AWS Public Sector Blog
Author: Isaac Kohane, MD, PhD
Isaac 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 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. Kohane’s i2b2 project is currently deployed internationally to over 120 major academic health centers to drive discovery research in disease and pharmacovigilance (including providing evidence on drugs which ultimately contributed to “boxed warning” by the FDA). Dr. Kohane has published several hundred papers in the medical literature and authored a widely-used book on Microarrays for an Integrative Genomics. He is a member of the Institute of Medicine and the American Society for Clinical Investigation.
Solving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network
It takes a medical village to discover and diagnose rare diseases. The National Institutes of Health’s Undiagnosed Diseases Network (UDN) is made up of a coordinating center, 12 clinical sites, a model organism screening center, a metabolomics core, a sequencing core, and a biorepository. For many years prior to the UDN, the experts at these sites were limited by antiquated data-sharing procedures. The UDN leadership realized that if they wanted to scale up and serve as many patients as possible, they needed to transform how they process, store, and share medical data—which led the UDN to the AWS Cloud.