Abstract

 

From Phenotypes to Genes to Better Treatments for Psychosis, Can Children Show the Way?

A partnership at Boston Children’s Hospital between families of children with early onset psychosis, their treating clinicians, and scientists has initiated a cycle of discovery that proceeds from phenotyping of the children, to identifying rare high impact genetic variants, to the study of these variants in patient stem-cell derived neurons. Early results of this process demonstrating its feasibility will be presented along with the clinical description of the patients studied. These examples will be discussed in the light of concepts of genetic heterogeneity, pleiotropy, and variable expressivity, the common gene-common disease and rare gene-common disease hypotheses, and the promise of precision medicine in psychiatry.