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to find the causes of schizophrenia and bipolar disorder.»
We hope study participants and their families,
researchers, mental health professionals, and the general public will find the information and resources
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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 2011
Read our Latest Newsletter
Current Data Collection:
1. Ashkenazi Jewish
Study in Schizophrenia. We have current
funding from the the National
Institute of Mental Health to enroll more individuals of Ashkenazi Jewish
descent into our studies of Schizophrenia and Schizoaffective disorder. If
you or someone you know is interested in participating, please
2. Ashkenazi Jewish
Study in Bipolar Disorder. We
currently do not have funding for additional data collection for this study.
We appreciate the many who have participated in the past - analyses of data from
their participation is ongoing. We also appreciate the many individuals
who are still waiting for funding to be reinstated so that they can participate.
3. Functional Capacity
We received funding from the National
Institute of Mental Health to conduct a research study to focus
on detecting the relationship between genes and the ability of those affected
with severe psychiatric conditions to function
effectively in daily activities. We are revisiting many of the individuals of Ashkenazi descent who have
previously enrolled in our genetic studies.
We visit individuals in their homes or another location of their choice.
Participants are 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 in the
Department of Psychology at Emory University in Atlanta,
Christopher Bowie, Ph.D. in the
Department of Psychology
at Queen's University
in Kingston Ontario, and Thomas
Patterson, Ph.D. and
Brent Mausbach in the Department
of Psychiatry at the University of California at San Diego.
RECENT ANALYSES AND PUBLICATIONS:
(This is a basic summary of some
recent findings. For more detail, please read about our
MAPPING IN CANDIDATE CHROMOSOMAL REGIONS. Using DNA available from over
1500 Ashkenazi Jewish volunteers, we followed up leads from our linkage scan
of the genome for schizophrenia susceptibility loci on chromosome 10q.
These analyses provided confirmatory evidence for the role of the Neuregulin 3
gene (NRG3) in Schizophrenia. Similarly, we followed up leads from scans
of the genome for bipolar disorder susceptibility loci (chromosome 18p11).
Those analyses revealed two loci with putative parent-of-origin
effects. These loci confer a fourfold to sixfold risk for bipolar
disorder when the allele comes from the father rather than the mother.
FOLLOW-UP LINKAGE SCAN WITH FOCUS ON REGIONS WITH
PREVIOUS POSITIVE LINKAGE SCORES. Our
previous linkage scan yielded possible regions of interest for bipolar
disorder in the Ashkenazi Jewish sample. In a follow-up scan, we added
145 more markers to those regions in order to investigate them more closely.
Evidence for linkage increased in nearly every point of interest, most notably
a promising area of chromosome 12p13.1-p12.3. This region harbors the
GRIN2B gene, which showed evidence for bipolar disorder association in our
Ashkenazi Jewish sample (see below)
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. In 2006, follow-up genotyping and
analyses for the most significant genes was completed. We discovered six
genes that met criterion for significant evidence for association with bipolar
disorder (DAO, IL2RB, GRM3, GRM4, GRIN2B, and TUBA8),
six that met this criterion for schizophrenia (SCA1, GRM4, DPYSL2,
and NOS1), and another five that showed
overlapping suggestive evidence of association in both disorders
(DTNBP1, DPYSL2, G30/G72, GRID1, and NOS1).
These results may help to prioritize candidate genes for future study from
among the many suspected/proposed for schizophrenia and bipolar disorders.
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