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Updated: May 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Recent Advances in Schizophrenia Genomics and Emerging Clinical Implications
Tim B Bigdeli1, Philip D Harvey2
1Department of Psychiatry and Behavioral Sciences, SUNY Downstate Health Sciences University, Brooklyn, NY, USA; Veterans Affairs (VA) New York Harbor Healthcare System, New York, USA.
None:
The conceptualization of schizophrenia has evolved from Emil Kraepelin's identification of "dementia praecox" as a distinct illness characterized by cognitive and functional deficits to the modern understanding of its complex nature. Recent research, including the "deficit syndrome," highlights enduring negative symptoms that correlate with poor functional outcomes. Genetic epidemiologic studies reveal a strong heritable basis (60%-80%) for schizophrenia, with its polygenic architecture overlapping with various mental health disorders. This complexity raises questions about targeted precision medicine. Recent advancements in biobanks and neurogenomics research are providing valuable insights that aim to improve patient outcomes through enhanced genomic understanding.
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