Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families

作者: Pierre Meulien , Paul Lasko , Alex MacKenzie , Cindy Bell , Kym Boycott

DOI: 10.1007/978-3-642-38643-5_3

关键词: Exome sequencingRare diseaseDNA sequencingPersonalized medicineMonogenic diseaseComputational biologyBiologyBioinformaticsWhole genome sequencingGenomics

摘要: The latest methods for sequencing DNA have already revolutionized our approach to the management of very rare diseases. It is now possible—using whole genome and exome genomes—to diagnose phenotypically complex monogenic diseases in a significant number cases. A pan-Canadian initiative launched 2011 (FORGE) has developed highly sophisticated productive pipeline that identified causative genes 67 % cases studied. This obvious impacts are immediately actionable families their caring physicians as well implications implementing models personalized medicine. also promises impact profoundly on understanding pathway biology could accelerate speed at which we develop medicines both common

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