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The Genetics of Schizophrenia

The Genetics of Schizophrenia
Reported by
Karla Harby

Posted January 12, 2010


Schizophrenia is a neurological disease whose etiology is unknown. Some researchers believe that the human genome project may have a great impact on our understanding of such mental disorders because the genes scientists discover will provide crucial information about the mechanisms of these diseases. The results of genetic inquiries into complex diseases, particularly schizophrenia, were the subject of discussion at a June 7, 2006, session of the Academy's Genomic Medicine Discussion Group.

Topics discussed include the relationship between variations in the sequence of the genome and the risk of disease; discoveries to date in some complex genetic diseases, including stroke, heart attack, type 2 diabetes, and prostate cancer; and several molecular pathways that have been implicated in schizophrenia.

Use the tabs above to find a meeting report and multimedia from this event.

Web Sites

deCODE Genetics
Based in Reykjavik, Iceland, deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of drugs for common diseases. The company's population approach and resources have enabled its scientists to isolate key genes contributing to major public health challenges, from cardiovascular disease to cancer.

MedlinePlus: Schizophrenia
Information from the National Library of Medicine

Medscape Schizophrenia Resource Center
Links to Medscape's key clinical content.

National Institute of Mental Health
One of the National Institutes of Health, the mission of the NIMH is to reduce the burden of mental illness and behavioral disorders through research on mind, brain, and behavior. Included in the NIMH is the Clinical Brain Disorders Branch. Information for the public is provided at the Web site, including general information on schizophrenia, and on the NIMH Genetic Study of Schizophrenia.
A nonprofit Web community providing information to the general public about this disease. Read more about heredity and the genetics of schizophrenia.


American Psychiatric Association. 2000. Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR Fourth Edition. American Psychiatric Publishing, Arlington, Virginia.

Lieberman, J. A., T. S. Stroup & D. O. Perkins, Eds. 2006. The American Psychiatric Association Publishing Textbook of Schizophrenia. American Psychiatric Publishing, Arlington, Virginia.

McLean, R. 2005. Recovered, Not Cured: A Journey Through Schizophrenia. Allen & Unwin, Crow's Nest, NSW, Australia.

Journal Articles

Schizophrenia: Complex Genetic Disease

Li, T., H. Stefansson, E. Gudfinnsson, et al. 2004. Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype. Mol. Psychiatry 9: 698-704.

Stefansson, H., E. Sigurdsson, V. Steinthorsdottir, et al. 2002. Neuregulin 1 and susceptibility to schizophrenia. Am. J. Hum. Genet. 71: 877-892. FULL TEXT

Stefansson, H., V. Steinthorsdottir, T. E. Thorgeirsson, et al. 2004. Neuregulin 1 and schizophrenia. Ann. Med. 36: 62-71.

Schizophrenia Genes and Pathogenic Mechanisms

Egan, M. F., T. E. Goldberg, B. S. Kolachana, et al. 2001. Effect of COMT Val108/158Met genotype on frontal lobe function and risk for schizophrenia. Proc. Natl. Acad. Sci. USA 98: 6917-6922. FULL TEXT

Hariri, A., V. S. Mattay, A. Tessitore, et al. 2002. Serotonin transporter genetic variation and the response of the human amygdala. Science 297: 400-404.

Harrison, P. J. & D. R. Weinberger. 2005. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol. Psychiatry 10: 40-68.

Lipska, B. K., N. D. Halim, P. N. Segal & D. R. Weinberger. 2002. Effects of reversible inactivation of the neonatal ventral hippocampus on behavior in the adult rat. J. Neurosci. 22: 2835-2842. FULL TEXT

Tunbridge, E. M., P. J. Harrison & D. R. Weinberger. 2006. Catechol-o-methyltransferase, cognition, and psychosis: val158met and beyond. Biol. Psychiatry 60: 141-151.

Weinberger, D. R., M. F. Egan, A. Bertolino, et al. 2001. Prefrontal neurons and the genetics of schizophrenia. Biol. Psychiatry 50: 825-844.

Weinberger, D. R. & R. K. McClure. 2002. Neurotoxicity, neuroplasticity, and magnetic resonance imaging morphometry: what is happening in the schizophrenic brain? Arch. Gen. Psychiatry 59: 553-558.


Kári Stefánsson, MD, DrMed

deCODE Genetics
email | web site | publications

Kári Stefánsson has served as president, chief executive officer, and a director since he cofounded deCODE Genetics in August 1996. Stefánsson was appointed to serve as the chairman of the board of directors in December 1999.

From 1993 until April 1997, Stefánsson was a professor of neurology, neuropathology, and neuroscience at Harvard Medical School. In addition, from 1993 through December 1996, he was director of neuropathology at Beth Israel Hospital in Boston, Massachusetts. From 1983 to 1993, he held faculty positions in neurology, neuropathology and neurosciences at the University of Chicago.

Stefánsson received his MD and DrMed from the University of Iceland and is board certified in neurology and neuropathology in the United States.

Daniel R. Weinberger, MD

National Institute of Mental Health, National Institutes of Health
email | web site | publications

Daniel Weinberger is chief of the clinical brain disorders branch of the intramural research program at the National Institute of Mental Health. He received his BA from Johns Hopkins University and MD from the University of Pennsylvania, and did residencies in psychiatry at Harvard Medical School and in neurology at George Washington University. He is board certified in both psychiatry and neurology. He is past president of the Society of Biological Psychiatry and a member of the Institute of Medicine of the National Academy of Sciences.

Karla Harby

As a journalist living near New York City, Karla Harby has written for Scientific American, Discover and the Reuters new agency, as well as for nonprofit organizations, Web sites, and specialty magazines. She holds a BA in race & ethnic relations from Michigan State University and an MS in journalism from Columbia University. In her other career, she is a professional flutist.