A recent international study published in Molecular Psychiatry has identified new genetic variants associated with autism and developmental delays.
This discovery adds to the growing list of genetic factors linked to neurodevelopmental disorders, providing hope for better understanding and diagnosing these conditions in the future.
The study focused on variants in the GSK3B gene, which had not been well-understood previously. Researchers found that individuals with GSK3B variants shared common symptoms, including developmental delays, autism, sleep disturbances, and behavioral challenges.
These findings offer new insights into the genetic underpinnings of autism and may help families seeking answers about their children’s conditions.
Sarah Jurgensmeyer, a lecturer and genetic counselor at Northwestern University and a co-author of the study, explained how the discovery unfolded.
After encountering a patient with a genetic variant in the GSK3B gene, Jurgensmeyer used a platform called GeneMatcher to connect with other researchers interested in studying rare or little-known genetic variants. This collaboration allowed scientists to gather and analyze data on 15 individuals with GSK3B variants.
The researchers examined the genetic makeup (genotype) and physical and behavioral characteristics (phenotype) of the study participants. By comparing their findings across these individuals, the team identified similarities in symptoms, which pointed to a shared underlying genetic cause.
To understand the role of GSK3B in brain development, the scientists turned to animal models. Using single-cell transcriptomic data, they found that the GSK3B gene is particularly active in excitatory neurons in the developing brain.
When the gene was inhibited in mice, normal brain development was disrupted, resulting in features similar to autism. This experiment further supported the connection between GSK3B variants and neurodevelopmental disorders.
These findings are significant for several reasons. First, they expand the list of known genetic contributors to autism and developmental delays, offering more clarity for families with affected children.
According to Jurgensmeyer, “The next time someone is found to have a variant in this gene, there will be more data out there to reduce uncertainty for that patient and their family.” This can help guide genetic diagnoses and provide families with clearer expectations about their child’s condition.
Second, understanding the role of GSK3B could lead to better management of symptoms for individuals with these variants. While this research is still in its early stages, it could eventually inform treatment strategies or interventions tailored to specific genetic profiles.
Finally, the study demonstrates the importance of collaboration in genetic research. Platforms like GeneMatcher enable scientists and clinicians from around the world to pool knowledge and resources, accelerating discoveries about rare genetic conditions.
This collaborative approach is especially valuable for conditions like autism, which involve complex genetic and environmental factors.
While the study marks a small step in the broader effort to understand autism’s genetic basis, it represents meaningful progress. Each new gene discovered helps build a clearer picture of the mechanisms underlying neurodevelopmental disorders. For families affected by these conditions, even small discoveries can provide a sense of clarity and direction.
Jurgensmeyer expressed optimism about the future of genetic research in this field. “We have come so far in terms of our understanding of the genetics of some neurodevelopmental diagnoses,” she said. “I’m always happy anytime that we can help provide more answers to the families we get to work with every day.”
This research highlights the ongoing need for studies into genetic factors that contribute to autism and developmental delays. By continuing to investigate and share findings, scientists can work toward more accurate diagnoses, better treatment options, and improved support for individuals and their families.
If you care about autism, please read studies that cats may help decrease anxiety for kids with autism and new study may develop better treatment for autism
For more information about health, please see recent studies about how to eat your way to a healthy brain, and results showing this type of food may contribute to autism.
The research findings can be found in Molecular Psychiatry.
Copyright © 2025 Knowridge Science Report. All rights reserved.
