Mutations in a single gene, HNF1A, are known to cause MODY3, a rare, early-onset form of diabetes. Smaller-scale mutations in the very same gene are also common and quietly nudge millions of people toward type 2 diabetes. ...
Aug 6, 2025
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University of Otago–Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children.
Jun 23, 2025
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Deep within our nerve cells, a molecule is at work that has no beginning and no end. Instead of a straight chain, as is common for most RNA strands, it forms a closed loop. Known as circular RNAs (circRNAs), these molecules ...
Jun 10, 2025
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QIMR Berghofer-led research has shown that new advanced computational prediction tools can improve the accuracy of genetic testing for families affected by an inherited condition that significantly increases their risk of ...
Apr 29, 2025
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Scientists from The Hospital for Sick Children (SickKids) and the University of Las Vegas, Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic condition called myotonic dystrophy ...
Apr 21, 2025
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RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at Baylor College of Medicine's ...
Mar 4, 2025
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Immune therapy has transformed how cancer is treated, but many tumors continue to evade these treatments, thanks to their resemblance to healthy tissue. Now, researchers at UC San Francisco have found that some cancers, like ...
Feb 19, 2025
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Researchers from the Walter and Eliza Hall Institute (WEHI)in Australia have found a new way to predict a subset of patients who are likely to become resistant to PARP inhibitors (PARPi), a key therapy used to treat ovarian ...
Nov 13, 2024
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Researchers at the Centre for Genomic Regulation (CRG) have discovered hundreds of potential new cancer driver genes. The findings, published in the journal Nature Communications, significantly expands the list of possible ...
Sep 3, 2024
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Neuroendocrine tumors, including small cell lung cancer and neuroendocrine prostate cancer, are very aggressive with high chances of spreading. However, many individuals develop resistance to few available treatment options, ...
Jul 3, 2024
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