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
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns.
Authors: Czamara D, Eraslan G, Page CM, Lahti J, Lahti-Pulkkinen M, Hämäläinen E, Kajantie E, Laivuori H, Villa PM, Reynolds RM, Nystad W, Håberg SE, London SJ, O'Donnell KJ, Garg E, Meaney MJ, Entringer S, Wadhwa PD, Buss C, Jones MJ, Lin DTS, MacIsaac JL, Kobor MS, Koen N, Zar HJ, Koenen KC, Dalvie S, Stein DJ, Kondofersky I, Müller NS, Theis FJ, Räikkönen K, Binder EB.
Nat Commun
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Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns.
Authors: Czamara D, Eraslan G, Page CM, Lahti J, Lahti-Pulkkinen M, Hämäläinen E, Kajantie E, Laivuori H, Villa PM, Reynolds RM, Nystad W, Håberg SE, London SJ, O'Donnell KJ, Garg E, Meaney MJ, Entringer S, Wadhwa PD, Buss C, Jones MJ, Lin DTS, MacIsaac JL, Kobor MS, Koen N, Zar HJ, Koenen KC, Dalvie S, Stein DJ, Kondofersky I, Müller NS, Theis FJ, Räikkönen K, Binder EB.
Nat Commun
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Authors: Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M.
Am J Hum Genet
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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Authors: Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA.
Mol Genet Genomic Med
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Authors: Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S.
Nat Med
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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Authors: Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA.
Mol Genet Genomic Med
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Authors: Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S.
Nat Med
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Batch correction evaluation framework using a-priori gene-gene associations: applied to the GTEx dataset.
Authors: Somekh J, Shen-Orr SS, Kohane IS.
BMC Bioinformatics
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Evaluation of the association of bariatric surgery with subsequent depression.
Authors: Yuan W, Yu KH, Palmer N, Stanford FC, Kohane I.
Int J Obes (Lond)
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Beyond multidrug resistance: Leveraging rare variants with machine and statistical learning models in Mycobacterium tuberculosis resistance prediction.
Authors: Chen ML, Doddi A, Royer J, Freschi L, Schito M, Ezewudo M, Kohane IS, Beam A, Farhat M.
EBioMedicine
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