by Ana María Rodríguez, Baylor College of Medicine Credit: Pixabay/CC0 Public Domain An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, was published in Genetics...
Tag: <span>Genetics</span>
Post
Researchers flip genes on and off with AI-designed DNA switches
The new method could revolutionize gene therapy and biotechnology by allowing precise activation or repression of genes in specific tissues. Jackson Laboratory image: A graphical representation of how cis-regulatory elements work to turn genes on or off and open possibilities for personalized medicine. Credit: Broad Institute of MIT and Harvard Researchers at The Jackson Laboratory...
Post
Custom alterations: Mending genes for long-lasting effects
Minimal toxicity observed after LNP-Cas9 treatments. Credit: Science (2024). DOI: 10.1126/science.adk9428 Gene-editing therapies—techniques that modify DNA to treat or prevent disease—have the potential to transform the field of drug development. By making precise edits to the genome, problematic genes could be modified or eliminated, representing long-lasting therapies for genetic disorders that currently have no treatment. Few gene-editing...
Post
Large-scale study of children with genetic disorders finds huge benefit of diagnosis
Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Peer-Reviewed Publication Wellcome Trust Sanger Institute image: Jaydi today Credit: Photo courtesy of Lisa Hawker Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights...
Post
Study finds genetics, not lifestyle, is a major cause of gout
Linking of insulin signaling, the tricarboxylic acid cycle and epigenomic reprogramming cellular pathways with candidate gout-associated genes. Credit: Nature Genetics (2024). DOI: 10.1038/s41588-024-01921-5 A major international study has found that gout is a chronic illness in which genetics is a major cause, rather than the lifestyle choices of the sufferer. Led by University of Otago researchers, the genome-wide...
Post
Proto-Oncogene Activation: The Genetic Shift that Fuels Cancer
By Dr. Priyom Bose, Ph.D.Reviewed by Danielle Ellis, B.Sc. Proto-oncogenes are a group of genes that normally regulate cell division and growth by encoding regulator proteins for cell cycle, growth factors, transcription factors, DNA-binding proteins, and protein kinases that are involved in signal transduction. Upon mutation, proto-oncogenes change to oncogenes and transform normal cells into...
Post
Hungry gut’ gene test shows who will benefit most from Wegovy – genetics
by Robin Foster You’ve watched others shed pounds in a matter of weeks after taking one of the new blockbuster weight-loss drugs, so you decide to try one of the medications yourself, only to discover the needle on your bathroom scale barely budges. Why? New research presented Monday at the Digestive Disease Week conference in...
Post
Black individuals with a genetic mutation found to have increased risk of developing atrial fibrillation, heart failure
by Anna Jones, University of Alabama at Birmingham This figure depicts the cumulative incidence of the study outcomes stratified by the hiPSI TTNtv carrier status in individuals of African ancestry. The study outcomes include atrial fibrillation, DCM and heart failure. TTNtv carriers and noncarriers have been depicted in red and blue, respectively. Credit: Nature Cardiovascular...
Post
Tool Uses Genetics to Diagnose Early Inflammatory Arthritis
Lucy Hicks A new diagnostic tool can effectively discriminate different rheumatologic conditions and could potentially aid in the diagnosis of early inflammatory arthritis. The algorithm — called Genetic Probability tool (G-PROB) — uses genetic information to calculate the probability of certain diseases. “At such an early stage of disease, it’s not always easy to determine...
Post
Clues to preventing Alzheimer’s come from patient who evaded disease, despite genetics
by Washington University School of Medicine Credit: Cell (2023). DOI: 10.1016/j.cell.2023.11.029 Alzheimer’s disease has plagued one large Colombian family for generations, striking down half of its members in the prime of life. But one member of that family evaded what had seemed would be fate: Despite inheriting the genetic defect that caused her relatives to develop...