Genome sequencing is revolutionizing the diagnosis of rare diseases, but 95% of these conditions still lack effective therapy. With up to 7,000 distinct genetic diseases to tackle, new and creative frameworks will be necessary to meet this need. Recent advances offer the prospect of platform-based therapeutic approaches to certain genetically targetable disorders — in the right circumstances, facilitating the design and deployment of hyper-personalized drugs for conditions affecting as few as even a single patient. The scientific, clinical, ethical, and regulatory implications of these capabilities will be discussed.
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In the press
The Boston Children's Hospital Computational Health Informatics Program (CHIP), founded in 1994, is a multidisciplinary applied research and education program. Our faculty advance the science of biomedical informatics for molecular characterization of the patient, gene discovery, medical decision making, diagnosis, therapeutic selection, care redesign, public health management, population health, and re-imagined clinical trials.