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The newest most advanced way to study gene x environment interactions

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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.

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Clinical Trials – what you need to know about outcome measures

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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/

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How to capture the real onset patterns of autism

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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

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What is the evidence that autism is genetic?

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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
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Calculating a gene x environment interaction in autism

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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

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Mysteries of Motor Abilities in Autism

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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
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What can understanding autistic transgender individuals tell us about sex differences in ASD?

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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

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Autism and disorders of aging

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We have talked already about the link between autism and dementia, however a lesser known association is the one between autism and another disorder of aging: Parkinson’s Disease. A recent presentation at INSAR revealed what is known about the relationship, why they are related, what causes the association and what people with autism can do to possibly mitigate the onset of dementia and Parkinson’s Disease. Thank you to Dr. Blair Braden and Samantha Harker and Manuela Velez Galindo from the Autism and Brain Aging Lab at Arizona State University (@autismbrainaginglab @asuresearch) for joining this podcast and explaining the findings so far and what they mean for individuals and families with autism.

https://pubmed.ncbi.nlm.nih.gov/25911091

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Antidepressants do not cause autism

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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/

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Lost in translation: SPARK NS helps scientists with a good idea turn it into therapies for families

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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