Who We Are
The National Institute of Mental Health (NIMH) has joined forces with university medical schools across the country including Harvard University, Mount Sinai School of Medicine, Stanford University, University of California Los Angeles, University of California San Diego, University of Colorado Health Sciences Center, University of Pennsylvania, and the University of Washington. Through this collaborative research project we hope to learn more about the genetic basis of specific heritable neurocognitive and neurophysiological deficits (called “endophenotypes”) in schizophrenia patients. These deficits in functions like memory can cause many “downstream” problems in activities of daily living.
Understanding the genetic components of these functions in schizophrenia patients is crucial to finding out about the neurobiological basis, risk factors, and heritability of this illness. It may also help to create more effective treatments, and hopefully someday, the development of a cure for this devastating disorder.
Dr. David Braff, the Director of the Consortium on the Genetics of Schizophrenia (COGS), and the other distinguished COGS faculty, have a long history of dedication to the treatment of schizophrenia patients and of successful peer-reviewed schizophrenia research. He and the roster of internationally-renowned schizophrenia researchers of the COGS are particularly interested in the role that the heredity of endophenotypes plays in vulnerability to and the development of the disorder. In order to enroll enough participants needed to complete a scientifically sound study, we wanted to include prominent clinical researchers and their “home universities” from across the country (see Investigators). As such, the COGS Principal Investigators at each University throughout the US have an established history of excellence in schizophrenia research.
After years of planning and working together, the project was submitted to the NIMH to request federal funding. The project was approved and funded in May 2003 as one of the most important and well-funded endeavors in mental health research. The project was approved for an initial period of 5 years (Phase I), and has now been funded for another 4 years (Phase II). Phase I focused on enrolling whole families in order to study familial similarities and genetics of endophenotypes in schizophrenia. For Phase II we are currently enrolling individual patients diagnosed with schizophrenia and healthy comparison subjects to expand on our findings (see Get Involved).
Purpose and Goals
Schizophrenia runs in families, but despite intense research efforts, the precise genetics of this complex and disabling disorder remain unknown. The first efforts to find a “schizophrenia gene” have been greatly complicated by the likely involvement of multiple genes. Therefore, researchers have developed new methods to tackle the goal of gene identification. Previous studies utilized the clinical diagnosis of schizophrenia as the trait of interest. In contrast to studying the genes that lead to schizophrenia, this study utilizes measures of brain functioning in schizophrenia patients as tools to help to understand the genetics of schizophrenia.
Many previously published scientific studies have shown that not only are people with schizophrenia more likely to show abnormalities in these endophenotypes, but so are their totally normally functioning first-degree relatives who do not have schizophrenia but are “gene carriers”. This model is also being successfully used in hypertension and diabetes research. The measures of brain functioning we look at are: memory, concentrations, brain waves, eye blink responses, and eye movements. Therefore, for Phase I of this study we enrolled families in order to “trace” these traits in the families and then trace the corresponding genes related to these traits. In order to do this we needed to measure the endophenotypes not only for the individual with schizophrenia but for all of their available first-degree relatives.
Phase II is now focus on enrolling 2,000 additional patients with schizophrenia and 1,000 community comparison subjects. The goal is to complete the necessary endophenotyping and genotyping in the new group of subjects and perform state-of-the-art genetic analyses in the new sample.
Ultimately, once genes related to endophenotypes in schizophrenia are identified, scientists can develop better treatments and potential cures that reverse these abnormalities.
We have completed Phase I of the COGS study and have now begun Phase II. Since the COGS was funded, we have tested hundreds of subjects and collected thousands of pieces of clinically important information. The COGS-1 database now includes extensive clinical and endophenotypic information from 305 patients with schizophrenia, 1,014 clinically unaffected family members and 770 sibpairs and 505 community comparison subjects, for a total of 1,824 participants.
We will be continuing these efforts in the next phase of the project, Phase II, by expanding the research and data analyses, enrolling 2,000 new patients and 1,000 new participants without schizophrenia and identifying new genetic findings and answers. The scientists are busy analyzing these data and publishing results to the scientific community. Many new publications are now available to the scientific and public community. Please see our Publications page for a list of selected papers produced from COGS.
We would like to thank all of the families who have been generous enough to donate their time and energy to the COGS project. We are very appreciative and can’t thank them enough for contributing to not only our project, but also to society’s need understand better the genetics of schizophrenia as a prelude to creating better models and treatments of this devastating disorder. Without their help and participation, the COGS project would not be as successful as it is right now. Together we hope researchers, patients, and their families will find the path to effectively preventing and optimally treating schizophrenia.