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First major trial of AI in breast cancer screening launches in the USA

A study led by Sylvester Comprehensive Cancer Center, part of University of Miami Miller School of Medicine (FL, USA) seeks to understand how AI can improve breast cancer screening. The Pragmatic Randomized Trial of Artificial Intelligence for Screening Mammography (PRISM) trial will examine hundreds of thousands of mammograms to “assess AI’s true impact”

Despite huge investments in research, breast cancer remains a leading cause of mortality in US women. Routine mammography has increased the diagnosis of early-stage cancer, but the increased incidence of false positives can lead to unnecessary testing, anxiety and higher costs.

“As the first major randomized trial of AI in breast cancer screening in the US, this study represents a pivotal step,” commented Jose Net, University of Miami Miller School of Medicine and co-principal investigator of the study. “Our goal is to rigorously and objectively assess AI’s impact, identifying who benefits and who may not.”

Discovery of brain parasite’s unique control protein offers hope for better toxoplasmosis treatments

Rajshekhar Gaji was staring at something that should not exist. Under his microscope, parasites that should have been thriving were instead dying—completely unable to survive without a protein his lab had managed to switch off.

“It was an amazing day,” said Gaji, assistant professor of parasitology at the Virginia–Maryland College of Veterinary Medicine. That moment of discovery could eventually help the 40 million Americans walking around with a microscopic parasite permanently residing in their brains.

The findings are published in the journal mSphere.

Gene therapy delivers lasting immune protection in children with rare disorder

An experimental gene therapy developed by researchers at UCLA, University College London and Great Ormond Street Hospital has restored and maintained immune system function in 59 of 62 children born with ADA-SCID, a rare and deadly genetic immune disorder.

Severe combined immunodeficiency due to adenosine deaminase deficiency, or ADA-SCID, is caused by mutations in the ADA gene, which creates an enzyme essential for immune function. For children with the condition, day-to-day activities like going to school or playing with friends can lead to dangerous, life-threatening infections. If untreated, ADA-SCID can be fatal within the first two years of life.

The current standard treatments— from a matched donor or weekly enzyme injections—come with limitations and potential long-term risks.

New world record set for fastest human whole genome sequencing

Boston Children’s Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours. This milestone not only sets a Guinness World Records for the fastest human whole genome sequencing to date but represents a significant clinical development that would expedite more precise treatments for critically ill babies in the NICU.

The team’s pilot data are published in the New England Journal of Medicine.

Current clinically available rapid genomic sequencing options take days (from sample receipt to report) at best, yet many critical care decisions in the NICU need to occur within a matter of hours. While there have been prior demonstrations of genome-sequencing within hours, none up to now have been scalable or feasible for routine use.

Living brain tissue reveals unique RNA and protein patterns missed in postmortem studies

Two new research papers from the Living Brain Project at Mount Sinai present what is, by several metrics, the largest investigation ever performed of the biology of the living human brain. The papers present unequivocal evidence that brain tissue from living people has a distinct molecular character, an observation that until now was missed because brain tissue from living people is rarely studied.

The findings, which were recently published in Molecular Psychiatry and PLOS ONE, call for a re-evaluation of how scientists study the human brain.

Postmortem brain samples—tissue samples obtained from individuals who donate their brain to science after death—are currently the standard tissue source used by scientists to study how our brains work at the deepest level.

‘Jump-scare’ science: Study elucidates how the brain responds to fear

In haunted houses across the country this month, threatening figures will jump out of the shadows, prompting visitors—wide-eyed and heart racing—to instinctively freeze and flee.

Evolutionarily speaking, this “innate response” is key to survival, helping a wide variety of animal species escape predators. But when stuck in overdrive it can cause problems for humans.

A University of Colorado Boulder research team has identified a novel brain circuit responsible for orchestrating this threat response. Known as the interpeduncular nucleus (IPN), this dense cluster of specialized neurons not only jump-starts that freeze-and-flee reaction, but dials it down when animals learn there’s no real danger.

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