With more research hours and funds put into studying neuro-behavioral conditions like autism, ADHD, etc., than ever before, more is coming to be known about these otherwise baffling disorders. Thus research gives us a new perspective on how we look at these situations and helps us manage and treat them better. So, what are the latest findings on autism? Here is a brief on two research projects:
1. Copy-Number Variations or CNVs studied in the Autism Genome Project (AGP):
The Autism Genome Project began in 2004. The initial phase of the project aimed at accumulating the world’s largest gene bank to be able to identify autism susceptibility genes. This was successfully concluded in early 2007 and was known as AGP Phase 1. It was a large scale collaborative research project with more than 120 scientists from the U.S. and U.K. joining in to study and share their knowledge on the subject.
In June, 2010, Singularity Hub ran an article stating that the scientists of the AGP Phase 1 were agreeing that a type of genetic mutation called copy number variations was at the center of ASD (Source: Singularity Hub; Article Name: New Research Sheds Light on Autism’s Genetic Causes; Author: Drew Halley; Date: June 15th, 2010; URL: http://singularityhub.com/2010/06/15/new-research-sheds-light-on-autism%E2%80%99s-genetic-causes/).
It went on to explain that since we inherit 23 chromosomes from each parent, we have two copies of each gene or DNA segment. When there are alterations of the DNA of a genome, one outcome could be an abnormal number of copies of one or more sections of the DNA. This is called the copy number variation, or CNV. It may also happen that a deletion leaves one set, and sometimes "duplication" results in three or more sets.
It was also detected that there was a positive correlation between CNVs and occurrence of autism in the child. Such CNVs went ahead to affect neuronal and intellectual development of the child.
AGP Phase 2 is currently ongoing and aims to identify meaningful common and rare genetic variants that are associated with autism spectrum disorders (ASD) including copy number variations.