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

The Marcus Autism Center Discusses Research and Mission

Posted by Danyella Davis on Apr 28, 2016 11:00:00 AM

The Marcus Autism Center is one of the largest clinical centers for autism care in the U.S., impacting nearly 10,000 kids a year outside its walls and 5,000 at its Briarcliff location. This outpatient facility continues to create innovative treatments through impactful research.

The prevalence statistics can be staggering: at 1 in 68 children in the U.S., the rate of autism spectrum disorders (ASD) are higher than that of all childhood cancer, juvenile diabetes, muscular dystrophy, and cystic fibrosis cases combined. Marcus Autism Center is striving to make autism an issue of diversity, not one of disability.

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Topics: Autism, awareness

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 could 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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