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September 20
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A MyAutismTeam Member

Who/what are you? This doesn’t answer my question at all.

September 21
A MyAutismTeam Member

Simons Powering Autism Research (SPARK) study has revolutionized autism genetics by identifying hundreds of genetic risk variants and new classes of genes linked to autism spectrum disorder (ASD).Key Findings on Genetic Mutations and AutismDe Novo (New) Mutations: Most pathogenic genetic variants identified in autistic individuals occur by chance as new mutations rather than being inherited from parents.Rare Inherited Variants: SPARK researchers discovered a novel class of moderate-effect genes driven by rare inherited "loss of function" variants. Parents passing these down typically do not have autism or cognitive differences.Predictive Physical Features: Autistic people with certain physical or medical traits are two to five times more likely to have an identifiable genetic cause. These features include motor or cognitive delays, unusually small or large head sizes, short height, and seizure disorders.Sex Differences: SPARK data supports the observation that autistic girls and women are significantly more likely than boys and men to carry a major identifiable genetic variant linked to their diagnosis.Whole-Genome Sequencing Shift: SPARK has transitioned from analyzing just protein-coding regions (exome sequencing) to whole-genome sequencing to understand how non-coding DNA influences autism risk

Genetic Mutations Implicated in Autism Alter Early Brain...

BBRFoundation.org
https://www.bbrfoundation.org
New results published in Nature from a team co-led by researchers who have received BBRF grant support mark an important step forward in the decades-long effort to connect genetic risk factors for autism spectrum

What Has Genetic Testing of Autistic People Revealed?

Spark Autism Research
https://sparkforautism.org › ... › Category: ASD
Oct 3, 2024 — SPARK found genetic variations that cause autism in 1,861 autistic children and adults, almost 9 percent of those who submitted saliva samples

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September 21

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