Autism Spectrum Disorder Linked to NF1 Gene

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autism spectrum
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Autism spectrum disorder (ASD) is a developmental disorder characterized by social, communication, and behavioral challenges. The Center for Disease Control says one in 68 or 1.46 percent of children suffers from the condition. Males are more commonly affected than females. 

The condition is not a disease but a syndrome with genetic and non-genetic causes.  A mutation of the NF1 gene is a proposed genetic cause of Autism Spectrum Disorder. Current treatment methods are ineffective unless symptoms are spotted early in a child’s development. However, with the latest gene editing tools, there is hope for effective treatment via editing or removal of the mutated gene causing ASD altogether.

“While the number of children affected by autism is 1 to 2 percent in the United States, the NF1 gene exists in approximately only 100,000 people.”

What we Know About the Autism Spectrum Gene

MIT scientists have reversed the symptoms of autism after editing a gene linked to the condition.

After reviewing 531 patients at six clinical centers around the world, researchers from The Washington University School of Medicine in St. Louis (WUSTL) found that the neurofibromatosis type 1 gene (NF1) contributed to ASD in half of the patients. The team noted that they had just started realizing children with the NF1 gene were showing signs of ASD.

Neurology professor at WUSTL David Gutmann said to WUSTL news, “In the past, we didn’t really understand the association between NF1 and autism. But now we have new insights into the problem, which will allow us to design better treatments for children with NF1 and autism.”

Could This be the key to Understanding Autism?

While the number of children affected by autism is 1 to 2 percent in the United States, the NF1 gene exists in approximately only 100,000 people.

One of the researchers, John Constantino, says, “We have a single-gene disorder that affects a fairly large number of people and is causing autism in a significant number of those who are affected. This work could provide us with an opportunity to study a single gene and figure out what it is doing to cause autistic syndromes.”

Having identified one gene linked to ASD, and after successfully reversing symptoms of the condition after editing the gene, the next challenge for researchers is to understand how NF1 causes autism.

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