A new study from the Mayo Clinic finds that current screening protocols fail to catch a significant number of individuals with genetic mutations linked to hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome, which increase the risk of developing certain cancers. Their findings, published in JCO Precision Oncology,…

Research led by Baylor College of Medicine and the University of Cambridge has discovered mutations in the gene TRPC5, located on the X chromosome, that can cause obesity and postpartum depression. This gene is expressed in the hypothalamus in the brain and is thought to impact a number of different…

Researchers at the NYU Langone Health and the NYU Grossman School of Medicine have developed a novel technique called HiDEF-seq (Hairpin Duplex Enhanced Fidelity Sequencing) that can detect the earliest molecular changes in DNA that precede genetic mutations. The new method, detailed in a study published in Nature, could significantly…

New genome editing tools called multiplexed orthogonal base editors (MOBEs) install multiple point mutations at once, according to researchers from the University of California San Diego (UCSD) who developed them. MOBEs use RNA structures called aptamers—small RNA loops that bind to specific proteins—to recruit base-modifying enzymes to specific genomic locations…

New research lead by investigators at the Wellcome Sanger Institute has identified 17 additional age-related mutations in genes that drive the abnormal overgrowth of blood cells. The findings, published in Nature Genetics, give additional information about the genetic factors that influence clonal hematopoiesis, a process linked to aging and to…

For the past ten years or so, APOBEC3 cytidine deaminases (APOBEC) enzymes have emerged as important cancer targets in a number of solid tumor types. Their mutational rate is higher in cancer cells than in normal cells and when they are expressed in cancers, those cancers have a worse prognosis.…

A team of investigators from The Australian National University (ANU) reporting today in Nature Communications say they have discovered a gene mutation that is responsible for causing psoriasis, the chronic inflammatory disease that results in red, scaly, itchy patches on the skin. The researchers showed that if two copies of…

Researchers at the University of California, Irvine (UCI), have uncovered the significant roles of two enzymes, APOBEC3A and APOBEC3B, in creating mutations within cancer genomes, opening up new avenues for developing targeted intervention strategies in cancer treatment. Reporting in Nature Communications, the study highlights how these enzymes modify the DNA…

Researchers at the Massachusetts Institute of Technology (MIT) report that their new approach of using CRISPR-based prime editing provides a faster and more efficient way to screen for cancer mutations in individual genes in their natural setting. This will allow researchers to better understand the role those mutations play in…

Mutated C9orf72 may cause many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) through the overproduction of Interleukin-17A (IL-17A), a potent inflammatory molecule, according to new work from researchers at the Harvard Stem Cell Institute and collaborators. Treatments that block IL-17A have already been approved by the U.S.…

Researchers from Northwestern University and the University of California, San Francisco (UCSF), reporting Wednesday in the journal Nature, say they have developed a new technique to encode human T cells with a mutation found in malignant T cells that cause lymphoma. The investigators say this new immunotherapy approach is 100…

Research led by the Wellcome Sanger Institute and the University of Cambridge suggests that more than one kind of genetic mutation is needed to develop a rare blood cancer known as a myeloproliferative neoplasm (MPN). MPNs are a group of rare blood cancers that involve over production of mature blood…

Researchers at the University of Southern California (USC) reported this week they have newly identified a genetic mutation in a small protein that provides significant protection against the development of Parkinson’s disease. This new finding, reported in the journal Molecular Psychiatry, makes this beneficial variant an important target for developing…

Researchers from the Max Delbrück Center for Molecular Medicine and the Charité University Hospital in Berlin, Germany have uncovered the PDM16 gene as a previously unknown genetic factor that increases the risk of congenital heart failure in women.  Heart failure, characterized by the heart’s inability to pump blood effectively, is…

One of the largest research efforts studying genes associated with prostate cancer reveals that mutations in 11 genes are associated with aggressive disease. The study, which analyzed samples from 17,500 cancer patients and published in JAMA Oncology, found mutations in several genes not already included in common prostate cancer genetic…