Gene discovery for orphan diseases: this is why you do it

Abstract

New disruptive genetic technologies, most notably next generation sequencing, have matured to the point where they are close to implementation into routine clinical practice, and we can confidently predict that they will transform the way we practice medicine. For orphan genetic disorders, a new era of accelerated gene discovery is set to provide great insights into their underlying biology and pathophysiology. Not only will these discoveries permit more accurate genetic counselling and perhaps prognostication, but they will also facilitate the development and implementation of novel targeted therapies, which may include the repurposing of existing drugs for the treatment of new disorders.In..