Autism Science Foundation Weekly Science Report

This week we talk to Dr. Dan Geschwind from UCLA who was funded by the Autism Data Science Initiative to study thousands of environmental chemicals and medicines across various genetic backgrounds. A decade ago, this study would have taken a decade, but through new technology, robotics, and existing knowledge about genes and these chemicals, it is automated and can be done is 3 years. Dr. Geschwind will explain how he is using cells from people with autism to identify potential environmental factors that may contribute to a diagnosis of autism, or exacerbate or aleviate symptoms of autism and developmental disorders. This is incredibly cool – have a listen to what this ADSI project is doing and what it can tell scientists about what is important to focus on in autism.

Autism does not start at one, two or three years. It is a condition with trajectories, where some individuals show signs early, others later. It doesn’t just happen after some mysterious “medical event”, people are born with it. Scientists know this by tracking outcomes of those with a high likelihood of autism all the way from birth to school age.

We need more research on why features do not show up the same in each person, and how you can predict not just an autism diagnosis but other co-occurring conditions that are common in autism. Finally, science on how to best support each person with autism across their lifespan must continue, not stop. @UCL and @KCL are conducting just that type of research – that understands that features of autism change over time, emerge at different ages and also are accompanied by different biological features. This week we talk to Tony Charman, Tessel Bazelmans, Emily Jones and Mark Johnson who are pioneers in understanding how autism features emerge and change over time, but start in early infancy.

https://pubmed.ncbi.nlm.nih.gov/42640439

https://pubmed.ncbi.nlm.nih.gov/42410708

This week we talk to Drs. Steve Scherer, Lisa Bradley and Graham Collingridge who recently published research that shows the gene PTCHD1-AS influences social functioning in humans and mice, without influencing intellectual deficits. This is the newest data that shows a single gene can control social communication and not some of the other comorbid features of ASD. They review the data around genetic influences in autism, why the knowledge of the role of genes in autism has exploded in the past decade, evidence that specific genes lead to an autism diagnosis, and more specifically, what this gene does in the brain and why it took so long to identify it.

Here is the article: open access! https://www.nature.com/articles/s41586-026-10515-6

Need a genetic test? Here are some resources:

www.startgenetic.com

Genetic Testing

This week’s podcast features beloved UCLA child neurologist Dr. Rujuta Wilson who helps families with autism and other neurological conditions, both with and without a known genetic condition. We discuss the overlap of motor disability with autism spectrum disorder, what we know, what we need to know and what research families can participate in to help solve these questions. Dr. Wilson also explains some common terms in motor abilities or disabilities and how recreational activities can enhance evidence-based therapies to improve motor function, and of course give joy to those participating.

The PROMISE Study_approvedDownload

Wong.Wilson.sibs.motorDownload

survey.CN.wilsonDownload

Happy Pride! In honor of June, this week’s podcast focuses on the specific needs of those who are transgender or sexually diverse and also autistic. What is the prevalence of autism in those who are transgender and what is the prevalence of being transgender in those who are autistic? New research has emerged which shows that mental and physical health problems are more prevalent in those with an autism diagnosis and transgender compared to those who are not autistic and transgender. What can we learn about sex differences in diagnoses of males and females through studying those who are also transgender? Also, Laura Graham Holmes who authored one of the studies comments on the importance of her research.

Click to access 10.1177_07067437261442432.pdf

https://onlinelibrary.wiley.com/doi/10.1002/aur.70235

https://pubmed.ncbi.nlm.nih.gov/41614651

https://www.nature.com/articles/s41467-020-17794-1

https://pubmed.ncbi.nlm.nih.gov/41533668