causes more completely. Research contributions. Throughout her career, Chung's research largely to the genetic basis of  human diseases, specifically learning the discovery of new genes and mutations associated with diseases, then implementing these revelations into clinical treatments. Throughout her career, Chung has discovered 25 new genes that cause human diseases. Obesity and Diabetes. Chung worked primarily in research related to the influence of genetic variation in susceptibility to obesity and diabetes, using rodent genetic models as a foundation from which to expand research to humans. In this research, Chung was able to clone a rodent gene designed to prevent obesity and regulate body weight. Her later work expands to human obesity and diabetes susceptibility and prevention . Inborn Errors of Metabolism. Working with less common disorders, Chung has researched mutations and disease associations with Wolfram syndrome, Wolman disease, Leigh syndrome, glycogen storage disease type 111, and juvenile idiopathic arthritis. Birth Defects. Chung's research on birth defects focuses on determining the genetic basis of birth defects, focusing predominately on congenital diaphragmatic hernia and congenital heart disease. Her studies on congenital diaphragmatic hernia have been published in the journals "Nature" and "Science", and have showed that mutations are only rare causes. Cardiac Disease. Chung has concentrated research efforts for cardiac disease on pulmonary arterial hypertension, inherited arrhythmias, and  cardiomyopathies. Chung maintains the North American Hereditary Pulmonary Hypertension Registry, an has found four genes which may cause pulmonary hypertension. Chung's current research is focused on identifying genes leading to pulmonary hypertension in children. Chung's work researching cardiomyopathies describes metabolic causes, identify genetic modifiers of disease progression in children and infants with the hypertrophic cardiomyopathy and novel genes for infantile cardiomyopathy. Spinal Muscular Atrophy. One of Chung's contributions within the field of genetics involves her role in the development of screenings and treatment for spinal muscular atrophy (SMA),especially in newborns. Chung worked as a part of a  team to develop a new screening and intervention process for infants with spinal muscular atrophy, with a pilot study conducted with a population of infants in New York identifying and successfully treating one infant with SMA. Chung has also conducted a natural history study to understand how spinal muscular atrophy progresses to provide a foundation for clinical trials. Cancer. Chung focuses on a variety of cancer types, including breast cancers and pancreatic cancers, along with several rare forms of cancer and the clinical implementation of testing for cancers. In her research focused on breast cancer, Chung works at the New  York location of the Breast Cancer Family Registry, studying predominately heritable breast cancers. Genetic research in this area has been largely centered on variations of the BRCA1/BRCA2 mutations, as well as how genetics affect decision, health behaviors, and outcomes for patients. Chung's research within the Columbia pancreas cancer genetic program discovered 27% of patients from the program had identifiable genetic causes for their pancreatic cancer. Autism and Neurodevelopmental Disorders. Chung's research on neurodevelopment disorders at Columbia has resulted in the identification of novel genes associated with neurodevelopment disabilities and autism, including KAT6A, PPP2R5D, PRUNE, EMC1, AHDC1, POGZ , PURA, ARID2, DDX3X, SETD2, KIF1A, and SPATA5. In April 2014, Chung spoke at TED2014, delivering a talk called "Autism - What we know (and what we don't know yet)." Chung discussed different ways in which genetics and autism interact, with some individuals with autism resulting from a single genetic factor, and other individuals with multifactorial autism, caused by multiple factors and genes. Additionally, Chung touched on the ameliorable effects of early detection of autism, along with new testing practices such as eye tracking test for babies which detects whether they have difficulty maintaining eye contact. Chung also plays an instrumental  role in spearheading research regarding a rare neurodegenerative disorder called KIF1A-Associated Neurological Disorder (KAND). The Chung Lab at Columbia University houses the KAND Natural History Study and patient registry, which are key resources that aid in characterizing this rare and novel disease. On April 8, 2021, a paper was published by Lia Boyle, a prominent KIF1A and KAND researcher in the Chung Lab, which characterizes KAND from the data collected through the Natural History Study and details the development of a KAND severity score. Additionally, Chung was featured in part one of a Ken Burns documentary called "The Gene : An Intimate History," which focuses on the efforts of Luke Rosen and Sally Jackson, the founders of KIF1A.org, and researchers to find a treatment for KAND patients. Recognition and awards. 2021 American Association of Physicians 2020 National Academy of Medicine 2019 Rare Impact Award, National Organization of Rare Diseases Personal life. She has two sons and spends most of her free time with her family, engaging in hiking, swimming, biking, solving puzzles, and going on scavenger hunts.