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Spectrum: Autism Research News

Community Newsletter: Completed human genome, chromosome 16 convergence, avoiding ableism

by  /  3 April 2022
Speech bubble formed by a network of communication

Illustration by Laurène Boglio

Welcome to April and #AutismAcceptanceMonth.

The cover of Science on Friday hailed a milestone years in the making: The Telomere-to-Telomere Consortium has at last filled in nearly all of the gaps from the original Human Genome Project, adding about 200 megabases of genetic information, more than 1,900 genes and a complete sequence for the Y chromosome.

To mark the occasion, Evan Eichler, professor of genome sciences at the University of Washington in Seattle, tweeted for the first time ever, noting that the project, which involved more than 100 researchers, had been a “wonderful collaborative team effort.”

“Congratulations!” tweeted Claudia Gonzaga-Jauregui, assistant professor of genetics at the National Autonomous University of Mexico in Mexico City, calling the results an “awesome resource” — and noting that Eichler’s tweet comes nearly a decade after he created an account.

Simon Barnett, a genomics analyst at ARK Investment Management in St. Petersburg, Florida, joked that Eichler had “set a new bar for first tweets.”

“Welcome to the dark side!” Jonathan Sebat, professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, chimed in.

Over in the realm of autism-specific genetics, Daniel Weiner, a graduate student at Harvard University working in Elise Robinson’s laboratory, issued 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.

Both common and rare risk factors “converge on decreased gene expression” across 16p, “facilitated by 3D genome architecture,” he writes.

“This was the most fun,” tweeted Robinson, assistant professor of epidemiology at the Harvard University, asking for feedback.

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 lunch” for autism researchers. The webinar, scheduled for 13 April from noon to 1 p.m. EST, will discuss how to avoid ableist language.

That’s it for this week’s Community Newsletter! If you have any suggestions for interesting social posts you saw in the autism research sphere, feel free to send an email to [email protected].

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