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
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Authors: Forghani I, Lang SH, Rodier MJ, Bivona SA.
Am J Med Genet A
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Authors: Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM.
Genet Med
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Leveraging Large Language Models to Analyze Continuous Glucose Monitoring Data: A Case Study.
Authors: Healey E, Tan A, Flint K, Ruiz J, Kohane I.
medRxiv
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Authors: Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF.
Ann Clin Transl Neurol
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Causal machine learning for predicting treatment outcomes.
Authors: Feuerriegel S, Frauen D, Melnychuk V, Schweisthal J, Hess K, Curth A, Bauer S, Kilbertus N, Kohane IS, van der Schaar M.
Nat Med
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Mobilizing data during a crisis: Building rapid evidence pipelines using multi-institutional real world data.
Authors: Marwaha JS, Downing M, Halamka J, Abernethy A, Franklin JB, Anderson B, Kohane I, Wagholikar K, Brownstein J, Haendel M, Brat GA.
Healthc (Amst)
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Authors: Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA.
Am J Med Genet A
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Disease progression strikingly differs in research and real-world Parkinson's populations.
Authors: Beaulieu-Jones BK, Frau F, Bozzi S, Chandross KJ, Peterschmitt MJ, Cohen C, Coulovrat C, Kumar D, Kruger MJ, Lipnick SL, Fitzsimmons L, Kohane IS, Scherzer CR.
NPJ Parkinsons Dis
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De novo variants in DENND5B cause a neurodevelopmental disorder.
Authors: Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P.
Am J Hum Genet
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Authors: Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG.
Ann Clin Transl Neurol
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