Over the last 30 years, Isaac 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, 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. A 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.