Boston Children’s Hospital is home to one of the few programs equipped to care for extremely severe disorders such as patients with very early onset psychosis (VEOP, defined as psychosis by age 13). The study of rare Mendelian forms of more common conditions is an effective way to discover potentially actionable gene candidates. A thoughtful consenting process allows for relevant genetic findings to be clinically confirmed and incorporated into the patient’s care in a timely fashion. We are also validating candidates by enrolling additional patients and families, and creating neuronal cell cultures, organoids, and animal models. Using these methods, we have begun to identify common affected pathways and neuronal phenotypes we aim to translate into novel therapeutics.
Topics covered will include a) the importance of phenotyping, transparency, and patient engagement, 2) the delicate balance of data sharing, discovery, and translation to the clinic 3) Case studies of big data projects and 4) How collaborations with Industry are crucial to making rare disease discoveries.