The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.
A man who received a partial face and eye transplant after a serious accident does not have any vision in the transplanted eye, but the eye itself is still alive.
By Tanya Lewis
Cancer treatment has reached a new milestone with the development of an innovative method to destroy cancer cells using molecular jackhammers, offering hope for more targeted and efficient therapies.
This cutting-edge approach utilizes advanced molecular science to disrupt cancer cells in a way that could minimize harm to healthy tissue.
A collaborative team of scientists has found that stimulating aminocyanine molecules with near-infrared light causes them to vibrate in sync, producing enough force to effectively rupture the membranes of cancer cells without invasive procedures.
In the ongoing battle against cancer, a new AI approach is being explored that holds the potential to revolutionize the future of personalized cancer treatments.
The technology, which is an amalgamation of artificial intelligence, molecular dynamics simulations, and network analysis, aims to predict the binding sites on cancer-related proteins. This will pave the way for a faster development of treatments tailored for individual cancer patients.
The study was led by Dr. Rafael Bernardi, an associate professor of biophysics in the Department of Physics at Auburn University. As part of a collaborative effort with the University of Basel and ETH Zurich, the team is breaking barriers on how we understand and fight cancer.
Human lifespan is shaped by both genetic and environmental exposures and their interaction. To enable precision health, it is essential to understand how genetic variants contribute to earlier death or prolonged survival. In this study, we tested the association of common genetic variants and the burden of rare non-synonymous variants in a survival analysis, using age-at-death (N = 35,551, median [min, max] = 72.4 [40.9, 85.2]), and last-known-age (N = 358,282, median [min, max] = 71.9 [52.6, 88.7]), in European ancestry participants of the UK Biobank. The associations we identified seemed predominantly driven by cancer, likely due to the age range of the cohort. Common variant analysis highlighted three longevity-associated loci: APOE, ZSCAN23, and MUC5B. We identified six genes whose burden of loss-of-function variants is significantly associated with reduced lifespan: TET2, ATM, BRCA2, CKMT1B, BRCA1 and ASXL1. Additionally, in eight genes, the burden of pathogenic missense variants was associated with reduced lifespan: DNMT3A, SF3B1, CHL1, TET2, PTEN, SOX21, TP53 and SRSF2. Most of these genes have previously been linked to oncogenic-related pathways and some are linked to and are known to harbor somatic variants that predispose to clonal hematopoiesis. A direction-agnostic (SKAT-O) approach additionally identified significant associations with C1orf52, TERT, IDH2, and RLIM, highlighting a link between telomerase function and longevity as well as identifying additional oncogenic genes.
Our results emphasize the importance of understanding genetic factors driving the most prevalent causes of mortality at a population level, highlighting the potential of early genetic testing to identify germline and somatic variants increasing one’s susceptibility to cancer and/or early death.
The authors have declared no competing interest.
Every cell in our body contains the same DNA, yet liver cells are different from brain cells, and skin cells differ from muscle cells. What determines these differences? It all comes down to gene regulation; essentially how and when genes are turned on and off to meet the cell’s demands. But gene regulation is quite complex, especially because it is itself regulated by other parts of DNA.
Could buy patients more time to survive critical injuries and diseases, even when disaster strikes far from a hospital.
Donepezil, an FDA-approved drug to treat Alzheimer’s, has the potential to be repurposed for use in emergency situations to prevent irreversible organ injury, according to researchers at the Wyss Institute for Biologically Inspired Engineering at Harvard University.
Using donepezil (DPN), researchers report that they were able to put tadpoles of Xenopus laevis frogs into a hibernation-like torpor.
Food dye transformed the skin of mice into a living window revealing blood vessels, muscle fibers and gut contractions, according to a new study.
Scientists have discovered a protein that can directly halt DNA damage. Better yet, a new study shows it appears to be ‘plug and play’, theoretically able to slot into any organism, making it a promising candidate for a cancer vaccine.
DNA damage response protein C (DdrC) was found in a hardy little bacterium called Deinococcus radiodurans. DdrC seems to be very effective at detecting DNA damage, putting a stop to it and alerting the cell to start the repair process.
Continue reading “This ‘Holy Grail’ Protein Repairs DNA And Could Lead to a Cancer Vaccine” »
A novel method utilising genes in our body to perform long-sequence DNA recombination and editing, called the RNA bridge, has been discovered and reported by genetic engineers. ThePrint #̦PureScience, Sandhya Ramesh explains the findings and implications.
Sources and further reading:
Human lifespan is shaped by both genetic and environmental exposures and their interaction. To enable precision health, it is essential to understand how genetic variants contribute to earlier death or prolonged survival. In this study, we tested the association of common genetic variants and the burden of rare non-synonymous variants in a survival analysis, using age-at-death (N = 35,551, median [min, max] = 72.4 [40.9, 85.2]), and last-known-age (N = 358,282, median [min, max] = 71.9 [52.6, 88.7]), in European ancestry participants of the UK Biobank. The associations we identified seemed predominantly driven by cancer, likely due to the age range of the cohort. Common variant analysis highlighted three longevity-associated loci: APOE, ZSCAN23, and MUC5B. We identified six genes whose burden of loss-of-function variants is significantly associated with reduced lifespan: TET2, ATM, BRCA2, CKMT1B, BRCA1 and ASXL1. Additionally, in eight genes, the burden of pathogenic missense variants was associated with reduced lifespan: DNMT3A, SF3B1, CHL1, TET2, PTEN, SOX21, TP53 and SRSF2. Most of these genes have previously been linked to oncogenic-related pathways and some are linked to and are known to harbor somatic variants that predispose to clonal hematopoiesis. A direction-agnostic (SKAT-O) approach additionally identified significant associations with C1orf52, TERT, IDH2, and RLIM, highlighting a link between telomerase function and longevity as well as identifying additional oncogenic genes.
