Research Roundup: July 25, 2022

A widespread cancer gene, exploring nanoparticle uptake, and measuring milestones in autism

Susanna M. Hamilton
Credit: Susanna M. Hamilton

Welcome to the July 25, 2022 installment of Research Roundup, a recurring snapshot of recent studies published by scientists at the Broad Institute and their collaborators.

Gene erroneously active in 70 percent of cancer types

Genes that are active in cancer but inactive in most normal tissues can be attractive targets for therapeutic development. Jessica Tsai, associate member Pratiti Bandopadhayay, and colleagues analyzed more than 10,000 adult and pediatric cancers and found that a gene called FOXR2 — which is normally expressed only in the testis — was active in at least 70 percent of cancer types and eight percent of individual tumors they studied. They found that FOXR2 expression helped tumors form, and was required for cells' ongoing growth. Scientists hope that turning off the gene could be an effective strategy for treating fatal childhood cancers. Read more in Cancer Research and a Broad news story.

Spotting nanoparticles in cells

Nanoparticles are a promising way to transport drugs and other molecular therapies to tumors, but little is known about the way they interact with cells. In Science, Natalie Boehnke, Joelle Straehla, Director of PRISM Jennifer Roth, institute member Angela Koehler and associate member Paula Hammond of the Cancer Program, and colleagues built a massively parallel screen that describes the relationship between nanoparticles and cellular uptake. Their screen, which reports nanoparticle activity by scanning barcoded cancer cells encoded with multiomic data, leveraged machine learning to decipher a host of genomic networks and biomarkers that drugmakers could use to determine whether their nanoparticle therapies work. Read more in Science perspective a MIT News story.

Mapping milestone variability in autism

Children with autism often reach developmental milestones later than those without, but few studies have systematically explored how much milestone timing varies among autistic individuals. Susan Kuo, institute member Elise Robinson of the Stanley Center for Psychiatric Research, and colleagues compared data from 17,000+ autistic children and 4,000+ non-autistic siblings, finding that autistic children reached milestones 1 to 20 months later, with longer delays for later milestones like speaking. They saw more variability in children diagnosed young, having co-occurring intellectual disability, or carrying a rare variant associated with neurodevelopmental disorders. Their results, published in JAMA Pediatrics, provide important insights into how much autistic children's early life experiences can vary. Learn more in a tweetorial by Kuo.

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