EGL Genetics Blog

Latest Findings in Autism Research

Posted by Eleina Cox on Apr 19, 2017 3:00:00 PM

In 2007, the United Nations designated April 2nd as World Autism Awareness Day. Since 2013, all subcatergories of autism ( i.e. Asperger syndrome and pervasive developmental disorder not otherwise specified) have been placed 
under an umbrella diagnosis of autism spectrum disorder (ASD). With one in 68 children diagnosed with ASD, autism is a well-known medical condition, and awareness of it has permeated everyday life. In the United States, federal laws such as the Autism CARES Act of 2014, a bipartisan effort signed by President Obama, authorized more funding for research, assistance programs and provided protection for those living with ASD. In pop culture, movies such as Rain Man, have showcased leading characters with autistic features. Two weeks ago, Sesame Street, the American children’s television series, debuted Julia, its first muppet with autism, to the cast. As public awareness continues to grow, the importance of further research to better understand the etiology of autism becomes even more vital.

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Topics: Autism, awareness, Autism Spectrum Disorder, whole genome sequencing, research funding

Defying Limitations for Autism Spectrum Disorder

Posted by Danyella Davis on Apr 12, 2017 3:00:00 PM

Thank you to this month's guest blogger, Kanetra Woods, for sharing her son's journey. 

 

In light of National Autism Awareness Month, we're excited to have the opportunity to set aside a series of blogs that will educate the medical and patient communities about autism spectrum disorder, a developmental disability that ranges in severity and symptoms, and is nearly 5 times more common in boys than in girls. 

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Topics: Autism Spectrum Disorder

Comprehensive Genetic Testing for Autism

Posted by Eleina Cox on Apr 14, 2016 11:00:00 AM

Researchers have identified several genetic causes of autism spectrum disorder (ASD), including chromosome abnormalities, copy number variants, metabolic changes, and single-gene disorders. The diagnostic yield for identifying a specific genetic etiology has been reported as 6-15%, which should improve once genetic testing methods evolve, scientific literature expands, and clinical experience increases (Schaefer et al. 2013). The specific genetic defect may be molecular, cytogenetic or biochemical in nature, therefore choosing a comprehensive lab that offers all three types of testing may be advantageous. Keep reading to learn more about EGL's approach to genetic testing for ASD.  

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Topics: neurogenetics, genetic testing, Autism, Autism Spectrum Disorder

Exploring the Autism Spectrum

Posted by Eleina Cox on Apr 7, 2016 11:03:23 AM

According to the CDC about 1 in 68 children and over 3 million individuals total in the United States, and tens of millions worldwide, are estimated to have ASD. In addition, boys are 4 times more likely than girls to develop an ASD. Most cases appear to be caused by a combination of autism risk genes and environmental factors influencing early brain development.

While many people are familiar with autism, keep reading to learn more about the autism spectrum.

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Topics: neurogenetics, Autism, Autism Spectrum Disorder

 

 

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