Child Study Center Grand Rounds: The Power of Gene Discovery for Patients and Their Families - Informing Science and Familier

Rare undiagnosed disorders collectively are the #1 cause of infant mortality in the US. With next generation sequencing, we have the opportunity to define molecular lesions that may cause the disease and creates exciting diagnostic and research opportunities. Finally, returning these results to patients even if they are in the research realm can be exceptionally rewarding to patients, families, researchers, and clinicians.