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Tero Toivanen

New Study: Autism has Multiple Genetic Roots | Suite101 - 3 views

suite101.com/...multiple-genetic-roots-a246721

autism research study

shared by Tero Toivanen on 10 Nov 12 - No Cached
  • The study’s major finding was that children with ASD have significantly more CNVs affecting their genes than children without ASD. Children with ASD have 20 percent more CNVs in general, and 70 percent more CNVs impacting genes known to be associated with ASD or cognitive problems. Significantly, many of the genes that are affected control important functions such as cell proliferation and cell-to-cell communication.
  • Some of the newly discovered genetic variants are inherited, and are found in parents or siblings of children with them. Others, however, seem to have originated spontaneously in the affected child, and do not appear in other family members.
  • While these findings add significantly to the scientific understanding of the genetic and biological underpinnings of ASD, the immediate usefulness is limited. That’s because there are a very large number of CNVs, and each child shows a different pattern of genetic changes. Each of these changes is rare; no CNV showed up in more than one percent of the children studied.
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  • “This will lead to a paradigm shift in understanding the etiology of autism,” says Stephen Scherer, a senior scientist at The Hospital for Sick Children in Toronto, Canada. “Until now, most scientists thought individuals with autism shared common genes. We now think each person has his own rare variations.”
  • If significant CNVs show up, behavioral treatment can be started early. That has been shown to improve children’s outcomes significantly. “If we provide stimulation early, while the brain is still plastic, we can improve cognitive development, social interaction and communication,” says Geri Dawson, Chief Science Officer of Autism Speaks, the major sponsor of the research project.
  • What this new research suggests is that autism and ASD probably result from the interaction between many different genes and a child’s environment. Rather than search for one single cause and one “magic bullet,” researchers will try to find as many significant genetic variants as possible, link them to the biological functions and pathways they control, and then search for medications that can improve or normalize the functioning of damaged pathways.
Tero Toivanen

NeuroLogica Blog » The Genetics of Autism - 0 views

www.theness.com/neurologicablog

autism genetics

shared by Tero Toivanen on 03 May 09 - Cached
  • What this means is that there is likely to be a complex set of many factors that contribute to ASD - not one single cause.
  • The same exact situation is true for other entities, like schizophrenia and attention deficit disorder (ADD).
  • One difference, however, is that schizophrenia and ADD likely represent changes to particular parts of the brain, while autism is likely due to changes in the global architecture of the brain.
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  • Getting back to the genetics of autism, current models are therefore consistent with what is being found when the genetics of autism is researched - researchers are finding many genes that predispose to autism in a subset of cases but no single or simple universal cause. At present, 133 different gene variants have been linked to autism.
  • This new research, conducted by Dr. Hakon Hakonarson of the Children’s Hospital of Philadelphia, is a genome wide analysis involving about 10,000 individuals.
  • The results are especially significant because the variants lie between two genes, called CDH9 and CDH10, which are known to play an important role in forming nerve connections in the brain.
  • The gene variants that correlated with ASD are for proteins that are involved in the process of neurons forming connections with each other. There is already other lines of evidence that suggest what is different in ASD brains is a decrease in the amount of interconnectedness and communication among neurons. It is therefore likely no coincidence that this study found genetic correlations for proteins involved with neuronal connections.
  • This also is compatible with the finding that many separate genes are potentially involved with ASD - for there are many separate genes and processes involved with forming and maintaining neuronal connections.
  • Tero Toivanen on 03 May 09
     
    A new genome-wide analysis of families with autism has found significant gene associations, adding to the growing evidence for strong genetic contribution to autism.
Tero Toivanen

A week ago, a new study published in the Archives of General - 0 views

www.theautismnewswire.com/NewsITems.aspx

study autism research gene mutation ASD sporadic spectrum disorders de novo spontaneous mutations intellectual disability epilepsy

shared by Tero Toivanen on 22 May 11 - No Cached
  • The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism.
  • The team identified 21 spontaneous mutations -- meaning they weren't inherited from either parent -- in the children's DNA. Eleven of these were mutations that would alter the protein encoded by the affected gene. In four of the 20 children, the researchers found mutations that were severe, some of which have been previously linked to autism, intellectual disability, and epilepsy.
  • one child had a mutation in the GRIN2B gene, which is crucial for neuronal signaling.
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  • Another individual had an extra nucleotide in FOXP1, a gene that, along with its close relatives, has been heavily implicated in language defects.
  • These new findings support the 'multi-hit' model of autism, which suggests that having more than one mutation can cause or worsen symptoms of autism and other brain disorders. The different combinations of mutations may contribute to the heterogeneity in ASDs.
  • That such different combinations of genetic mutations contribute to a child being autistic could account for why individuals with an ASD diagnosis have some very similar, and very different, features.
  • Tero Toivanen on 22 May 11
     
    "The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism."
Patti Porto

National Autism Center - 0 views

www.nationalautismcenter.org

asd autism research

shared by Patti Porto on 17 Apr 15 - Cached
  • Patti Porto on 17 Apr 15
     
    The National Autism Center is May Institute's Center for the Promotion of Evidence-based Practice. It is a nonprofit organization dedicated to disseminating evidence-based information about the treatment of autism spectrum disorder (ASD), promoting best practices, and offering comprehensive and reliable resources for families, practitioners, and communities.
Patti Porto

ASERT PA Autism > Philadelphia Autism Project > About the Project > Project Highlights ... - 0 views

www.paautism.org/...videogallery.aspx

autism asd video family

shared by Patti Porto on 13 Nov 15 - No Cached
  • Patti Porto on 13 Nov 15
     
    "These groundbreaking family-focused films detail the emotional reality of dealing with an autism diagnosis; how it affects the family unit and the unique challenges that families from diverse cultural backgrounds face. The goal of these videos is to increase awareness, in order to help children from underserved families to become better armed to obtain equal services."
Graeme Wadlow

Primary Care for Children with Autism - 0 views

www.aafp.org/...p453.html

Autism ASD

shared by Graeme Wadlow on 04 Jan 12 - No Cached
  • Graeme Wadlow on 04 Jan 12
     
    Primary Care for Children with Autism - February 15, 2010 - American Family Physician
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