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
A one-page summary report of genome sequencing for the healthy adult.
Authors: Vassy JL, McLaughlin HM, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC.
Public Health Genomics
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TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.
Authors: Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, Pappas DA, Kremer JM, Barton A, Coenen MJ, Franke B, Kiemeney LA, Mariette X, Richard-Miceli C, Canhão H, Fonseca JE, de Vries N, Tak PP, Crusius JB, Nurmohamed MT, Kurreeman F, Mikuls TR, Okada Y, Stahl EA, Larson DE, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Kosoy R, Ransom M, Bhangale TR, Ortmann W, Cagan A, Gainer V, Karlson EW, Kohane I, Murphy SN, Martin J, Zhernakova A, Klareskog L, Padyukov L, Worthington J, Mardis ER, Seldin MF, Gregersen PK, Behrens T, Raychaudhuri S, Denny JC, Plenge RM.
PLoS One
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An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.
Authors: Kohane IS.
Biol Psychiatry
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Practical considerations in genomic decision support: The eMERGE experience.
Authors: Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J.
J Pathol Inform
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A conceptual model for translating omic data into clinical action.
Authors: Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Denny J, Freimuth RR, Hartzler A, Kannry J, Kohane IS, Kullo IJ, Lin S, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden D, Tromp G, Williams MS, Starren J.
J Pathol Inform
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Methods to Develop an Electronic Medical Record Phenotype Algorithm to Compare the Risk of Coronary Artery Disease across 3 Chronic Disease Cohorts.
Authors: Liao KP, Ananthakrishnan AN, Kumar V, Xia Z, Cagan A, Gainer VS, Goryachev S, Chen P, Savova GK, Agniel D, Churchill S, Lee J, Murphy SN, Plenge RM, Szolovits P, Kohane I, Shaw SY, Karlson EW, Cai T.
PLoS One
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A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
Authors: McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL.
BMC Med Genet
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Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS): architecture.
Authors: Mandl KD, Kohane IS, McFadden D, Weber GM, Natter M, Mandel J, Schneeweiss S, Weiler S, Klann JG, Bickel J, Adams WG, Ge Y, Zhou X, Perkins J, Marsolo K, Bernstam E, Showalter J, Quarshie A, Ofili E, Hripcsak G, Murphy SN.
J Am Med Inform Assoc
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Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative.
Authors: D'Amore JD, Mandel JC, Kreda DA, Swain A, Koromia GA, Sundareswaran S, Alschuler L, Dolin RH, Mandl KD, Kohane IS, Ramoni RB.
J Am Med Inform Assoc
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Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records.
Authors: Sinnott JA, Dai W, Liao KP, Shaw SY, Ananthakrishnan AN, Gainer VS, Karlson EW, Churchill S, Szolovits P, Murphy S, Kohane I, Plenge R, Cai T.
Hum Genet
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