Twitter buzzed with talk about exciting autism-related research in 2022. Here we take a look back at some of the year’s top tweets.
Geneticists continued to make important contributions to the field. Consider, for example, the study in Nature Genetics in October that told a “story of unexpected convergence at 16p, a region of long-standing mystery in autism research,” tweeted study investigator Dan Weiner, a graduate student in Elise Robinson’s lab at Harvard University.
Both common and rare genetic variants are relevant for autism.
But are they biologically convergent?
Today in @NatureGenet, we share a new method + story of unexpected convergence at 16p, a region of long-standing mystery in autism research:https://t.co/PngO34qYVy
???? (1/14)
— Dan Weiner (@danweiner92) October 24, 2022
The short arm of chromosome 16, which is home to several rare, autism-linked copy number variations, also harbors “the greatest excess of autism’s common polygenic influences,” Weiner and his colleagues found.
Both rare and common variants across 16p “converge on decreased gene expression” in the region, “facilitated by 3D genome architecture,” Weiner wrote. Spectrum covered the study earlier this month.
In summary:
Hypothesized a model of ASD liability arising from 16p:
Distinct genetic risk factors – common 16p ASD PRS / rare 16p11.2 CNV – converge on decreased gene expression in region of increased brain relevance, facilitated by 3D genome architecture (10/14) pic.twitter.com/HXqqz2Zo8X
— Dan Weiner (@danweiner92) March 24, 2022
Functional overlap featured prominently in another study, which “used proteomics to screen 41 autism risk genes, finding convergence between the genes,” tweeted Karun Singh, associate professor of biochemistry and biomedical sciences at McMaster University in Hamilton, Canada.
Sharing a study led by Dr. Nadeem Murtaza @Nadeem_M13. He used proteomics to screen 41 autism risk genes, finding convergence between the genes. Congrats to co-authors, and thank you to our long-standing collaborators. @UHN_Research @LMP_UofT https://t.co/LBjxSWA67C
— Karun K Singh (@karunsinghneuro) November 22, 2022
The “impressive” work suggests that “mitochondria are a common feature,” tweeted Julien Courchet, a researcher at Institut NeuroMyoGène in Lyon, France.
Very impressive paper now out in @CellReports on protein-protein interaction networks for 41 autism linked proteins showing (among many other things!) that #mitochondria are a common feature. Congrats to the authors https://t.co/JV1gYXRUr6
— Julien Courchet (@JCourchet) November 23, 2022
More common ground shows up among 10 percent of the genes strongly linked to autism and related conditions: Mutations in these genes disrupt interneuron development, according to a study shared by Sergiu Pasca, professor of psychiatry and behavioral sciences at Stanford University in California. Spectrum covered the study in November. Pasca and his colleagues used “a bold approach … to map 425 genes on interneuron dev stages” in a preprint.
Hundreds of genes have been associated with autism & neurodev disorders
But how do these genes impact specific stages in human development?
In a new preprint, @XianglingM took a bold approach & developed CRISPR screens in #assembloids to map 425 genes on interneuron dev stages ???? pic.twitter.com/TFt1Og1ow8— Sergiu P. Pasca (@Sergiu_P_Pasca) September 8, 2022
Aging in autism was another topic of conversation on social media this year. A question at the heart of autism research, says Liz Pellicano, professor of autism research at University College London in the United Kingdom, should be “How can autistic adults thrive?”
How can autistic adults thrive? This should be one of the questions at the heart of autism research. Excited to have examined it with an amazing team of autistic and non-autistic co-authors. You can read it here (should be free to access): https://t.co/bVHADH2HYb
— Liz Pellicano (@liz_pellicano) September 5, 2022
Pellicano shared a link to her review paper, co-authored by a team of autistic and non-autistic researchers, proposing that research on autism in adulthood apply a “capabilities approach,” which focuses on 10 core elements of a thriving human life. “This approach enables us to evaluate the opportunities and challenges facing autistic adults, the forces shaping them and the ways in which services and other interventions might enhance the quality of their lives,” the team wrote.
Pellicano’s wasn’t the only new approach for autism researchers touted on Twitter this past year. These next tweets from 2022 introduced several other novel methods.
A new toolbox to contextualize human brain maps, called neuromaps, is akin to a “GoogleMaps for the brain!” tweeted Bratislav Misic, associate professor and Canada research chair of the Network Neuroscience Lab at McGill University in Montreal, Canada. Spectrum covered neuromaps in November.
neuromaps: structural and functional interpretation of brain maps | https://t.co/8ojYaKmd57
GoogleMaps for the brain!
By @rossdavism @JustineYHansen out now in @naturemethods ????????⤵️ pic.twitter.com/C0X7umHRdh
— Bratislav Misic (@misicbata) October 6, 2022
The Neuropixels probe — a popular tool to record the activity of individual neurons in animal models — can be used safely in people, according to a June paper shared by the Chang Lab at the University of California, San Francisco.
Sharing our new paper “High-density single-unit human cortical recordings using the Neuropixels probe” https://t.co/wdM6ZBcDUh @NeuroCellPress [110]
— ChangLabUCSF (@ChangLabUcsf) June 14, 2022
And autism researchers on Twitter also thought the force was strong with the JEDI-2P, a genetically encoded voltage indicator. The protein-based biosensor “addresses a critical need in neuroscience: the noninvasive recording of rapid voltage transients for extended durations and in deep cortical layers,” according to its developers at the St. Pierre Lab at Baylor College of Medicine in Houston, Texas.
We finally achieved a dream I had 10 years ago: sustained (>30 min) deep-tissue (>400 um deep) imaging of fast voltage dynamics (e.g., spikes in bursts) in the brains of awake behaving mice. See our paper in *Cell* here: https://t.co/empIhzY4Gu
— St-Pierre Lab (@StPierreLab) August 22, 2022
We’ll end our end-of-year reflection on two threads that asked big questions about the brain.
What is the relationship between language and thought? asked Ev Fedorenko, associate professor of psychiatry at the Massachusetts Institute of Technology, in a thread that led to a long, thought-provoking discussion. The relationship “may be one of the deepest and most exciting questions in cognitive science,” she wrote.
As promised, a????on language and thought. The relationship between language and thought has long been pondered and debated. It may be one of the deepest and most exciting questions in cognitive science. 1/n
— Ev (like in ‘evidence’, not Eve) Fedorenko ???????? (@ev_fedorenko) August 2, 2022
And does the brain’s physical shape contribute to our cognitive power? It may, according to a bioRxiv preprint shared by study investigator James Pang, a research fellow at Monash University in Melbourne, Australia, who sought to explain how “the underlying physical geometry of the brain constrains emerging brain dynamics and function.”
This work revolves around the question:
How does the underlying physical geometry of the brain constrains emerging brain dynamics and function?We tried to answer this question by combining MRI data and an eigenmode-based approach, popularly used in Physics and Engineering (2/n)
— James Pang (@jchrispang) October 5, 2022
That’s it for Spectrum’s roundup of the top autism research tweets of 2022. If some of your own favorites didn’t appear here, share them with us and the community in the comments section.
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