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Community Newsletter: PAX5 mutations, rare-disease gene bank, dopamine primer

by  /  21 August 2022

Who doesn’t love a crossover episode? This week, several tweets highlighted a collaborative effort between geneticists and immunologists. Together they showed that a recessive mutation in both copies of PAX5, a top autism candidate gene that regulates the development of immune cells, can impair brain development in mice and cause a form of antibody deficiency called hypogammaglobulinemia.

The study’s co-lead investigator Aleksandra Badura, associate professor of neuroscience at Erasmus University in Rotterdam, the Netherlands, tweeted, “It’s been a privilege to collaborate with such incredible group of scientists and clinicians …”

Study investigator Louisa Hill, a postdoctoral researcher at the Research Institute of Molecular Pathology in Vienna, Austria, shared that team spirit, tweeting, “It was great to be part of this collaborative effort.”

Sarah Gruenbacher, a graduate student at the research institute, who was also involved in the study, echoed her colleagues in a quote tweet, adding, “Give it a read to see how Pax5 is important in #Bcells and #braindevelopment!”

“We have known for ages that PAX5 is highly expressed in B cells & the brain,” tweeted the Immunology and Immunodeficiency Lab at the Garvan Institute of Medical Research in Sydney, Australia. “Now, Busslinger lab has ID 1st case of human recessive PAX5 deficiency with hypogamma & ASD.”

“A very cool story that shows how twisted and collaborative research often is these days,” wrote Benedikt Mandl, head of communications at the Research Institute of Molecular Pathology, in a quote tweet, calling the research an exciting crossover between immunology and autism.

In a separate thread, Konrad Karczewski, a computational biologist at the Broad Institute in Cambridge, Massachusetts, shared his paper that showed associations among rare genetic variants and 4,529 diseases and traits.


Karczewksi also shared a link to the database generated with data from the paper, tweeting, “You can browse associations for your favorite gene, phenotype, or variant …”

“Queries of a few well known ASD/ID genes turns up alot of blood biomarkers and metabolic traits and relatively few cognitive traits,” pointed out Jonathan Sebat, professor of psychiatry and cellular and molecular medicine at the University of California, San Diego. He then asked if neurocognitive traits were excluded.

Karczewski replied that it may have something to do with “a minimum case count coupled with an older population ascertainment.”

“A terrific example of the power of collaboration between academia and industry,” tweeted Heidi Rehm, chief genomics officer at Massachusetts General Hospital in Boston.

Lastly, Kauê Machado Costa, visiting fellow at the National Institute on Drug Abuse in Baltimore, Maryland, shared his primer on dopamine, a resource meant for people unfamiliar with the field.

“This is an excellent primer!” tweeted Steven Quartz, professor of philosophy at the California Institute of Technology in Pasadena, adding his appreciation for the mention of all the inaccurate information about dopamine fasting on social media.

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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Cite this article: https://doi.org/10.53053/IOEN2438

TAGS:   autism, community, community newsletter
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