Isaac KohaneView profile
Research Professor
Isaac Kohane is a Research Professor at Boston Children's Hospital , leading the Computational Health Informatics Program. His work bridges genomics, biomedical informatics, and machine learning to diagnose rare diseases and advance precision medicine. He co-leads large-scale collaborations like the Undiagnosed Diseases Network and 4CE Consortium , focusing on electronic health record analysis and neurodevelopmental disorders . Research Interests include: Genomic discovery of rare neurodevelopmental syndromes (e.g., variants in PPFIA3 , SDHA , ZBTB47 ) Machine learning for clinical risk prediction (e.g., suicide attempt modeling, type 2 diabetes subtyping) Ethical challenges in genomic research and AI implementation Health disparities in genetic variant interpretation International multi-institutional data harmonization Recent Publications emphasize genotype-phenotype mapping , AI-driven biomarker discovery , and repurposing real-world data for long COVID and autoimmune disease studies. His work highlights cross-modal data integration and multi-omics approaches in rare disease diagnostics.








