A landmark study that uses brain organoids from different people with different genes associated with autism showed that the different genes act as roads that go on different journeys to the same destination. This will be an enormously important discovery for identifying targets to treat different autism symptoms across different genetic causes of autism and understand the diversity of symptoms. Also, the new Interagency Autism Coordinating Committee was announced and there is not much breadth of perspectives.
On this week’s podcast, we present new research summarizing how autism is part of a larger spectrum of neuropsychiatric disorders and issues. There are issues that people with autism experience that are not unique to autism; they are seen in people with ADHD, schizophrenia, bipolar disorder and depression. This is what is meant by “transdiagnostic”. These things include core autism features, co-morbid health problems, and can partially be explained by genetics. While autism is a unique condition, understanding how autism is placed in the wider spectrum of disorders and conditions will speed up discoveries in treatments and supports.
This year was a VERY eventful year for autism. If you want to hear a highlight of the good news, the great science that was discovered and the ideas developed to help families with autism, listen to this podcast or read the summary here: https://autismsciencefoundation.org/2025-year-in-review/. In summary: more precise subtypes of autism have been discovered and validated using biological markers, explanation for sex differences, new precision medicines for those with known genetic causes of autism, and new research studying the effects of early intervention. It was a great year for science, even with all the challenges from DOGE.
This week, a new study suggests a causal link not between Tylenol, but to COVID, which can cause a fever. There is clearly more research needed, but the findings are consistent with research on the link between maternal illness and autism. Also, it’s well known that genetics plays a role in how symptoms of autism emerge and present. Can genetics also explain why some people are diagnosed later? What about cannabis exposure during pregnancy? Is it a factor in a later diagnosis? For more information, listen to this week’s ASF podcast.
The National Institutes of Health just awarded $50million to 13 different research sites to better understand genetic and environmental contributions to an autism diagnosis, or increase in prevalence in autism, as well as environmental factors which improve the quality of life for children and adults with ASD.
You can read about them here or listen to this 30 minute podcast which summarizes them.
In an effort to better understand the causes of autism in those with a known genetic variant associated with ASD or other developmental disorders, in 2010, the Simons Foundation launched Simons VIP, now known as Simons Searchlight – an online international research program studying nearly 200 rare genetic neurodevelopmental disorders and working with over 60 patient advocacy groups across these conditions.
Since its inception, it has grown to not just study specific genes, but to provide de-identified aggregate data to researchers & industry, support for patient advocacy groups to bring together families & researchers (thanks to the generosity of the Simons Foundation), identify even more genes associated with autism, and create international communities.
These communities share similar underlying mechanisms even though there are sixty genes represented within Simons Searchlight. This week is a conversation with the principal investigator of Simons Searchlight, Dr. Wendy Chung, talks about why genes associated with autism and other neurodevelopmental disorders are so important to study, what the scientific community has learned, and how Patient Advocacy Groups have grown and flourished as a result of this understanding.
If you are having problems accessing a genetic test, here are some tips
This week’s podcast includes summaries from two new scientific studies (with comments from one of the studies’ authors @SimonsFoundation and @princetonPPH) about that tackle grouping and labeling the differences across the spectrum into meaningful subtypes. Both provide scientific evidence, including behavioral and biological data, that support the use of different labels. This is more evidence that lumping everyone into one unitary “autism” diagnosis is not meaningful or biologically accurate, and that using computer-driven approaches, different behavioral subtypes map onto behavioral features. This supports approaches that more clearly describe different types of autism for better supports.
Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is, how it works, how it is used and what is monitored during these treatments.
This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast provides a short summary of just some of the science presented. Michael Lombardo provided a keynote that included data from his research included on this podcast: https://blubrry.com/asfpodcast/137452290/factors-that-influence-heterogeity-and-how/
If you would like a copy of the INSAR program book, email me at ahalladay@autismsciencefoundation.org. Sorry, it’s too large to attach in the summary!
Today’s #ASFpodcast explains the potential and the unknowns behind folate, known as leucovorin when prescribe, for treating autism. CBSNews reported on a “miraculous” study using leucovorin that will need further research before it lives up to the type. However, it is an example of how different biological markers may direct what treatments work best in what people, and possibly an example of precision medicine in ASD. Second, more of the mystery of the male/female diagnosis difference in ASD. How do genetics affect liability in males and females? It’s been well established females have more of a certain type of genetic variation, but females are less likely to be diagnosis. New results show that the liability for autism is the same in males and females (both are just as likely to receive a diagnosis based on their genetics), however these two sexes may have a different threshold for an autism diagnosis. Females may need more of these mutations to receive an autism diagnosis. Read more below:
