Zak Kohane
Isaac Samuel Kohane, MD, PhD
Chair of the Department of Biomedical Informatics, Harvard Medical School
Marion V. Nelson Professor of Biomedical Informatics, Harvard Medical School
10 Shattuck Street, Boston, MA 02115

Over the last 30 years, the research agenda of Isaac Kohane  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, Kohane 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. Kohane currently leads three NIH-funded projects that cut across the entire agenda:

  1. A Center for Excellence in Genomic Science to study neuropsychiatric disease at multiple levels (from molecular characterization of induced neurons obtained from fibroblasts of patients to automated classification of the textual component of their electronic medical record).
     
  2. The Coordinating Center for the Undiagnosed Diseases Network. Where patients with rare and unknown diseases are provided with combined clinical and molecular diagnoses in a nationally-scaled infrastructure so that they can see the right expert with all their relevant data at hand.
     
  3. Center for Excellence in Big Data to Knowledge to both create a nationally scaleable research data-sharing infrastructure and demonstrate its use for neurodevelopmental diseases.

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


DBMI Research Areas
DBMI Courses
Current Postdoctoral Fellowship Opportunities
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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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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f(1Feature Extraction for Phenotyping from Semantic and Knowledge Resources.
Authors: Ning W, Chan S, Beam A, Yu M, Geva A, Liao K, Mullen M, Mandl KD, Kohane I, Cai T, Yu S.
J Biomed Inform
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Probabilistic record linkage of de-identified research datasets with discrepancies using diagnosis codes.
Authors: Hejblum BP, Weber GM, Liao KP, Palmer NP, Churchill S, Shadick NA, Szolovits P, Murphy SN, Kohane IS, Cai T.
Sci Data
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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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PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.
Authors: Sinnott JA, Cai F, Yu S, Hejblum BP, Hong C, Kohane IS, Liao KP.
J Am Med Inform Assoc
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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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