This webinar will focus on an examination of the mechanisms of genetic disease including the importance of molecular diagnosis. New therapeutic interventions are developed and specifically directed at an individual’s genetic diagnosis. These might include augmenting protein production or function, decreasing toxic metabolites, or repairing or correcting errors at the genomic level. Rapid translation of these therapies in the setting or rare disease means that trials are already ongoing and new drug approvals are rapidly changing the way patient with rare genetic disease are managed.