Paul Avillach, MD, PhD
Dr. Avillach is Assistant Professor in Pediatrics & Biomedical Informatics, Harvard Medical School and Boston Children’s Hospital. He received his MD in Public Health from University of Bordeaux, France and PhD in Biomedical Informatics from University of Marseilles, France. His work focuses on translational bioinformatics, combining clinical and genomic data across different scales and resolutions to address essential biomedical questions. Research includes: Delineating autism subtypes by phenotype-wide scan across all genotypes measured by SNP array; Leading the bioinformatics and engineering team of a NIH Big Data to Knowledge Centers of Excellence PIC-SURE to build an i2b2/tranSMART knowledge management platform on Amazon Web Services; Setting up the i2b2/tranSMART platform for the NIH U54 Neuropsychiatric Genome-Scale and RDoC Individualized Domains (N-GRID); Integrating all available patient data for the orphan disease Phelan-McDermid Syndrome (1100 patients worldwide) in an i2b2/tranSMART patient-centered information commons; Deploying i2b2/tranSMART for the NIH/NCATS Global Rare Diseases Patient Registry Data Repository; Advising the US Veterans Administration on using i2b2/tranSMART for the Million Veteran Program.
Department of Biomedical Informatics | Harvard Medical School https://dbmi.hms.harvard.edu
Children’s Hospital Informatics Program | Boston Children’s Hospital http://chip.org