New Autism Genes Discovered

October 5, 2022 by Dan McCue
New Autism Genes Discovered
Jake Michaelson, PhD, associate professor of psychiatry in the UI Carver College of Medicine

IOWA CITY, Iowa – A multi-institutional research team, using genetic data from nearly 43,000 autistic individuals and their families, has identified 60 autism spectrum-associated genes with exome-wide significance, including five new genes not previously implicated in neurodevelopmental disorders.  

The results of their work were published in the journal Nature Genetics.

Previous studies involving millions of people have already shown that autism is mostly heritable, but those studies stopped short of identifying specific genes and mechanisms involved in autism. 

Other research that has identified specific genes strongly associated with autism has focused on new or “de novo” mutations found in the genome of a child with autism but not inherited from their parents’ genome. 

These de novo mutations are usually also associated with intellectual disability. However, most autistic individuals do not have this type of mutation, so they only represent a small part of the genetic picture.  

In contrast, the new study focused on rare genetic variations that are inherited by the child with autism from a parent who does not have autism.

“We found that these inherited variants are less associated with intellectual disability, and they expand our view of what developmental mechanisms are being impacted in autism,” said Jake Michaelson, Ph.D., associate professor of psychiatry at the University of Iowa Carver College of Medicine.

Michaelson led a team of University of Iowa scientists who contributed to the new study.

“Ultimately this knowledge will help us better understand subtypes of autism that each have different support, resource, and treatment needs,” he said.

The multi-institutional research team led by scientists at Columbia University Medical Center analyzed 19,843 participants with autism, along with one or both of their biological parents, and found that roughly 20% of people with autism have de novo genetic variants that affect the function of the associated gene. 

Nearly 70% of this genetic contribution can be attributed to known autism or neurodevelopmental disorder genes. However, this means that although known autism-associated genes are responsible for the majority of risk related to de novo variants, there are others still to be identified.

The researchers then added in another 22,764 individuals with autism and 236,000 people without autism from the general population.

In this meta-analysis, they identified 60 autism genes whose contribution to autism is largely driven by rare inherited loss of function variants transmitted by parents who do not have cognitive differences or autism. Of these genes, five have not previously been implicated in neurodevelopmental conditions.  

Individuals with autism who carry inherited variants in these “moderate effect” genes are less likely to have cognitive differences than people with autism who carry LOF variants in well-established autism genes, such as CHD8 and SCN2A.

“We are essentially making a map of autism genetics that tells us what the major molecular mechanisms are,” Michaelson explains. “It feels sort of like a Lewis and Clark-type expedition, where you know there’s this huge (unexplored) territory, but its contours and variety haven’t yet been well described.”

Dan can be reached at [email protected] and at https://twitter.com/DanMcCue.

A+
a-
  • autism
  • Columbia University Medical Center
  • genes
  • Research
  • University of Iowa
  • In The News

    Health

    Voting

    Health

    December 8, 2023
    by Dan McCue
    FDA Approves a CRISPR-Based Medicine to Treat Sickle Cell Disease

    WASHINGTON — The Food and Drug Administration on Friday approved the world’s first medicine based on CRISPR gene-editing technology for... Read More

    WASHINGTON — The Food and Drug Administration on Friday approved the world’s first medicine based on CRISPR gene-editing technology for the treatment of sickle cell disease. The new treatment, called Casgevy, was manufactured by Vertex Pharmaceuticals, of Boston, Massachusetts, and CRISPR Therapeutics, of Switzerland, using a... Read More

    Chronic Fatigue Syndrome More Common Than Past Studies Suggest, CDC Says

    NEW YORK (AP) — Health officials on Friday released the first nationally representative estimate of how many U.S. adults have... Read More

    NEW YORK (AP) — Health officials on Friday released the first nationally representative estimate of how many U.S. adults have chronic fatigue syndrome: 3.3 million. The Centers for Disease Control and Prevention's number is larger than previous studies have suggested, and is likely boosted by some... Read More

    December 8, 2023
    by Tom Ramstack
    White House Threatens to Penalize Pharma Companies for High Prices

    WASHINGTON — The Biden administration announced a plan Thursday to lower prescription drug costs in a move that takes a... Read More

    WASHINGTON — The Biden administration announced a plan Thursday to lower prescription drug costs in a move that takes a tough stance toward pharmaceutical companies charging high prices. If the Federal Trade Commission determines the prices are unreasonable, the new policy allows the federal government to... Read More

    December 6, 2023
    by Dan McCue
    House Unanimously Passes Bill to Increase Mental Health Resources for Veterans’ Caregivers

    WASHINGTON — The House on Monday unanimously passed the Caregiver Outreach and Program Enhancement Act, which would increase mental health... Read More

    WASHINGTON — The House on Monday unanimously passed the Caregiver Outreach and Program Enhancement Act, which would increase mental health resources available to caregivers of America’s veteran population. Alternately known as the COPE Act, the bipartisan legislation sponsored by Reps. Chrissy Houlahan, D-Pa., and Jen Kiggans,... Read More

    December 6, 2023
    by Dan McCue
    HHS Unveils Next Steps to Enhance Cybersecurity of Health Care Records

    WASHINGTON — The bad guys in cyberspace want your health care records.  Between 2018 and 2022, there was a 93%... Read More

    WASHINGTON — The bad guys in cyberspace want your health care records.  Between 2018 and 2022, there was a 93% increase in large breaches in the health care sector, with a 278% increase in large breaches involving ransomware, according to the Department of Health and Human... Read More

    December 6, 2023
    by Dan McCue
    New Report Sheds Some Light on Rare Post-COVID Shot Syndrome

    NEW HAVEN, Conn. — A study from the Yale School of Medicine sheds some new light on the rare, but... Read More

    NEW HAVEN, Conn. — A study from the Yale School of Medicine sheds some new light on the rare, but chronic and debilitating condition some people report experiencing after getting a COVID-19 vaccination. The paper, which was posted on the preprint server medRxiv and has not... Read More

    News From The Well
    scroll top