Health · Medical Research · 5 hrs ago
Study finds overlooked DNA sequences that may help explain autism
A team led by researchers at the University of Toronto and Memorial Sloan Kettering Cancer Center studied tiny DNA fragments called microexons that help cells make different versions of proteins.
Nerve cells use these fragments more than other cells, and earlier work found they are often used incorrectly in autistic people.
By scanning large collections of genetic data, the team identified 1,514 previously unlisted human microexons, including 292 used differently in nerve cells.
The researchers also trained a computer model to predict which nearby DNA sequences affect whether nerve cells use these fragments.
They used the model to examine genetic changes found in autistic people, building on the fact that current genetic tests identify a cause in only about 15 percent of cases.
The results may point to overlooked genetic clues, but they are computer predictions and no clinical test is available yet.
A study identified overlooked DNA sequences that may help explain autism and could be missed by conventional genetic testing.
The researchers found 1,514 previously uncatalogued human microexons, tiny gene fragments that can affect how cells make proteins.
A computer model examined nearby DNA sequences to predict which microexons neurons use.
The findings are computer predictions checked against family genomes, and no clinical test is available yet.
- Who
- Researchers co-led by Benjamin Blencowe of the University of Toronto’s Donnelly Centre and Quaid Morris of Memorial Sloan Kettering Cancer Center.
- What
- A study identified overlooked DNA sequences and examined how genetic changes could affect microexon use in neurons.
- When
- The article was published on 2026-11-02.
- Where
- The researchers worked at institutions including the University of Toronto and Memorial Sloan Kettering Cancer Center; the study also analyzed human tissue and cortex data.
- Why
- To investigate genetic clues that may help explain autism and are missed by conventional testing.
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- New human microexons
- 1,514 previously uncatalogued
- Neuronal microexons
- 292 used differently in nerve cells than elsewhere
- Human tissue data
- 4,790 samples
- Cortex data
- 47,380 single nuclei
- Public data scanned
- More than 100 terabytes
What people are saying
What surprised me was that the sequences the model identified as important closely matched those conserved throughout vertebrate evolution.