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National Institutes of Health

Press Release
December 22, 2003

Mental Illness Genetics Among Science’s Top “Breakthroughs“ for 2003

Research on the genetics of mental illness, most of it NIMH-funded and much of it in the Institute’s own laboratories, was named the #2 scientific "breakthrough of the year" by Science magazine in its December l9, 2003, issue. The prestigious journal selected the mental health studies first of nine runners-up—second only to newfound insights into the nature of the cosmos. It cited progress not only in identifying genes that increase one’s risk of developing schizophrenia, depression and bipolar disorder, but also in “unraveling” how the genes work in the brain to influence vulnerability.

Among studies specifically mentioned is the finding by NIMH grantees Drs. Avshalom Caspi and Terrie Moffitt, University of Wisconsin, that a variant of the serotonin transporter gene doubles the risk of depression following life stresses in early adulthood. Also, NIMH’s Drs. Ahmad Hariri’s and Daniel Weinberger’s finding that the same gene variant biases the amygdala’s response toward increased anxiety when viewing frightening faces.

Also cited are discoveries by NIMH’s Drs. Michael Egan, Venkata Mattay, Mayada Akil, and Weinberger about how a particular version of the COMT gene slightly increases risk of schizophrenia by impairing prefrontal function.

Work by Egan and colleagues is also credited for showing how the BDNF gene, which has been linked to bipolar disorder, affects memory in humans through effects on the hippocampus.

Articles listed as relevant by Science:

M. Neves-Pereira et al., "The Brain-Derived Neurotrophic Factor Gene Confers Susceptibility to Bipolar Disorder: Evidence from a Family-Based Association Study," Am. J. Hum. Genet. 71, 651 (2002)

M. F. Egan et al., "The BDNF val66met Polymorphism Affects Activity-Dependent Secretion of BDNF and Human Memory and Hippocampal Function," Cell 112, 257 (2003)

D. Hall et al., "Sequence Variants of the Brain-Derived Neurotrophic Factor (BDNF) Gene Are Strongly Associated with Obsessive-Compulsive Disorder," Am. J. Hum. Genet. 73, 370 (2003)

M. Egan et al., "Effect of COMT Val108/158 Met Genotype on Frontal Lobe Function and Risk for Schizophrenia," Proc. Natl. Acad. Sci. U.S.A. 98, 6917 (2001)

M. Akil et al., "Catechol-O-Methyltransferase Genotype and Dopamine Regulation in the Human Brain," J. Neurosci. 23, 2008 (2003)

A. R. Hariri et al., "Serotonin Transporter Genetic Variation and the Response of the Human Amygdala," Science 297, 400 (2002)

A. Caspi et al., "Influence of Life Stress on Depression: Moderation by a Polymorphism in the 5-HTT Gene," Science 301, 386 (2003)

C. Holden, "Getting the Short End of the Allele," Science 301, 291 (2003)

G. Vogel, "Depression Drugs' Powers May Rest on New Neurons," Science 301, 757 (203)

J. L. Kennedy et al., "The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra?", Science 302, 822 (2003)

Web sites listed as relevant by Science:

Science Magazine, see issue for 19 December 2003 (Vol 302, Number 5653)

National Institute of Mental Health
Information for the public, medical practitioners, and researchers. Resource pages on schizophrenia, depression, and bipolar disorder are provided.

The National Library of Medicine provides links to Internet resources on mental health, including bipolar disorder, schizophrenia, and depression.


The National Institute of Mental Health (NIMH) mission is to reduce the burden of mental and behavioral disorders through research on mind, brain, and behavior. More information is available at the NIMH website.

The National Institutes of Health (NIH) — The Nation’s Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit the NIH website.