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                        «Working to find the causes of schizophrenia and bipolar disorder.»
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         We hope study participants and their families, researchers, mental health professionals, and the general public will find the information and resources here helpful. We encourage visitors to this site to click here to give us feedback. Our Mission Statement explains the goals of the project, started in 1983, by Ann E. Pulver, Sc.D., and the Project History will give you an idea of the progress we have made since we began our work more than two decades ago.  Below you will find an update on the many aspects of our scientific research.

New In 2007

Read our Latest NewsLetter: Summer 2007 NewsLetter

       New 5-Year Research Study (2007-2012). We have received additional funding from the National Institute of Mental Health to conduct a new research study which will focus on detecting the relationship between genes and the abilityof those affected with sever psychiatric conditions to function effectively in daily activities. We would like to revisit many of the individuals of Ashkenazi descent who have previously enrolled in our genetic studies. We will visit individuals in their homes or another location of their choice. Participants will be asked to take part in a brief interview regarding their typical day-to-day functioning as well as to perform simple tasks that contribute to practical daily functioning. Collaborators on this new research include Philip D. Harvey, Ph.D., and Chrisotopher Bowie, Ph.D., at Mt. Sinai School of Medicine in New York, and Thomas Patterson, Ph.D. in the Department of Psychiatry at the University of California at San Diego.

    Support from The Wasie Foundation. The Wasie Foundation is a Minnesota-based philanthropic organization that has long supported innovative interventions targeting schizophrenia, arthritis, cancer, and children’s medical problems. They have provided generous support in the past year to underwrite our communication efforts through this website and through our newsletters. We are grateful for the opportunity to update the information you find
on this website and for the ability to reach out to our volunteers through the newsletters.

      New Scientific Collaborations. We are please to announce 3 recently funded collaborative research projects employing a variety of scientific approaches to help understand the genetic basis of psychiatric disorders.

Dr. David Valle, director of the McKusick-Nathans Institute of Genetic Medicine here at Johns Hopkins, has been awarded a NARSAD Distinguished Investigator award for 2007. NARSAD (the Mental Health Research Association) funds these awards to allow proven investigators to test exciting ideas for innovative studies. Dr. Valle will study the chromosome 10 candidate region for schizophrenia using DNA's from our Ashkenazi families.

Stephen Warren, Chairman, Department of Human Genetics at Emory University , has received 5-year funding through a federal grant from NIH to study "copy number variation" (CNV) (gains and losses of segments of DNA) using DNA's from our volunteer Ashkenazi Jewish families and from our Ashkenazi Jewish Control Repository. Powerful new technologies have become available to look at CNV's throughout the human genome and assess their impact on gene expression and function.

Joseph Cubells, MD, PhD, associate professor of Human Genetics and Psychiatry and Behavioral Sciences at Emory University School of Medicine, will continue his studies of a candidate gene for schizophrenia (gene name is DBH), in a new federal grant from NIH. These studies will use highly sensitive assays for DBH activity in plasma to identify novel target chromosomal regions contributing to DBH activity. These analyses will use DNAs and blood samples from our non-Ashkenazi European Caucasian families, generally collected as part of the Maryland Epidemiology Sample.

These exciting new collaborations take advantage of recent technological advances that hold great promise to advance our state-of-the-art research goals.

SOME OF OUR LABORATORY EFFORTS COMPLETED IN 2006:

FINE MAPPING IN CANDIDATE CHROMOSOMAL REGIONS. Using DNA available from over 800 Ashkenazi Jewish volunteer families, we are following up leads from scans of the genome for schizophrenia susceptibility loci (chromosome 10q)(Fallin et al., 2003) and bipolar disorder susceptibility loci (chromosome 18p11) (Fallin et al., 2004). The follow-up studies were be conducted using state-of-the-art dense marker genotyping (Illumina BeadArray^TM technology) at the Johns Hopkins SNP Center, and anlyses are on-going.
SCANNING WHOLE CHROMOSOMES. Using DNA available from our 140 non-Ashkenazi volunteer families (many of whom volunteered as participants in the Maryland Epidemiological Sample (or M.E.S.)), we are following up leads from our previous independent genome scan for schizophrenia susceptibility loci (chromosomes 8p, 13q, and 22q) (Blouin et al., 1998) and also are conducting a newer and more sensitive genome scan as part of a collaborative investigation with 7 other international groups of scientists (the combined family collection includes our 140 families and DNA from 850 other families). The marker genotyping for ~6000 markers has recently been completed at the Center for Inherited Disease Research (CIDR) and analyses are underway, to be published in 2007.
SCANNING GENES. In addition to scanning the genome looking for regions harboring susceptibility genes, we also have taken a more direct approach by conducting studies to look directly at variation in 64 candidate genes for both bipolar disorder and schizophrenia. Genes were selected based on previously reported associations and/or known biological function. The family collections used for 'gene scanning' included DNA from all of our eligible Ashkenazi Jewish families. These results were published in the American Journal of Human Genetics (Fallin et al., 2005),. In 2006, follow-up genotyping and analyses for the most significant genes was completed. a manuscript is in preparation