Posted on

What is the problem getting to the bottom of biomarkers and gene x environment interactions

Podcast: Play in new window | Download

Subscribe: RSS

Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

Posted on

Autism means different things to different people

Podcast: Play in new window | Download

Subscribe: RSS

At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. This is just a small subset of everything that was presented at #INSAR2022 and I hope that if you want to see more, you advocate to have the presentations posted online or even have the program book made available publicly. In the meantime, enjoy the 30 minute summary.

www.autism-insar.org

Posted on

Can animals be autistic?

Podcast: Play in new window | Download

Subscribe: RSS

The answer is obviously “no”, however, animal models are necessary to help understand brain circuitry and improve interventions and supports for not just core symptoms but associated issues like anxiety, OCD, seizures and GI issues. Scientists view behaviors consistent with an ASD diagnosis differently, and this has created some problems in interpretation of animal model data. This week’s #ASFpodcast will break down a recent paper in Genes, Brain and Behavior which addresses inconsistencies in the literature and makes recommendations on how researchers should shift how they think about how they can replicate features of ASD in a model system.

https://pubmed.ncbi.nlm.nih.gov/35285132/

Posted on

What I like about you.

Podcast: Play in new window | Download

Subscribe: RSS

This week is a “brick-a-brack”: of topics. They include: 1. how COVID-19 is especially dangerous for people with neurodevelopmental disorders; 2. how certain genes associated with neurodevelopmental disorders can affect other body functions other than the brain (like the digestive system and kidney function and metabolism); and finally, 3. why parents think their autistic children are so great. No overall theme, just information we hope you can use.

https://www.ijidonline.com/action/showPdf?pii=S1201-9712%2822%2900048-0

https://link.springer.com/content/pdf/10.1007/s10803-021-05405-x.pdf

https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2788262

Posted on

Rare and common genetic variation in autism

Podcast: Play in new window | Download

Subscribe: RSS

Two weeks ago the topic was gene x environment interactions. But some genetic variants, including rare genetic variants, can exert huge influence on a diagnosis by themselves. New data from genetic samples that have been sequenced are showing an increase in the number of these genes and the role of these genes, and how they work with common variants. What are rare and common variants? How do they influence a genetic diagnosis? And what does this mean for the future of genetics in ASD? Listen to Dr. Behrang Mahjani at Mt. Sinai School of Medicine who authored two recent publications on the topic.

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/

Posted on

A genetic first approach to subtypes?

Podcast: Play in new window | Download

Subscribe: RSS

What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference in genetic makeup. The full webinar with video can be found here but you can listen to the presentation this week. There will also be more research on this topic.

Posted on

Ribbit…Ribbit… frogs are the new mouse of ASD research

Podcast: Play in new window | Download

Subscribe: RSS

You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

Posted on

A new type of genetic mutation in ASD

Podcast: Play in new window | Download

Subscribe: RSS

On today’s ASF podcast, ASF funded researcher Ileena Mitra from the lab of Dr. Melissa Gymrek at UCSD will explain a new type of “de novo” genetic mutation. Those are those spontaneous mutation that happen in kids with ASD but not parents or family members. So where did they come from? Well, this study looks at a mutation that affects tandem repeats, which are those repeating DNA sequences: CGG CGG CGG CGG. A newly built bioinformatics platform showed that these mutations may account for 1.6% of simplex (one person in the family is affected). Likely we are going to hear more about these types of mutations in ASD, so listen to the scientist explain the science herself!

https://www.nature.com/articles/s41586-020-03078-7

Posted on

What is the point of genetic testing?

Podcast: Play in new window | Download

Subscribe: RSS

If only 10% of people with ASD have a known genetic mutation associated with autism, what is the point? Why bother? This week we discuss why it is important for that 10%, what the benefits are, and how genetic testing may help the other 90% as well.

https://www.sciencedirect.com/science/article/pii/S0002929720301130

https://pediatrics.aappublications.org/content/146/4/e20193211

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/