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.

How do you know an intervention is working? It starts with making sure you are measuring the right thing. This week, Drs. Mary Wojnaroski from Nationwide Children’s Hospital and Natasha Ludwig from the Kennedy Krieger Institute who work on the Inchstone Project to talk about outcome measures around intellectual function and cognition. Some tools might be used to measure both strengths and weaknesses in those with intellectual disability. But first, clinicians need to know what impacts families the most. What skills are most important to help their children leave fulfilling lives? YOU can be a part of this work! The Inchstone Project is launching a new survey for families of those with IDD or seizures or global developmental delay. This important survey to a wide group of caregivers asks what are the biggest priorities in an intervention study and what makes the most difference to them. TAKE THE SURVEY HERE: https://inchstoneproject.org/pss2/

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

Traditionally, scientists have been able to calculate the role of genes in autism, or the environment in autism. However, understanding the role of genes together with the environment, or the effects of the environment with a genetic background, has been very difficult. This is especially true with polygenic genetic risk factors, which is not a single gene but a combination of multiple genetic influences. Different environmental factors might be good candidates for testing because some of them are more accurately measured than others. This week, we talk to Drs. Nilanjan Chatterjee and Christine Ladd Acosta both from Johns Hopkins University, who have tested and validated a new method to calculate the risk of not just genetics, or the environment but the two working together. They describe some of the factors they studied and why, and how this model can be used for further research questions. https://pubmed.ncbi.nlm.nih.gov/42230772