Isaac Kohane

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.