The National Institutes of Health has renewed support for Artificial Intelligence for Alzheimer’s Disease, or AI4AD. The new $12.6 million award to advance the project’s next phase, AI4AD2, brings its total investment in AI4AD to $30.7 million. Led by Paul M. Thompson, PhD, associate director of the USC Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) … Read more
Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers. This framework could improve the accuracy of precision oncology by more reliable prioritization of VUS. Comprehensive genomic profiling (CGP) enables comprehensive detection of … Read more
A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have had their entire genome sequenced, with 23 per cent receiving a genetic diagnosis, according to a study published in Genome Medicine. The … Read more
Chronic inflammation can raise a person’s risk of cancer, and a new study reveals key details about how that might happen in the gut and points to better ways to identify and reduce risk. Scientists at the Broad Institute and Harvard University have revealed in mice that after colitis, or chronic intestinal inflammation, seemingly healed … Read more
Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool. A review published in Pediatric Investigation examines how next-generation sequencing could expand NBS from single-disease assays to genome-enabled, multi-disease screening approaches. … Read more
In a randomized clinical trial of older adults, researchers found that taking multivitamins for two years modestly slowed epigenetic markers of aging — equivalent to roughly four months less biological aging compared with a placebo. Li et al. evaluated the two-year effect of daily multivitamin-multimineral supplements and cocoa extract (500 mg cocoa flavanols per day, including … Read more
Learning French, reading the latest Andy Weir novel, hanging out with friends for St. Patrick’s Day – language is central to all these everyday activities. Seemingly effortless from childhood, language, it turns out, is quite complex, not constrained to one set of genes or one region in the brain. Cognitive neuroscientists are now using a … Read more
An insightful mini-review published in Genomic Psychiatry synthesizes the rapidly expanding landscape of molecular genetic research on common epilepsies, assembling evidence from genome-wide association studies, whole-exome sequencing projects, and advanced statistical modeling to illuminate the polygenic architecture that underpins these heterogeneous neurological disorders. The synthesis, led by Dr. Olav B. Smeland of the Centre for … Read more
Scientists reveal how evolution within our own tissues can drive disease, protect cells, and uncover hidden therapeutic targets for future precision medicine. Somatic genomics uncovers the outcomes of evolutionary competitions within our tissues, which can drive disease, counter monogenic disease, or protect from common diseases In a recent study published in the journal Cell, researchers reviewed … Read more
Few drugs have entered mainstream awareness as quickly or as dramatically as glucagon-like peptide-1, or GLP-1 receptor agonists. Initially approved by the FDA for the treatment of type 2 diabetes, they have since also transformed the therapeutic landscape of obesity and weight management. These medications are clearly effective. They stimulate the release of insulin and … Read more