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The Montreal Children's Hospital of the MUHC begins search for causes of autism
May 08, 2008Dr. Eric Fombonne, from the Research Institute of the MUHC at the Montreal Children's Hospital, is involved in a multi-site consortium to gather 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 genetic and behavioral information about cases where there is only one family member with autism. This group, which represents the great majority of autism spectrum disorders, Is expected to lead to the discovery of new genetic factors that increase the risk of autism.
In addition, this database will be accessible online by the scientific community and will represent an invaluable tool for future research projects.
"This database will link state-of-the-art genetic analysis to very detailed behavioral assessments. This is an unprecedented project that could greatly enhance our understanding of underlying biological processes," explains Dr. Fombonne. "This is an important step towards the unraveling of genetic mechanisms and understanding the pathophysiology of this disorder of brain development."
Families are currently being recruited to participate in an initial assessment and then may be invited to participate in other research projects as work continues. Those eligible to participate are families with only one child with an autism spectrum disorder (ASD) who is four years of age or older; with one or more siblings without an ASD, age four or older; and biological parents without an ASD and who are willing to participate. Eligible children with an ASD will receive a behavioral assessment and all family members will donate blood, a source of DNA. A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.
"The MUHC is committed to recruiting 200 families by the end of 2009. This represents an important challenge, but being the only centre in Canada we hope to be able to attract the required number of English speaking patients," says Dr. Fombonne.
In addition to the Research Institute of the MUHC, the SSC will be conducted at Baylor University, Columbia University, Emory University, Harvard University, 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.
McGill University Health Centre
"This database will link state-of-the-art genetic analysis to very detailed behavioral assessments. This is an unprecedented project that could greatly enhance our understanding of underlying biological processes," explains Dr. Fombonne. "This is an important step towards the unraveling of genetic mechanisms and understanding the pathophysiology of this disorder of brain development."
Families are currently being recruited to participate in an initial assessment and then may be invited to participate in other research projects as work continues. Those eligible to participate are families with only one child with an autism spectrum disorder (ASD) who is four years of age or older; with one or more siblings without an ASD, age four or older; and biological parents without an ASD and who are willing to participate. Eligible children with an ASD will receive a behavioral assessment and all family members will donate blood, a source of DNA. A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.
"The MUHC is committed to recruiting 200 families by the end of 2009. This represents an important challenge, but being the only centre in Canada we hope to be able to attract the required number of English speaking patients," says Dr. Fombonne.
In addition to the Research Institute of the MUHC, the SSC will be conducted at Baylor University, Columbia University, Emory University, Harvard University, 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.
McGill University Health Centre
Autism Current Events and Autism News RSSM.I.N.D. Institute researchers find important clue to learning deficit in children with autism
A study by researchers at the UC Davis M.I.N.D. Institute has discovered an important clue to why children with autism spectrum disorders have trouble imitating others: They spend less time looking at the faces of people who are modeling new skills.
Survey confirms parents' fears, confusion over autism
The first national survey of attitudes toward autism reveals that a small but significant percentage of people still believe the disease is caused by childhood vaccines. The survey of 1000 randomly selected adults was conducted for the Florida Institute of Technology.
UCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome
A UC Riverside-led team of biomedical scientists has found that a readily available drug called minocycline, used widely to treat acne and skin infections, can be used to treat Fragile X syndrome, the most common inherited cause of mental impairment and the most common cause of autism.
Groundbreaking findings on autism to be presented at Carnegie Mellon international symposium
Today's autism research draws on a variety of scientific disciplines, from genetics to functional magnetic resonance imaging (fMRI) to neural development. At the 35th Carnegie Symposium on Cognition, "Development and Brain Systems in Autism," 16 of the world's most prominent autism researchers will present their latest groundbreaking findings on the disorder and discuss the direction of future study that will continue to improve scientists' understanding of autism.
Toddlers' focus on mouths rather than on eyes is a predictor of autism severity
Scientists at Yale School of Medicine have found that two-year-olds with autism looked significantly more at the mouths of others, and less at their eyes, than typically developing toddlers. This abnormality predicts the level of disability, according to study results published in the Archives of General Psychiatry.
Rare genetic disorder gives clues to autism, epilepsy, mental retardation
A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into a possible cause of some neurodevelopmental disorders: structural abnormalities in neurons, or brain cells.
Aberrations in region of chromosome 1q21.1 associated with broad range of disorders in children
Researchers have discovered a submicroscopic aberration in a particular region of human chromosome 1q21.1 that appears to be associated with a variety of developmental disorders in children.
Study firmly shows no connection between measles, mumps, rubella (MMR) vaccine and autism
In a case-control study, the presence of measles virus RNA was no more likely in children with autism and GI disturbances than in children with only GI disturbances.
Gene associated with pair-bonding in animals has similar effects in human males
Variation in the gene for one of the receptors for the hormone vasopressin appears to be associated with how human males bond with their partners, according to an international team of researchers.
The first autism disease genes
The autistic disorder was first described, more than sixty years ago, by Dr. Leo Kanner of the Johns Hopkins Hospital (USA), who created the new label 'early infantile autism'.
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