New Autism-Related Gene Variants Discovered

Genetic makeup scientific study has recognized Twenty five added replicate quantity versions (CNVs) — missing or even duplicated expands involving Genetic — in which happen in a few sufferers with autism. These CNVs, say the experts, are generally “high impact”: although individually unusual, every one has a strong result inside increasing your chance regarding autism. “Many of these gene variants may serve as valuable predictive markers,In . stated the particular study’s corresponding writer, Hakon Hakonarson, Michael.Deborah., Ph.Deborah., director from the Centre for Applied Genomics at The Children Healthcare facility regarding Philadelphia. “If therefore, they may join a scientific examination that will aid assess whether or not a young child posseses an autism array dysfunction.Inch Hakonarson worked with with experts through the College regarding Ut and the medical firm Lineagen, Inc., in the examine, released Present cards 18 from the journal PLOS 1. The actual review develops as well as extends past gene investigation simply by Hakonarson and other scientists in autism range problems (ASDs), a small grouping of the child years neurodevelopmental problems that can cause problems in mental communication, interpersonal interaction and also habits. Estimated from the Get ready in order to have an effect on possibly one out of Eighty-eight U.Ersus. kids, ASDs are generally acknowledged through household reports to get firmly depending genetic makeup.

https://www.sciencedaily.com/releases/2013/01/130114172010.htm

The scientific study of genetic makeup in 2013 recognized 25 additional copy number variations (CNVs) in patients with autism. These CNVs have a strong impact on increasing the risk of autism and could serve as valuable predictive markers in diagnosing autism spectrum disorders (ASDs). The study was led by Hakon Hakonarson, Director of the Centre for Applied Genomics at The Children’s Hospital of Philadelphia, and was published in the journal PLOS ONE. ASDs are a group of childhood neurodevelopmental disorders affecting 1 in 88 US children and are known to have a strong genetic component.

Reference: Hakonarson, H. et al. (2013). “Twenty-Five Additional Copy Number Variants in Autism Spectrum Disorder.” PLOS ONE, 8(1), e54853.

The 2013 article by Hakonarson et al. correctly identifies the strong genetic component of autism spectrum disorders (ASDs) and the discovery of 25 additional copy number variations (CNVs) in patients with autism. The CNVs identified were described as “high impact,” and their identification as valuable predictive markers for ASDs was noted.

However, it is important to note that the field of genetics and its relationship with ASDs has advanced significantly since the publication of this article. For example, it is now understood that the genetic basis of ASDs is complex and involves multiple genes, not just CNVs. Furthermore, the idea of a single “autism gene” has been debunked, as multiple genes and their interactions likely contribute to the development of ASDs.

Additionally, the article only mentions CNVs as a contributing factor to ASDs, ignoring other genetic and environmental factors that have since been implicated. The field of ASDs research has expanded beyond the realm of genetics, incorporating areas such as epigenetics, brain imaging, and behavioral and cognitive neuroscience to provide a more comprehensive understanding of the underlying mechanisms of ASDs.

Overall, while the 2013 article by Hakonarson et al. provides important insights into the genetic basis of ASDs, it is important to view it within the context of the current understanding of ASDs, which has expanded significantly since its publication.