Wendy Chung

Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School. She is the author of 700 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 among the plaintiffs in the Supreme Court case which banned gene patenting.

Her research "relates to rare genetic conditions including 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, esophageal atresia/tracheoesophageal fistula, seizures, Intellectual disability, autism, inherited metabolic conditions and breast susceptibility." Her parents were involved in science and medicine: her father was an organic chemistry professor and her mother worked in a medical laboratory.

Chung earned a bachelor's degree in biochemistry and economics at Cornell University, graduating in 1990.

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. She directs the GUARDIAN newborn screening program.

Simons Foundation

Chung directed clinical research at the Simons Foundation Autism Research Initiative. She leads both the Simons Foundation Powering Research through Knowledge (SPARK); which is seeking to create a large group of individuals with autism who contribute data in the form of genetic, medical, and behavioral information, and Simons Searchlight (previously known Simons Variation in Individuals Project) in which individuals with a variant in a specific segment of their genetic makeup increases their probability of autism are studied through various assessments 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 has largely focused on 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.

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 (leptin receptor) leading to obesity and regulation of body weight. ), atresia (through project CARE) and congenital heart disease. ALYREF and MYRF in causing CDH.

Her studies on congenital heart disease have been published in the journals Nature and Science, and have shown that mutations in many different genes are a cause of congenital anomalies and can also be associated with neurodevelopmental disorders. 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. 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. Chung has also started a treatment program using an ASO to treat KAND and has a patient in an N of 1 trial to determine efficacy of this strategy.

Papers

Recognition and awards 2021 American Association of Physicians

2020 National Academy of Medicine

2019 Rare Impact Award, National Organization of Rare Diseases 2018 New York Academy Medal for Distinguished Contributions in Biomedical Science

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.