Kimberly LeBlanc, MS, CGC, is an Assistant Professor in the School of Health and Rehabilitation Sciences and teaches in the Master of Science in Genetic Counseling program at MGH Institute of Health Professions. She currently works at Harvard Medical School as the Director of the Undiagnosed Diseases Network (UDN) Coordinating Center. The UDN Coordinating Center oversees the activities of the UDN, a network of clinical sites and research cores that evaluate patients with difficult-to-diagnose conditions. As part of the UDN Coordinating Center, Kimberly supervises the direct interactions with participants, including helping participants navigate the UDN application, evaluation, sequencing, and research process. Kimberly also works with investigators from the sites and cores to develop network-wide clinical and participant engagement protocols.
- BA, Human Development, Boston College, Chestnut Hill, MA
- MS, Human Genetics and Genetic Counseling, Stanford University, Palo Alto, CA
Splinter, K., Adams, D.R., Bacino, C.A., Bellen, H.J., Bernstein, J.A., Cheatle-Jarvela, A.M., Eng, C.M., Esteves, C., Gahl, W.A., Hamid, R., Jacob, H.J., Kikani, B., Koeller, D.M., Kohane, I.S., Lee, B.H., Loscalzo, J., Luo, X., McCray, A.T., Metz, T.O., Mulvihill, J.J., Nelson, S.F., Palmer, C.G.S., Phillips III, J.A., Pick, L., Postlethwait, J.H., Reuter, C., Shashi, V., Sweetser, D.A., Tifft, C.J., Walley, N.M., Wangler, M.F., Westerfield, M., Wheeler, M.T., Wise, A.L., Worthey, E.A., Yamamoto, S., Ashley, E.A. for the Undiagnosed Diseases Network. (2018) Effect of genetic diagnosis on patients with previously undiagnosed disease. New England Journal of Medicine. 379(22): 2131-2139. https://pubmed.ncbi.nlm.nih.gov/30304647/
Studwell, C.M., Kelley, E.G., Undiagnosed Diseases Network, Sinsheimer, J.S., Palmer, C.G.S., LeBlanc, K. (2020) Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1329. https://pubmed.ncbi.nlm.nih.gov/33108040/
LeBlanc, K., Kelley, E. G., Nagy, A., Bater, J., Berro, T., McGuinness, M. A., Studwell, C., Undiagnosed Diseases Network, & Might, M. (2021). Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. Orphanet Journal of Rare Diseases, 16(1), 210. https://doi.org/10.1186/s13023-021-01825-1
McCray, A. T., LeBlanc, K., & Undiagnosed Diseases Network (2021). Patients as Partners in Rare Disease Diagnosis and Research. The Yale journal of biology and medicine, 94(4), 687–692.