Jonathan Sebat is the director of the Beyster Center for Genomics of Psychiatric Disease and Associate Professor of Psychiatry and Cellular and Molecular Medicine. His research has been central to the current understanding that copy number variation (CNV) is widespread in the human genome and that rare CNVs and de novo mutations contribute to risk for common disease. Dr. Sebat’s early research using high resolution oligonucleotide microarray technology led to the first report describing the abundance of copy number variants in the human genome. His laboratory carried out the first high-resolution microarray studies of CNV in autism and schizophrenia, and based on this work established that rare variants and de novo mutations are major contributors to risk. Numerous loci of large effect have now been identified. These discoveries have led to a new paradigm for the genetic architecture of mental illness. Genetic risk for a common disease can in many cases be explained by rare highly-penetrant mutations. Thus, a diagnostic category such as “Autism” or “Schizophrenia” can be regarded as a composite of many different genetic disorders.
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