Columbia University researchers are involved in a multi-site consortium
to gather and bank DNA samples from 2,000 autism patients and their
families over the next three years.
The Simons Simplex Collection (SSC) is a coordinated effort to create a
database of information about cases where there is only one family
member with autism. This group, which represents the great majority of
autism spectrum disorders, may lead us to new insights regarding the
underlying mechanisms of autism. Earlier efforts, such as the work of
Cure Autism Now and the Women's Health Initiative, studied multiplex
families or families with two or more siblings with autism.
The Columbia University research is being led by Bradley Peterson,
Director of the Division of Child Psychiatry at Columbia University
College of Physicians and Surgeons & Director of the Department of Child
Psychiatry at the New York State Psychiatric Institute. "This will be
a landmark study in the history of our understanding of the causes of
autism, and one in which we are proud to participate. Its bank of DNA
samples will provide an invaluable resource for scientists across the
world to study both the genetic and non-genetic causes of autism for
generations to come. Findings from the study will aid the development of
better diagnostic tests and improved treatments for autism," says Dr.
Peterson.
Families are currently being recruited to participate in an initial
assessment and then may be invited into other research projects as work
continues. Eligible families include just one child with an autism
spectrum disorder (ASD), age five or older; one or more siblings without
ASD, age four or older; and both biological parents who are willing to
participate.
The Simons Initiative will be carried out in existing university-based
clinics by individual investigators from different universities
throughout North America including Emory University, Harvard University,
McGill University in Montreal, the University of California, Los Angeles
(UCLA), the University of Illinois-Chicago, the University of Michigan,
the University of Missouri, the University of Washington, Vanderbilt
University, Washington University, and Yale University.
The Simons initiative was launched by mathematician and philanthropist
Jim Simons and his wife, Marilyn, to find causes and cures for the wide
range of conditions called autism spectrum disorders. In addition to
establishing the SSC, the Simons Foundation has recruited world renowned
scientists to join the initiative.
Gerald Fischbach, a neurobiologist and former Director of the National
Institute of Neurological Disorders and Stroke at the NIH, oversees the
Simons Foundation Autism Research Initiative. "All future studies
depend on the accuracy of the clinical assessment. We have adopted the
very best practices in the field and we have trained and certified
clinicians at each university site. This effort is unprecedented in its
depth of analysis and in the potential for follow-up studies over
time," says Fischbach.
Recent scientific findings suggest that there may be many forms of
autism. There are core deficits that define ASD, yet there is a great
deal of variation in the behaviors and level of functioning among
children and adults with ASD. Catherine Lord, a nationally known autism
researcher and lead investigator of the Simons Simplex Collection, notes
that the Centers for Disease Control and Prevention (CDC) estimates that
about one of every 150 children are now diagnosed with some form of ASD.
Researchers say it is important to identify sub-types of autism in
order to develop appropriate treatments or prevention strategies. A key
benefit of the Simons Simplex Collection is its ability to support
research across a range of areas with an adequate sample to address
different sub-types.
Autism is a complex developmental disability that typically appears
during the first three years of life. Autism spectrum disorders impact
the development of brain processes related to social interaction,
communication skills, and movement control. According to Lord,
"Medications may help with related conditions such as depression
and hyperactivity, but currently, the best way to deal with autism is to
intervene as early as possible to treat the condition."
DNA gathered through the Simons Simplex Collection will be stored at a
central repository and will be distributed to qualified investigators
throughout the world. The privacy of all families involved will be
protected at every step in the research process. The collaboration of
scientists and affected families across the nation to assemble this data
bank will, for the first time, offer genuine and well-founded hope that
by improving our understanding of the causes of autism we will be able
to develop truly effective treatments that will benefit the autistic
children and their families," says Dr. Peterson. "This is an
important step toward the rational development of more effective
therapies and prevention strategies for autism. We are all working
tirelessly together to ease the burden on children and their families
from this devastating condition."
childpsych.columbia
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