AGP
The Autism Genome Project
 "Investigating the genetic basis of autism"

AGP Links: Autism research

On this page:
2. Information on autism research
3. Resources on understanding genetics
4. Information for scientists

 

 

1. General information on autism:

CLICK HERE

2. Information on autism research:

Autism research consortia:

  • International Molecular Genetic Study of Autism Consortium (IMGSAC): is an international autism consortium that includes scientific researchers and clinicians from a number of European countries, as well as from Canada and the United States. IMGSAC aims to identify the genes involved in susceptibility to autism, and to understand the relationship of these genes to clinical outcome, in order to provide better intervention for autistic individuals and their families.
  • The Autism Genetic Resource Exchange Consortium (AGRE): is a DNA repository and family registry, housing a database of genotypic and phenotypic information for ASD that is available to the entire scientific community. The collection currently includes more than 800 multiplex and simplex families.
  • Autism Genetics Cooperative: includes researchers on autism from institutions in the USA, Canada, France, Ireland and Sweden.
  • The Collaborative Programs of Excellence in Autism (CPEA): conducts research to learn about the possible causes of autism, including genetics, immunological, and environmental factors, as well as diagnosis, early detection, behavioral and communications characteristics, and treatment of autism. Established in 1997 by the National Institute of Child Health and Human Development (NICHD) and the National Institute on Deafness and Other Communications Disorders (NIDCD) , the CPEAs are part of the international Network on the Neurobiology and Genetics of Autism.

Autism research projects

  • TASC project: the Autism Simplex Collection: is a project related to the AGP and running concurrently. It is funded by Autism Speaks (AS) and aims to gather medical information and genetic material, or DNA, from individuals who seem to have autism, as well as from their parents, and if available and willing, their brothers and sisters.
  • Simons Simplex Collection: The primary goal of the SSC is to establish a permanent repository of genetic samples from 2000 families, each of which has one child affected with an Autism Spectrum Disorder (ASD) and parents unaffected with ASD. Each genetic sample will have an associated collection of data that provides a precise characterization of the individual (phenotype). Rigorous phenotyping will maximize the value of the resource for a wide variety of future research projects into the causes and mechanisms of autism.
  • The Autism Tissue Program The Autism Tissue Program (ATP) was established: 1) to promote national awareness of the importance of brain tissue donation for the purpose of autism biomedical research; 2) to maintain a central database of registrants and available tissue; 3) to review requests for tissue and distribute tissue through its Tissue Advisory Board (TAB); 4) to promote information exchange among researchers through the TAB; and 5) to inform the autism community of research progress and findings.
  • The Collaborative Linkage Study of Autism (CLSA) Project: aims to identify autism susceptibility genes for the purpose of improving diagnosis and treatment for ASD. Funded by the National Institute of Mental Health (NIMH). Principal Investigator: Susan Folstein, MD, Tufts University.
  • The Autism Language Project: aims to identify autism susceptibility genes. Also focuses on the study of language characteristics in individuals with ASD and their family members. Project conducted in collaboration with researchers from the University of Iowa and Boston University, and funded by the National Institute of Neurological Disorders and Stroke (NINDS). Principal Investigators: Susan Folstein, MD, Helen Tager-Flusberg, PhD, J. Bruce Tomblin, PhD.
  • The Discordant Sibling Project: seeks to identify potential autism susceptibility genes by studying individuals with autism and their unaffected siblings. Funded by the March of Dimes. Principal Investigator: Susan Santangelo, ScD.

3. Resources on understanding genetics:

The below table provides links for selected external websites on understanding genetics:

Website
Article / Resource
Wellcome Trust Interactive sites:
(1) Chromosome browser: Find out more about the genes within each chromosome in the human genome, and; (2) Zoom in on your genome: Journey into the body to see where the genome is found
Glossary
National Center for Biotechnology Information (NCBI) What is a cell?
What is a genome?
Molecular Genetics: Piecing it together
Genome News Network (GNN) What's a genome?
Gene Reviews Illustrated Glossary
National Human Genome Research Institute (NHGRI) Talking glossary of genetic terms
List of other glossaries of genome / human genetics terms
Human Genome Project Human Genome Project: Information

The below table lists relevant articles from scientific publications, (accessible free of charge) on understanding genetics:

Journal
Title
Nature Genetics Article on CNVs:
Major changes in our DNA lead to major changes in our thinking

The following are useful reference books on understanding genetics:

  • A Dictionary of Genetics, Seventh Edition, R. King, W. D Stansfield, P. K. Mulligan, OUP, 2006.
  • Medical Genetics, I.D. Young, OUP, 2005.

4. Information for scientists:

Information on autism:

For a useful overview of genetic strategies in the search for autism susceptibility genes:

For useful overviews on the genetics of autism and the current state of genetic research (journal articles: not open access):

  • Lamb, Parr, Bailey and Monaco (2002). "Autism: In search of susceptibility genes". Neuromolecular Medicine 2: 55-72. [PubMed record]
  • Folstein and Rosen-Sheidley (2001). "Genetics of autism: complex aetiology for a heterogeneous disorder". Nat Rev Genet 2(12):943-955. [Med record] (not open access).
  • Muhle R, Trentacoste SV, Rapin I. "The genetics of autism. Pediatrics". 2004 May;113(5) [Med record]
  • "Autism's cause may reside in abnormalities at the Synapse" [News Focus in Science]

Research websites:

Diagnostic protocols:

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