As a clinical and molecular geneticist, Wendy Chung, M.D., Ph.D. has been working with patients with rare genetic diseases and their families for the last 20 years. She is the Kennedy Family Professor of Pediatrics and Medicine at Columbia University Irving Medical Center and leader of the Chung Lab at Columbia University. Her focus has been on the study of rare genetic conditions associated with autism, intellectual disabilities, birth defects, pulmonary hypertension, cardiomyopathies, obesity, diabetes and breast cancer. Dr. Chung has identified over 40 genes that cause rare forms of these conditions.
Dr. Chung’s career has led her to working with families across many different conditions, giving her a unique perspective on the similarities that unite individuals across rare diseases. Her research team has been responsible for the discovery of therapeutics in rare diseases including Spinal Muscular Atrophy (SMA). She is leading programs that are designed to address the unmet needs of patients and to provide answers to scientific questions needed to develop better treatments in the future.
Throughout these research projects, Dr. Chung has met with many families and has developed a close connection with all of them. Whenever possible, Dr. Chung and her team unite families together to form communities online and in person at family meetings. “The love and support provided by our community is what gets us all through the bad days, and it is a joy to celebrate the good days together with our large extended family,” she says.
Dr. Chung looks towards the future of rare disease with excitement, knowing the community is entering a new age of genomic medicine where gene-based therapies will likely become a reality in the lifetime of many individuals with rare diseases. She looks forward to the day when many will be diagnosed shortly after birth and have treatments available to prevent them from developing the disease.
“I often feel like the Sherpa for many individuals and families with rare genetic diseases. I guide them along a journey they never thought they would take,” Dr. Chung notes. “We learn together as we travel and each of my patients has impacted me and has had a profound effect on my professional and personal lives.”
NORD is honored to present Dr. Wendy Chung with a 2019 Rare Impact Award.
Join us during NORD’s annual Rare Impact Awards ceremony, presented as part
of the 2019 Living Rare, Living Stronger Patient & Family Forum in Houston, TX.