common variation – ASF Weekly Science Podcasts

August 13, 2023August 13, 2023

Suicide, self-harm and genetics in autism

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This week’s podcast covers two new papers of interest to the autism community. First, another study showing increase in self harm and suicide in those with autism – no new news there – but a new discovery this week showed a vulnerability of females with a diagnosis. The study also explores the lower rate of suicide in those with IDD but higher rate of self harm in this same group. Second, the mystery of autism genetics is slowly unveiled. Why is rare variation so influential in an autism diagnosis? As it turns out those with rare variation also have common variation, piling on the genetic liability in this group. Common variation is also uniquely linked to language delay in autism, so is this a core feature? Links below are the scientific articles as well as resources to support those dealing with mental health problems in the autistic community.

Mental health links:

https://vkc.vumc.org/assets/files/resources/mental-health-toolkit.pdf

https://www.camh.ca/-/media/files/cundill-centre/depression-and-autism-full-pdf.pdf

https://www.yorku.ca/health/lab/ddmh/wp-content/uploads/sites/407/2021/04/Mental-Health-Literacy-Guide-for-Autism_Section-9.pdf

https://www.azrieli-anc.com/autism-mental-health https://www.autism.org.uk/advice-and-guidance/topics/mental-health/suicide#How%20do%20I%20get%20help%20and%20support

Articles:

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2808056

Genetics study is OPEN ACCESS: https://www.pnas.org/doi/abs/10.1073/pnas.2215632120?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed

November 7, 2021November 7, 2021

Rare and common genetic variation in autism

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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.

May 22, 2017May 22, 2017

A new understanding of autism genetics

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Lots of people tend to think of the genetics of disorders or disease about one mutation or genetic variation that is inherited from the mother or the father, that causes a trait directly. Unfortunately, the genetics of autism isn’t that simple or scientists would have found “the gene” by now. In fact, there are different types of genetic influences in autism. A new study in Nature Genetics led by Elise Robinson shows how common variation influences autism risk, as well as intellectual function in autism, compared to de novo mutations. There is a short primer at the beginning of the podcast about old-school genetic thinking and why it doesn’t apply to ASD. Below is the picture mentioned.