Insights & Outcomes: Gene variants and quantum competitions

This month, Insights & Outcomes investigates the molecular foundations of a rare disorder, kvells over a quantum hackathon, explores the buoyant nature of the childhood immune system, and forges new frontiers in the world of artificial spin ice.

As always, you can find more science and medicine research news on YaleNews’ Science & Technology and Health & Medicine pages.

Tracking down a rare, genetic disorder

When a young Brazilian girl developed a peculiar form of ANE syndrome, a rare genetic disorder marked by facial malformations and intellectual disability, her doctors asked Yale biochemist Susan Baserga and Mayo Clinic geneticist Filippo Pinto e Vairo to investigate a potential molecular cause.

Although the child presented with symptoms of ANE syndrome (including hair loss, and abnormalities in the skin and face), the researchers discovered the actual cause of her disease was a novel inherited gene variant not previously reported in the medical literature. Against extraordinary odds, the young girl inherited two abnormal variants of the gene RBM28, from both her mother and father. In healthy people, RBM28 is crucial for the assembly of the ribosome, life’s universal protein-making machinery. One of the variants inherited by the girl would have been lethal, had the second not produced a partially functional RBM28 protein.

This variant was just enough to confer life, but not enough for normal neurological development,” Baserga said. Previously, ANE syndrome had been reported only in one other family from the Middle East, but with a different variant. “We were able to establish the molecular pathogenesis of her disease, but also learned more about how RBM28 works and how ribosomes are made,” said Yale graduate student Carson Bryant. The research was published the week of May 3 in the journal Proceedings of the National Academy of Science.

An artificial spin ice primer

And now a quick pivot to the history and future of artificial spin ice.

About 15 years ago, Peter Schiffer, Yale’s Frederick W. Beinecke Professor of Applied Physics, helped launch a new field of research based on a magnetic system — artificial spin ice — in which arrays of tiny, magnetic nanostructures are designed to interact and display unusual physics properties. These arrays have been used to probe how nanometer-scale objects behave in a group that can be precisely controlled and imaged.

In a pair of new journal articles, Schiffer and his colleagues look back on the beginnings of the discipline and break new scientific ground. The first article is a review of the field in the journal Applied Physics Letters. In the second, published in the journal Physical Review X, Schiffer and co-authors from Los Alamos National Laboratory look at the “noise” coming from effective magnetic monopoles. A magnetic monopole is a magnetic charge that is equivalent to an electric charge.

Monopoles have never been observed as free objects, like electrons or protons,” Schiffer says, “but they do effectively exist in grouped structures like artificial spin ice. This paper probes a fluid of these monopoles within artificial spin ice and examines how they interact with each other.”

Studying the COVID-19 immune response in kids

A child’s immune system provides a big boost in fending off the virus which causes COVID-19. A team of researchers led by the husband-and-wife team of Dr. Kevan Herold, the C.N.H. Long Professor of Immunobiology and of Medicine (Endocrinology) at Yale, and Dr. Betsy Herold, chief of infectious diseases and vice chair for research in the Department of Pediatrics at the Albert Einstein College of Medicine, analyzed fluid and cells taken from nasal swabs of 12 children and 27 adults who had tested positive for COVID-19.

The children expressed more genes associated with immune cell response than adults and showed higher levels of cytokines, small proteins that coordinate immune response to pathogens. None of the 12 children studied required oxygen, while seven of 27 adults were given oxygen and four of them died. The Herolds suggest that children’s stronger innate immune system response, the first line of defense against invading pathogens, gave them an advantage over adult defenses against the coronavirus. Bolstering the innate response in adults may help treat those with severe COVID-19, the authors suggested. The studywas published April 6 in the journal JCI Insight.

Getting to the root of…

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