Wendy Chung, MD, PhD

Our research is focused on human genetics and rare genetic conditions. We study the genetic basis of a variety of human diseases, including obesity, type 2 diabetes, congenital heart disease, cardiomyopathies, arrhythmias, Long QT syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, cleft lip/cleft palate, seizures, intellectual disabilities, autism, inherited metabolic conditions, rare disorders, and breast cancer susceptibility. We develop statistical methods to recognize the genetic basis for these complex conditions and improve genetic diagnostics. As we identify genes for disease, we try to understand the natural history of rare genetic diseases and understand the genetic mechanisms for these mutations and in some cases develop molecular treatments for those rare diseases. We also work on the implementation of genomic and precision medicine at population scale and assess the impact of our implementation efforts. 

Our efforts include studies to understand rare genetic forms of obesity and diabetes and include the RADIANT study for atypical diabetes. We are also involved in clinical trials for rare genetic forms of diabetes, including Prader Willi syndrome, Bardet-Biedl syndrome, 16p11.2, and PHIP associated Chung-Jansen syndrome.

Recent Publications

• Craddock, K.E., Okur, V., Wilson, A., Gerkes, E.H., Ramsey, K., Heeley, J.M., Juusola, J., Vitobello, A., Dupeyron, M.B., Faivre, L., Chung, W.K. Clinical and Genetic Characterization of Individuals with Predicted Deleterious PHIP Variants. Cold Spring Harb Mol Case Stud. 5(4). pii: a004200, 2019. PMID: 31167805. PMCID: PMC6672026.
• Clement, K., van den Akker, E., Argente, J., Bahm, A., Chung, W.K., Connors, H., De Waele, K., Farooqi, S., Gonneau-Lejeune, J., Gordon, G.,  Kohlsdorf, K., Poitou, C., Puder, L., Swain, J., Stewart, M., Yuan, G., Wabitsch, M., Kuhnen, P. Efficacy and Safety of Setmelanotide, an MC4R Agonist, in Severly Obese Indivduals with LEPR or POMC Deficiency Obesity. The Lancet. 2020 Dec 8. doi: 10.1016/S2213-8587(20) 30364-8. PMID: 33137293.
• Gautheron, J., Morisseau, C., Chung, W.K., Zammouri, J., Auclair, M., Baujat, G., Capel, E., Moulin, C., Wang, Y., Yang, J., Hammock, B.D., Cerame, B., Phan, F., Feve, B., Vigouroux, C., Andreelli, F., Jeru, I. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Elife. 2021 Aug 3;10:e68445. Doi:10.7554/elife.68445. PMID: 34342583.
• Chung, W.K., Roberts, T.P.L., Sherr, E.H., Snyder, L.G., Spiro, J.E. 16p11.2 Deletion Syndrome. Curr Op Genet Dev. 2021 Mar 2. doi:10.1016/j.gde.2021.01.011. PMID: 33667823.