Joseph J. Shen

Joseph J. Shen, M.D., Ph.D., is an Associate Professor in the Clinical Genetics Department at the University of California, Davis. He is affiliated with the UC Davis MIND Institute and UC Davis Children's Hospital, part of the School of Medicine. His clinical expertise includes neurodevelopmental disorders, congenital anomalies, and genetic conditions, with a focus on underserved populations. Dr. Shen’s research explores the molecular basis of genetic diseases and utilizes experimental models to study neurodevelopmental and seizure disorders.

Education:

• B.S., UC Berkeley, 1991
• M.D. and Ph.D. in Human Genetics, Case Western Reserve University, 1999
• Pediatrics Residency and Fellowship in Human Genetics, Baylor College of Medicine (1999–2005)

Research Interests: Molecular mechanisms of genetic diseases, genetics care disparities, and clinical applications of genomic medicine. Dr. Shen emphasizes translational research, linking genetic findings to clinical outcomes and treatment responses.

Publications: His work spans neurogenetic disorders (e.g., CNKSR2-related epilepsy, AP2M1 variants in epilepsy), underserved patient care challenges, and rare genetic syndromes (e.g., Temple-Baraitser syndrome). Recent studies highlight the role of clinical response in variant pathogenicity assessment and lysosomal acid lipase deficiency treatment.

Advising & Grants: While no formal advisees are listed, Dr. Shen collaborates extensively across disciplines, leveraging grants to advance genomic medicine and precision healthcare strategies.

Labs & Teams: Active in the UC Davis MIND Institute’s interdisciplinary teams, focusing on neurodevelopmental disorders and precision medicine initiatives.