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Herb Lachman, M.D. Department of Psychiatry, Program in
Behavioral Genetics, Albert Einstein College of Medicine The burden of juvenile-onset bipolar disorder—on children and their families, the health care system, the educational system, and society at large—is substantial. Finding the genes that are responsible for early-onset bipolar disorder is the surest route to determining the underlying causes of the illness and will be a major step towards identifying new treatments that work at the source of the illness. JBRF has launched a five-year study that will result in a genome-wide and candidate gene search for the gene or genes that cause juvenile-onset bipolar disorder. Researchers who are collaborating on this study have elected to use “the affected sibling pair method” to tackle this effort. This requires mapping the genes of two or more full biological siblings who are diagnosed with the disorder from hundreds of families across the nation. An “affected sib pair study” has been chosen because it is thought to be the most powerful method to identify genetic markers for conditions such as bipolar disorder that are believed to be caused by multiple genes. This strategy examines DNA markers on every chromosome and targets those that are shared by both affected siblings more commonly than chance would predict. Since brothers and sisters are expected to share a marker from one parent 50% of the time, any significant increase above the 50% level would home researchers to a chromosomal region in which the shared marker might also contain a gene for a shared trait, in this case, bipolar disorder. The study we propose requires the identification of 400-500 sibling pairs—an ordinarily daunting and multi-year task, but a confluence of resources available to JBRF has moved recruitment for the study three years ahead of schedule—well beyond expectations. Over 400 sibling pairs have been identified to date. This head start, provided by JBRF in the first year of the funding, has been the result of a novel Web-based recruitment and diagnostic screening program which allows parents to complete online questionnaires, and provides researchers with a rapid method for screening and sorting large numbers of subjects. JBRF also has access to a 23,000 targeted e-mail list which allows contact with parents of bipolar children and adolescents across the nation, as well as the JBRF Professional Listservs of child psychiatrists, neurologists, and therapists who can recommend children into the study. These sibling pairs are now undergoing comprehensive diagnostic assessments, performed by masters level interviewers. Diagnoses will be given by research psychiatrists using a time-efficient, state-of-the art online diagnostic workshop funded by JBRF to facilitate this effort. During this phase of the study, blood samples are drawn from subjects and sent to the Laboratory of Behavioral Genetics at the Albert Einstein College of Medicine where the DNA is extracted for genotyping and then immortalized for cell lines. Once this part of the project is completed, a genome-wide screening will begin. James Knowles, M.D., Ph.D of Columbia University will oversee the genotype-wide screening that will use the affymetrix 10K chip. Jurg Ott, Ph.D., chief of the Laboratory of Statistical Genetics of Rockefeller University and one of the leading statistical geneticists and Josephine Hoh, Ph.D., also at Rockefeller University, will conduct the statistical analysis. This archived DNA will allow other talented researchers around the world access to our resources and enhance the possibility of gene discovery. Back to Research Studies
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New: Are you interested in finding out if your children qualify to participate in the JBRF's research studies? Learn more here. Context and Summary of JBRF Sponsored Research Clinical Phenomenological Study of Childhood-onset Bipolar Disorder Neuropsychological Testing in Juvenile-onset Bipolar Disorder
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