Speaking at Georgetown University’s Innovation Center for Biomedical Informatics (ICBI), Dr. Jimmy Lin, President of Rare Genomics Institute, expounded on how the current genomic revolution has made gradual but undeniable foray into making “raGeorgetown_University_wikicommons_1re diseases rare”. His talk on February 2, 2015, was entitled “The Cathedral and the Bazaar: Musings on Rare Diseases and the Genomic Revolution”. In the seminar, Dr. Lin also shared the origins of RGI, its vision and the model. He detailed the accomplishments, the ongoing programs as well as the future plans. To make a tangible difference for those families and patients with rare diseases, RGI is leveraging whole genome sequencing. It provides access to world-class genomic sequencing and interpretation services through a unique crowdfunding platform.
The impact of bioinformatics, more specifically biomedical informatics, on clinical diagnosis of a rare disease is now indisputable. Contributing to this space is ICBI. The ICBI program was formed in 2012 under the leadership of a group of data scientists from within the Georgetown University Medical Center, initially, as a hub for cutting-edge research in biomedical informatics. Their objective is to provide biomedical informatics necessary for the delivery of personalized medicine based on the patient’s DNA. The group provides consultation on next gen sequencing data, molecular profiling, BIG DATA analytics and data integration, molecular modeling and bioinformatics software development to name a few.
February 3, 2015