by The Spanish National Cancer Research Centre Systematic analysis of the enrichment of rare pathogenic variants in cases compared to control samples. a Proposed hypothesis that rare pathogenic variants in Mendelian disease-associated genes (OMIM genes) increase the risk of cancer. b Overview of the case–control analysis. Principal components analysis (PCA) using common variants was performed to...
By Paul McClure Researchers have pinpointed a genetic mutation that can lead to lupusDepositphotos In two separate studies, German researchers have identified the single-gene mutation that can lead to the incurable autoimmune disease lupus. The discovery opens the door to developing new therapeutic approaches and testing for the mutation, which would ensure early diagnosis of the...
by Levi Gadye, University of California, San Francisco Graphical abstract. Credit: JCI Insight (2023). DOI: 10.1172/jci.insight.172665 Researchers have found a gene that links deafness to cell death in the inner ear in humans—creating new opportunities for averting hearing loss.A person’s hearing can be damaged by loud noise, aging and even certain medications, with little recourse beyond...
By adapting virus-like particles to carry the machinery for a type of gene editing called prime editing, scientists have corrected disease-causing mutations in animals and increased editing efficiency.Peer-Reviewed Publication BROAD INSTITUTE OF MIT AND HARVARD Prime editing, a versatile form of gene editing that can correct most known disease-causing genetic mutations, now has a new...
by University of Tokyo Graphical abstract. Credit: Nucleic Acids Research (2023). DOI: 10.1093/nar/gkad1164Technological advancements have enabled scientists to comprehensively explore genetic control elements, unraveling the complexities of gene activation mechanisms in our genetic code. New evidence challenges the simplistic view that cis-regulatory elements (CREs) are mere on/off switches for genes, emphasizing their ability to exhibit complex...
Autophagy genes help extrude protein aggregates from neurons in the nematode C. elegans Peer-Reviewed Publication BUCK INSTITUTE FOR RESEARCH ON AGING Autophagy, which declines with age, may hold more mysteries than researchers previously suspected. In the January 4th issue of Nature Aging, it was noted that scientists from the Buck Institute, Sanford Burnham Prebys and...
In a complex called chromatin, long strands of DNA in cells’ nuclei are tightly wrapped around a scaffolding of proteins, like a rolled-up ball of yarn. DNA – artistic interpretation.DNA – artistic interpretation. Image credit: Alius Noreika, created with Bing Image CreatorA new study by Weill Cornell Medicine investigators reveals that beyond providing a convenient...
by University of Southern California Credit: Unsplash/CC0 Public DomainA previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study. The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be...
Peer-Reviewed Publication BAYLOR COLLEGE OF MEDICINE Just like a doctor adjusts the dose of a medication to the patient’s needs, the expression of therapeutic genes, those modified in a person to treat or cure a disease via gene therapy, also needs to be maintained within a therapeutic window. Staying within the therapeutic window is important...
by Perelman School of Medicine at the University of Pennsylvania Credit: Cell (2023). DOI: 10.1016/j.cell.2023.11.019Researchers have found new disrupted genes and an unexpected molecular pattern—dubbed BREACHes—related to fragile X syndrome (FXS), a genetic disorder estimated by the Centers for Disease Control and Prevention to impact about 1 in 7,000 males about 1 in 11,000 females. The...
