Research for the end of Autism Action Month

In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/

https://www.nature.com/articles/s41586-024-07310-6

2020: These are the days we’ll remember

This week’s podcast is the Year End Summary of scientific discoveries in 2020. Guess what leads these highlights? That’s right! The COVID-19 pandemic and the Black Lives Matter movement. Even though these events significantly affected the lives of people with autism, and will heavily influence future research directions, there were actually other important research discoveries which impact families. These include: early detection and biomarkers of ASD, different subgroups of ASD, treatments and interventions, sex differences and technological advances to study autism on a molecular level. The full transcript will be posted on the ASF website soon. Enjoy.

Environmental factors: the forgotten stepchild of autism spectrum disorders

When people hear the word “heritability” in mathematical estimates, they automatically think “just genetics”.  That isn’t true, and this week epidemiologist Brian Lee from Drexel talks us through his SpectrumNews viewpoint about what heritability actually is and why there is room for environment.  Also this week, twin studies, which have traditionally used the word heritability to distinguish genetic vs. environmental interactions, are studied in a new light.  This one shows that severity and differences of autism across the spectrum in identical twins are caused by environmental differences – not just genetics.

https://www.ncbi.nlm.nih.gov/pubmed/31853901

The 2019 Year End Summary

What more appropriate podcast to end 2019 with than the summary of advances of scientific research of autism spectrum disorders?   The SAB of ASF and the CSO categorized the highlights in science into 8 categories which are outlined in this 30 minute podcast.  You can also read them on the ASF website here.  Thank you for listening to the ASF Weekly Science Podcast in 2019, and talk to you in 2020!

Genes, environment and heritability: why does it matter?

This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families.  What it did not do was calculate the role of gene x environment interactions which seems to be the forgotten stepchild of autism research.  This week’s #ASFpodcast explains why it is important to understand the heritability while at the same time study the combined effects of genetic and environmental factors.

https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2737582?guestAccessKey=d82b0145-f179-48bd-91bb-f77865732c3c&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=071719