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
Cholera-causing bacteria are locked in an evolutionary arms race with a viral nemesis, according to a new genomic study. Experts at the Wellcome Sanger Institute, icddr,b (International Centre for Diarrhoeal Disease Research, Bangladesh), the Post Graduate Institute of Medical Education & Research (PGIMER), and their collaborators, found that in the Ganges Delta, cholera bacteria rapidly … 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
Researchers from China have identified a novel bacteriophage that offers a highly promising “green” biocontrol solution against foodborne Salmonella. The study was published in Applied and Environmental Microbiology, a journal of the American Society for Microbiology. This study was conducted to address the severe challenges posed by antimicrobial-resistant Salmonella to global food safety and public … 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
Cancer is caused by faulty genes, but what also shapes a cancer cell’s behaviour is how a gene’s instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive. A study published in Nature Communications reveals a new way of measuring that editing process, known as splicing, directly. It … 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
A comprehensive invited review published today in Brain Medicine confronts one of the most persistent paradoxes in modern medicine: psychiatry remains the only major clinical discipline that diagnoses complex illness primarily through conversation and symptom checklists, while fields such as oncology and cardiology long ago embraced laboratory markers, imaging, and molecular profiling. The review, authored … Read more
Researchers at Memorial Sloan Kettering Cancer Center (MSK) have made an important discovery about how genetic mutations in breast cancer patients can interact and drive resistance to certain drugs called CDK4/6 inhibitors. This finding, published in Nature, suggests a new strategy for predicting and preventing resistance to specific therapies based on the tumor’s genetic profile. This represents … Read more