Contributing Authors: Daniel Moreno De Luca, MD MSc & David A. Ross, MD PhD
Date Uploaded onto Website: March 1, 2016
Overview: Several psychiatric disorders such as autism and schizophrenia have a large genetic component contributing towards their etiology, which can be uncovered clinically and lead to actionable interventions that would alter management and treatment. Many of these genetic variants are individually rare, but collectively they can account for up to 40% of cases of autism. In this session, we will focus on learning about the different types of rare variants of large effect, how to detect them, the phenotype associated with specific rare variants, and the implications for diagnosis and treatment of having this genetic information available in the clinic.
Author Affiliations: Drs. Moreno De Luca and Ross are from the Yale School of Medicine. The National Neuroscience Curriculum Initiative is a collaborative effort with the American Association of Directors of Psychiatric Residency Training (AADPRT) and the American Psychiatric Association (APA) Council on Medical Education and Lifelong Learning and receives grant support from the NIH (R25 MH101076 02S1 and R25 MH086466 07S1) ©National Neuroscience Curriculum Initiative.