Autism Science Foundation Weekly Science Report

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

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

In all the recent hype on the “overprescribing” of psychiatric medications, there is a circulating rumor antidepressant use in the mother during pregnancy has could be linked to an autism diagnosis in the child. Thankfully, there is research on this topic, and the results are clear: antidepressant exposure during pregnancy does not cause autism in children. Where would this idea come from? Early studies did show a weak link, but the association arises because there is a genetic link between having a psychiatric disorder like anxiety and stress and autism. Don’t stop taking your meds unless you discuss it with your doctor. References below: https://pubmed.ncbi.nlm.nih.gov/42134364 https://pubmed.ncbi.nlm.nih.gov/42088678/ https://pubmed.ncbi.nlm.nih.gov/42168841/

SPARK – neuroscience, known to autism researchers as the other “SPARK”, is a project based out of Stanford University. This project does not collect genetics on hundreds of thousands of people, instead, they that provide funding, advice, support, mentorship, coaching and project management to scientists who have some evidence of a target in the brain relevant to autism. They help these scientists turn it into a potential drug or therapeutic that can help families. This is known as “translational research” and part of the “Valley of Death” where so many good drugs fail. This is a high-risk/high-reward endeavor. They are currently focused on therapeutics that target the functioning of the brain in autism and Parkinson’s Disease. Today’s guest is Dr. Opher Kornfeld, managing director of SPARK NS and neuroscientist. He explains how SPARK NS started, what they do, and how they have been successful helping scientists develop an idea into a potential product. https://sparkns.org

This week’s ASF weekly science podcast features Dr. David Amaral, who directs the Autism BrainNet. The Autism BrainNet is a program that organizes the collection of post-mortem brain tissue and then distributes it to autism researchers worldwide to better understand the brains of people with autism. He discusses major scientific discoveries about the mechanisms of … Continue reading "The Science of Autism BrainNet"

The NIH has launched the new Autism Data Science Initiative: https://dpcpsi.nih.gov/autism-data-science-initiative/funding-opportunities#section1, which brings questions about why linking different data sets is important. It can be done without including personal identifying information, and it should be done following ethical guidelines. If done correctly, using large datasets can answer questions relating to treatment, cause, better identification and … Continue reading "What we learn from linking data"

With the International Society for Autism Research underway and a new wave of misunderstanding about scientific evidence in autism, it’s time to think about what is science, how is it conducted, and why does it take so long? Who benefits from science and how? This is just the start, but gives a quick overview of … Continue reading "Why science?"

The past couple of weeks have been a flurry of decisions involving government funding for research and health and wellness services. It’s been difficult to understand their impact without understanding the process in which science is evaluated for funding and policies around support of universities where the research takes place. In this podcast, we will … Continue reading "An Explanation of Some of the Recent Scientific Research Announcements"

Despite many years fighting it, families with autism still experience societal stigma. The experiences depend on many factors, summarized in the October 21st podcast. This week, Mia Kotikovski explores cultural factors involved in stigma. As examples, she explores the literature from Asia, the Middle East and the United Kingdom, how they are different, and how … Continue reading "Stigma experienced around the world"