by Massachusetts Eye and Ear Infirmary Senior study author Nazlee Zebardast, MD, MSc, director of Glaucoma Imaging at Mass Eye and Ear, examines OCT images. Credit: Mass Eye and EarThe retina is said to provide a window into a person’s systemic health. In a new study published January 24 in Science Translational Medicine, physician-researchers from Mass...
by Quinn Eastman, Emory University Graphical abstract. Credit: Cell Reports (2024). DOI: 10.1016/j.celrep.2023.113662A new Cell Reports paper from Bing Yao’s lab in Emory’s Department of Human Genetics provides insights into mechanisms underlying several neurodegenerative diseases, such as ALS (amyotrophic lateral sclerosis) and Alzheimer’s. It can be summarized in one line: TDP-43 keeps genetic zombies at bay....
Aissam Dam, third from left, was born ‘profoundly deaf’ because of a highly rare abnormality in a single gene.His father’s voice, the sounds of passing cars and scissors clipping his hair: An 11-year-old boy is hearing for the first time in his life after receiving a breakthrough gene therapy. The Children’s Hospital of Philadelphia (CHOP)...
by Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.) Individuals who carry the APOE4 gene variant have an elevated riskof developing subclinical atherosclerosis in middle age, whereas carriers of the variant APOE2 are protected. Credit: CNICScientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) in Madrid have found that one of the most potent genetic...
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...
