معرفی
Stefan Somlo, MD, is the C. N. H. Long Professor of Medicine (Nephrology) and Professor of Genetics at Yale School of Medicine. He serves as Chief of the Section of Nephrology within the Department of Internal Medicine and is a key member of the Department of Genetics. His work is highly interdisciplinary, bridging nephrology and genetics through his leadership in the Polycystic Kidney Disease Program and the Program in Translational Biomedicine.
- Primary Affiliation: Department of Internal Medicine, Yale School of Medicine
- Secondary Affiliation: Department of Genetics, Yale School of Medicine
- Leadership Role: Chief, Section of Nephrology
- Research Programs: Polycystic Kidney Disease Program, Program in Translational Biomedicine (PTB), Somlo Laboratory
- Professional Recognition: C. N. H. Long Professor of Medicine
Dr. Somlo's research is dedicated to understanding the pathogenesis of polycystic kidney and liver diseases, including ADPKD, ARPKD, and PCLD. His work centers on the role of the primary cilium and basal body complex in disease, with a focus on gene discovery (e.g., PKD2, PKHD1), molecular signaling pathways (such as polycystin signaling and the unfolded protein response), and the development of genetically engineered mouse models to study disease mechanisms in vivo. His research aims to translate fundamental discoveries into novel therapies for these currently untreatable conditions.
His recent publications reveal a strong trend in identifying genetic modifiers of disease (e.g., Glis2, Glis3, RYR3), dissecting cellular stress pathways (IRE1α-Xbp1), and exploring innovative therapeutic strategies, including synthetic agents that induce oxidative stress and carbohydrate-based kidney targeting. This indicates a shift from gene discovery to mechanistic and translational research.
Dr. Somlo is actively involved in clinical research, serving as Principal Investigator for the 'Genetic Determinants of Aneurysms in Autosomal Dominant Polycystic Kidney Disease' trial, highlighting his commitment to improving patient outcomes through rigorous scientific inquiry.
He is supported by major funding agencies, including the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the Congressionally Directed Medical Research Programs (CDMRP), which underscores the significance and impact of his work.
Dr. Somlo leads the Somlo Laboratory, a dynamic research team focused on unraveling the complexities of cilia-related disorders. His frequent collaborators include Sorin Fedeles, Whitney Besse, Yiqiang Cai, Ke Dong, and Michael Rehman, reflecting a strong network of interdisciplinary scientists.
