Novel Genetic Variants Associated with Autism Spectrum Disorder

Reported in the journal G3 (GenesGenomesGenetics) by Population Diagnostics, Inc together with collaborators from The Hospital for Sick Children, the discovery of collection of gene variants for autism spectrum disorder which can lead to early detection diagnostic test and provide insights into the emerging field of drug discovery for autism.

 Dr. Stephen Scherer at the Hospital for Sick Children stated that they are set out to understand the differences in copy number variant (CNV) detection and with the help of Population Diagnostics they were also able to effectively interpret the genome at a higher resolution than obtained with the previous utilized microarrays.

 Together with the confirmed variants in genes, an abundance of novel variants have also been uncovered.  CNV’s, a type of genetic variant that can disrupt, delete, or generate multiple copies of a gene shows that 64% of the CNV observed in this study were missed in prior study using the SNP microarrays because is not originally designed to detect another class of variant called single nucleotide polymorphism

The size of CNVs that can be detected is a key difference, and in this study the researchers found that 75% of the CNVs missed by SNP microarrays were small and these afford a greater opportunity to pinpoint single genes involved in autism.

 Dr. Peggy Eis, Chief Technology Officer at Population Diagnostics stated that “Collectively, these newly discovered genes from our collaboration with SickKids, represent a significant portion of the unexplained genetic contribution to autism and greatly expand our understanding of the underlying genetic causes of autism. We are excited about the opportunity to accelerate their clinical use in diagnostic tests, as potential drug targets and as genetic bio markers in therapeutics development.”

 Although there are no single causes or type of autism, 90% of cases are believed genetics is the major cause. The discoveries made by Population Diagnostics, Inc. and The Hospital for Sick Children there will be more effective testing of the various genetic causes, a genetic test can be performed immediately after the birth of a child and provide the maximum opportunity for treatment.



Please refer to the full article below.


This entry was posted in Autism Action Alerts, Autism Awareness, Autism Causes, Autism Diagnosis, Autism in the Family and tagged , , , , , . Bookmark the permalink. Post a comment or leave a trackback: Trackback URL.

Post a Comment

Your email is never published nor shared.

You may use these HTML tags and attributes <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>