Translating ideas into action: Two new features initiated by Translational Research, as genomics enters the clinics

摘要

As of this year, there were nearly 3000 single gene disorders with a known molecular etiology. Their discovery has already had a striking impact on refining a variety of clinical diagnoses.1 What they have not had a substantial impact on, however, is development of new therapeutics. According to a recent review by Dr David Ginsburg, less than 1 % of such ge-nomic mappings have translated into clinical treatments, with most of those restricted to enzyme deficiencies.