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Researchers in a lab using the V2P AI tool to analyze genetic mutations and predict disease categories on a high-tech screen.
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AI tool links genetic mutations to likely disease categories

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Researchers at the Icahn School of Medicine at Mount Sinai have developed an artificial intelligence system called V2P that not only assesses whether genetic mutations are likely to be harmful but also predicts the broad categories of disease they may cause. The approach, described in a paper in Nature Communications, is intended to accelerate genetic diagnosis and support more personalized treatment, particularly for rare and complex conditions.

Researchers in Brazil have uncovered how pancreatic cancer uses a protein called periostin to invade nerves and spread early. This discovery explains the disease's aggressiveness and suggests new treatment targets. The findings, published in Molecular and Cellular Endocrinology, highlight the tumor's ability to remodel surrounding tissue.

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MIT researchers have invented a swallowable pill that signals when medication is taken, aiming to combat poor adherence rates among patients. The device uses a biodegradable antenna to transmit a wireless confirmation shortly after ingestion. This innovation could benefit high-risk groups like organ transplant recipients and those with chronic infections.

In a rare deep-brain recording study of a woman with severe obesity and loss-of-control eating, tirzepatide — sold as Mounjaro and Zepbound — temporarily silenced activity in a key reward region linked to “food noise,” or intrusive thoughts about food. About five months later, those brain signals and intense food preoccupation reappeared, suggesting the drug’s effects on this patient’s cravings were short‑lived.

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A large Mayo Clinic study reports that current guidelines fail to detect nearly 90% of people with familial hypercholesterolemia, a common inherited cause of dangerously high cholesterol and early heart disease. Researchers analyzed exome data from more than 84,000 participants and found that most would not have been selected for standard genetic testing. Expanding routine DNA screening, they say, could help identify at-risk individuals earlier and prevent severe cardiovascular outcomes.

An international team has identified an early 'Big Bang' moment in colorectal (bowel) cancer when tumor cells first evade immune surveillance, a finding that could refine who benefits from immunotherapy. The work, funded by Cancer Research UK and the Wellcome Trust, analyzed samples from 29 patients and was published in Nature Genetics on November 5, 2025.

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Duke-NUS Medical School researchers, working with the University of Sydney, have developed BrainSTEM—a two-tier, single-cell atlas of the developing human brain that profiles nearly 680,000 cells. Published online in Science Advances on October 31, 2025, the resource focuses on midbrain dopaminergic neurons, flags off‑target cell types in lab-grown models, and will be released openly for the research community.

 

 

 

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