Kosuke Izumi

Kosuke Izumi, M.D., Ph.D., is an Assistant Professor in the Department of Pediatrics at the University of Texas Southwestern (UT Southwestern). He holds appointments at Children’s Medical Center Research Institute at UT Southwestern. Dr. Izumi’s research focuses on understanding the molecular mechanisms underlying pediatric genetic disorders, particularly those involving chromosomal abnormalities and chromatin protein mutations. His work integrates genomic technologies to link clinical findings with genomic alterations, aiming to identify druggable pathways for therapeutic interventions.

Education: He earned his M.D. and Ph.D. at Keio University School of Medicine, Tokyo, Japan. His postdoctoral training included studies at the Children’s Hospital of Philadelphia (CHOP) and the University of Tokyo, where he investigated chromosomal disorders like Pallister-Killian syndrome and neurodevelopmental disorders. Prior to joining UT Southwestern in 2023, he was a faculty member at CHOP.

Research Interests: His lab explores disorders such as nuclear speckleopathies, chromatin disorders, and syndromic neurodevelopmental conditions. Key discoveries include identifying causative genes (e.g., AFF4, ARCN1, NKAP, CBX1) for Mendelian disorders. The lab employs patient-derived models, induced pluripotent stem cells, and mouse models to study disease mechanisms.

Publications: His recent work highlights studies on neurodevelopmental disorders, genetic variants in STAT6, CHD7-spectrum disorders, and molecular mechanisms of congenital anomalies. These publications emphasize genomic and phenotypic analyses to uncover disease mechanisms.

Labs/Teams: The Izumi Lab at UT Southwestern focuses on translational research to bridge genetic discoveries with clinical applications. Collaborations span genomic diagnostics, functional genomics, and developmental biology.