Novel therapeutic approaches for rare genetic disease; after the deluge

The disruptive technology of NGS has resulted in a profusion of novel rare disease (RD) gene discovery underscoring the comparative dearth of effective treatments; over half of the estimated 7000 RDs are solved but there are only 400-500 therapies. At Care for Rare we are attempting to identify novel potentially generalizable approaches for RD therapy. Genetic disorders can be viewed as conditions of pathologic dosage with increased activity or even more frequently decreased dose underlying the pathogenesis; we are screening the modern pharmacopeia for agents which rectify this dosage as well as conducting high throughput screens for reversion of defined RD cellular phenotypes; illustrative cases involving spinal muscular atrophy, myotonic dystrophy and Loeys–Dietz syndrome will be presented.