Zak Kohane

Isaac Kohane, MD, PhD

Chair of the Department of Biomedical Informatics, Harvard Medical School
Marion V. Nelson Professor of Biomedical Informatics, Harvard Medical School
Professor of Pediatrics, Boston Children's Hospital

10 Shattuck Street, Boston, MA 02115

Isaac (Zak) Kohane, MD, PhD is the inaugural Chair of the Department of Biomedical Informatics and the Marion V. Nelson Professor of Biomedical Informatics at Harvard Medical School. He served as co-author of the Institute of Medicine Report on Precision Medicine that has been the template for national efforts. He develops and applies computational techniques to address disease at multiple scales: from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism.

Over the last 30 years, Kohane’s research agenda has been driven by the vision of what biomedical researchers could do to find new cures, provide new diagnoses and deliver the best care available if data could be converted more rapidly to knowledge and knowledge to practice. In so doing, he has designed and led multiple internationally adopted efforts to “instrument” the healthcare enterprise for discovery and to enable innovative decision-making tools to be applied to the point of care. At the same time, the new insights afforded by ’omic-scale molecular analyses have inspired him and his collaborators to work on re-characterizing and reclassifying diseases such as autism, rheumatoid arthritis and cancers. In many of these studies, the developmental trajectories of thousands of genes have been a powerful tool in unraveling complex diseases.

In 1987, Kohane earned his MD/PhD from Boston University and then completed his post-doctoral work at Boston Children’s Hospital, where he has since worked as a pediatric endocrinologist. He joined the faculty at Harvard Medical School in 1992, serving as Director of Countway Library from 2005 to 2015 and as Co-Director of the Center for Biomedical Informatics during the same period, before it became the Department of Biomedical Informatics in July 2015. He is a member of the Institute of Medicine and the American Society for Clinical Investigation. Kohane has published several hundred papers in the medical literature and authored the widely-used books Microarrays for an Integrative Genomics (2003) and The AI Revolution in Medicine: GPT-4 and Beyond (2023). He is also Editor-in-Chief of NEJM AI.

Kohane is always on the lookout for like-minded “quants” who share the same goals to bring a better future for medicine and biomedical science to the present.

Current Postdoctoral Fellowship Opportunities
DBMI Research Areas
DBMI Courses
Systemic nature of spinal muscular atrophy revealed by studying insurance claims.
Authors: Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL.
PLoS One
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Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
Authors: Barbu MC, Zeng Y, Shen X, Cox SR, Clarke TK, Gibson J, Adams MJ, Johnstone M, Haley CS, Lawrie SM, Deary IJ.
Biol Psychiatry Cogn Neurosci Neuroimaging
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Learning Contextual Hierarchical Structure of Medical Concepts with Poincairé Embeddings to Clarify Phenotypes.
Authors: Beaulieu-Jones BK, Kohane IS, Beam AL.
Pac Symp Biocomput
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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Authors: Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J.
Clin Imaging
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Authors: Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB.
Genet Med
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Authors: Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA.
N Engl J Med
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Publisher Correction: Computational repositioning and preclinical validation of mifepristone for human vestibular schwannoma.
Authors: Sagers JE, Brown AS, Vasilijic S, Lewis RM, Sahin MI, Landegger LD, Perlis RH, Kohane IS, Welling DB, Patel CJ, Stankovic KM.
Sci Rep
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Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex.
Authors: Yu KH, Miron O, Palmer N, Lemos DR, Fox K, Kou SC, Sahin M, Kohane IS.
Neurology
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Framing the challenges of artificial intelligence in medicine.
Authors: Yu KH, Kohane IS.
BMJ Qual Saf
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Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Authors: Kothari C, Wack M, Hassen-Khodja C, Finan S, Savova G, O'Boyle M, Bliss G, Cornell A, Horn EJ, Davis R, Jacobs J, Kohane I, Avillach P.
Am J Med Genet B Neuropsychiatr Genet
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