by The Mount Sinai Hospital Artistic representation of the gene clusters that influence cancer progression in Drs. Xu and Zhang’s latest research study in Genome Research. Credit: Mount Sinai Health System Researchers at the Mount Sinai Center for Transformative Disease Modeling have released a study identifying 4,749 key gene clusters, termed “prognostic modules,” that significantly influence...
Super-precise gene-editing approach switches off a gene in the liver that regulates ‘bad’ cholesterol. Miryam Naddaf Cholesterol crystals (red) in a lipid droplet in a human liver.Credit: Steve Gschmeissner/Science Photo Library The first trial in humans of the precise gene-editing technique known as base editing has shown promising results for keeping cholesterol levels in check....
Machine-learning approach detects Alzheimer’s disease with an accuracy of more than 90% — a potential boon for clinicians and scientists developing treatments. Max Kozlov AI that reads brain scans shows promise for finding Alzheimer’s genesMachine-learning approach detects Alzheimer’s disease with an accuracy of more than 90% — a potential boon for clinicians and scientists developing...
by Gladstone Institutes New research, led by a Gladstone team including Maxine Nelson (left) and Yadong Huang (right), sheds light on protective mechanisms of the “Christchurch mutation.” Credit: Michael Short/Gladstone Institutes (2023) Researchers at Gladstone Institutes have discovered that a rare genetic variant known as the “Christchurch mutation” can block detrimental effects of apolipoprotein E4, the...
Nancy A. Melville November 06, 2023 PHOENIX — Children with Duchenne muscular dystrophy (DMD) treated with the only gene therapy to date to be approved for treatment of disease in the United States show sustained maintenance of motor function after 4 years, compared with untreated patients who showed significant decline over the same time period, new research...
by Keck School of Medicine of USC Credit: CC0 Public Domain A globe-spanning scientific team has compiled the most comprehensive list of genetic variants associated with prostate cancer risk—451 in all—through a whole-genome analysis that ranks as the largest and most diverse investigation into prostate cancer genetics yet. The research, led by the USC Center for...
by NIH/National Human Genome Research Institute Researchers have found that previous studies analyzing the genomes of people with European ancestry may have reported inaccurate results by not fully accounting for population structure. Credit: Darryl Leja, National Human Genome Research Institute Researchers have found that previous studies analyzing the genomes of people with European ancestry may have...
by Alan Dove, Columbia University Irving Medical Center The new model provides a unique opportunity to understand how adenosquamous tumors, which are essentially unresponsive to current treatments, arise in the pancreas. In the new study, the researchers found that Hmmr gene activity is important for the growth of ASCP tumors and could be a new therapeutic...
Karen H. Miga Evan E. Eichler DOI:https://doi.org/10.1016/j.ajhg.2023.09.011 SummaryAdvances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased...
by Julia Evangelou Strait, Washington University School of Medicine in St. Louis Schematic of the data generation and study design, showing the cancer types and sample types collected, the building, annotation and integration of the atlas, and the biological entities that were investigated. Credit: Nature (2023). DOI: 10.1038/s41586-023-06682-5 For decades, scientists have been sequencing the DNA...
