Casie Genetti will introduce The Gene Discovery Core at The Manton Center for Orphan Disease Research, established to provide the infrastructure and interdisciplinary collaborations needed for gene discovery in patients with complex undiagnosed diseases. This presentation will review their process for gene discovery, including case examples featuring downstream functional analysis for candidate genes.
Jessica Douglas will discuss strategies for communicating novel gene diagnoses to patients and their families and how clinicians can best assist families in navigating a diagnosis of a previously undescribed condition.