Tag: Steve Scherer

Posted on

What is the evidence that autism is genetic?

Podcast: Play in new window | Download

Subscribe: RSS

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
Posted on

Contemplating “syndromic autism”

Podcast: Play in new window | Download

Subscribe: RSS

The words “syndromic autism” have been used to describe individuals with autism who also have a rare genetic mutation. Is it time to change those words to something else? Scientists and clinicians Drs. Jacob Vorstman and Steve Scherer from the University of Toronto share recent data in understanding autism, the role of genetic testing in autism in predicting and treating other conditions that someone with autism may have, and why the words “syndromic autism” may need to be updated to describe a subgroup of autism.

https://pubmed.ncbi.nlm.nih.gov/37330697/

Below is the Figure 1 that Dr. Scherer refers to:

Posted on

What causes autism? Genetics or the Environment? Or maybe both?

Podcast: Play in new window | Download

Subscribe: RSS

Is it genes or is it the environment? or is it a combination? This question has plagued researchers and scientists and caused a lot of confusion in families about what caused their own or their child’s ASD. This week we review the mechanisms by which de-novo mutations could be the work of gene x environment interactions, and share new evidence of how SSRI’s do or don’t contribute to ASD through gene x environment interactions. We also want to recognize the valuable work of scientist Li-Ching Lee to these efforts. Dr. Lee recently passed away but will be sorely missed.

https://pubmed.ncbi.nlm.nih.gov/34002022/

https://pubmed.ncbi.nlm.nih.gov/34116791/