Illustration by Laurene Boglio
Welcome to April and #AutismAcceptanceMonth.
The cover of Science Friday hailed a landmark year in the making: The Telomere-to-Telomer consortium finally closed nearly every gap in the original human genome project, adding about 200 megabases of genetic information, more than 1,900 genes and a sequence complete for the Y chromosome.
To mark the occasion, Evan Eichler, professor of genome science at the University of Washington in Seattle, tweeted for the first time, noting that the project, which involved more than 100 researchers, had been a “wonderful collaborative teamwork.”
It took over 20 years, but we finally completed a human genome. What wonderful collaborative teamwork! #T2T (my first tweet)
— Evan Eichler (@EichlerEE) March 31, 2022
“Congratulations!” tweeted Claudia Gonzaga-Jauregui, assistant professor of genetics at the National Autonomous University of Mexico in Mexico City, calling the results “awesome resource— and noting that Eichler’s tweet comes nearly a decade after he created an account.
Congratulations! Great achievement and tremendous resource for the human genomics community. (You’ve had Twitter since 2013?!)
— Claudia Gonzaga-Jauregui (@cgonzagaj) April 1, 2022
Simon Barnett, a genomics analyst at ARK Investment Management in St. Petersburg, Florida, joked that Eichler had “set a new bar for the first tweets.”
You’ve set a new bar for first tweets! Congratulations!
— Simon Barnet (@sbarnettARK) March 31, 2022
“Welcome to the dark side!” Jonathan Sebat, a professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, chimed in.
Welcome to the dark side! https://t.co/SN1UCTVX0w
—Jonathan Sebat (@sebatlab) March 31, 2022
In the area of autism-specific genetics, Daniel Weiner, a Harvard University graduate student working in Elise Robinson’s lab, posted a 14-tweet thread about their new preprint that finds functional convergence of common and rare genetic variants linked to autism around the chromosomal region 16p11.2.
Excited to share our latest work!!
We uncover the functional convergence of common + rare genetic risk factors for autism around 16p11.2, a longstanding region of mystery in neuropsychic research ????
???? ???? (1/14)https://t.co/W0vUbFFHYG
—Dan Weiner (@danweiner92) March 24, 2022
Common and rare risk factors »converge towards a decrease in gene expressionthrough 16p, “facilitated by 3D genome architecture,” he writes.
In summary:
Assumption of a TSA liability model derived from 16p:
Distinct genetic risk factors – common PRS 16p ASD / 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
” It was the More funtweeted Robinson, assistant professor of epidemiology at Harvard University, asking for comment.
It was the most fun. Check out the document – we’d love to hear your ideas. https://t.co/XpNrmQ2AJx
— Elise Robinson (@elisebrobinson) March 24, 2022
The Policy Impact Project – launched by Lindsay Shea, director of the Policy and Analytics Center at Drexel University in Philadelphia, Pennsylvania, to link autism research to policy change – tweeted about its upcoming “power lunchfor autism researchers. The webinar, scheduled for April 13 from noon to 1 p.m. EST, will discuss how to avoid ableist language.
Our next Policy Power Lunch will feature the authors of Avoiding Ability Language: Suggestions for Autism Researchers. @KristenBott, @drstevenkapp, @NinaLester, @Noahsasson & @BN_Hand
Click here to register and learn more about the panelists: https://t.co/0fz6UMOddq https://t.co/s3nItNgoFv
— Policy Impact Project (@impact_policy) March 28, 2022
That’s it for this week’s Community Newsletter! If you have any suggestions for interesting social posts you’ve seen in the area of autism research, feel free to email [email protected]
Cite this article: https://doi.org/10.53053/TYWA3032
