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
Big Data and Machine Learning in Health Care.
Authors: Beam AL, Kohane IS.
JAMA
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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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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Authors: Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL.
Genet Med
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Authors: Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.
Am J Hum Genet
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Authors: Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.
Am J Hum Genet
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Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V.
Authors: Miron O, Beam AL, Kohane IS.
Autism Res
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Postsurgical prescriptions for opioid naive patients and association with overdose and misuse: retrospective cohort study.
Authors: Brat GA, Agniel D, Beam A, Yorkgitis B, Bicket M, Homer M, Fox KP, Knecht DB, McMahill-Walraven CN, Palmer N, Kohane I.
BMJ
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Enabling phenotypic big data with PheNorm.
Authors: Yu S, Ma Y, Gronsbell J, Cai T, Ananthakrishnan AN, Gainer VS, Churchill SE, Szolovits P, Murphy SN, Kohane IS, Liao KP, Cai T.
J Am Med Inform Assoc
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
Authors: de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, Curtis C, Newhouse SJ, Patel H, Hall LS, O Reilly PF, Belangero SI, Bressan RA, Breen G.
Commun Biol
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
Authors: de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, Curtis C, Newhouse SJ, Patel H, Hall LS, O Reilly PF, Belangero SI, Bressan RA, Breen G.
Commun Biol
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