Date Time
Genetic study uncovers hidden pieces of eye disease puzzle
Scientists have taken a significant step forward in their search for the origin of a progressive eye condition which can cause sight loss.
A new study into keratoconus by an international team of researchers, including a Leeds group led by Chris Inglehearn, Professor of Molecular Ophthalmology in the School of Medicine, has for the first time detected DNA variations which could provide clues as to how the disease develops.
Keratoconus causes the cornea, the clear outer layer at the front of the eye, to thin and bulge outwards into a cone shape over time, resulting in blurred vision and sometimes blindness. It usually emerges in young adulthood, often with lifelong consequences, and affects on average 1 in 375, though in some populations this figure is much higher.
Gene variations Linked to Severe COVID-19 by Angela Mohan on February 23, 2021 at 12:02 PM
Around 4% of the population naturally lack the receptor named NKG2C, and in 30% of the population this receptor is only partially available, which could be responsible for severe COVID-19. The receptor communicates with an infected cell via one of its specialized surface structures, HLA-E.
The course and severity of COVID-19 in individual patients is largely influenced by the interaction between the SARS-CoV-2 coronavirus and the human immune system.
Normally, the antiviral immune response of natural killer cells (NK cells) is an important step in combating viral replication in the early phase of the infection.
A scanning electron micrograph of an oral squamous cancer cell (white) being attacked by two cytotoxic T cells (red), part of a natural immune response..
18) and quality trimmed by using Trimmomatic version 0.36 (
19). Viral contigs were generated by using default settings with Vicuna version 1.1 (
20), and a de novo consensus assembly was generated by using Viral Finishing and Annotation Toolkit (V-FAT) version 1.1 (https://www.broadinstitute.org/viral-genomics/v-fat). Read data are available from the National Center for Biotechnology Information Read Archive (https://www.ncbi.nlm.nih.gov) under BioProject accession no. PRJNA661611.
Phylogenetic Reconstruction
21) and IQ-TREE version 1.6 (
22). We then constructed a maximum-likelihood phylogenetic tree with 1,000 ultrafast bootstrap replicates (
HCV Transmission Network Analyses
We uploaded Illumina paired-end reads to GHOST and subjected them to automatic quality control criteria. In brief, read pairs were filtered out if a read had 3 Ns (N indicates that software was not able to make a basecall for this base) or a length 185 bp. Each identifier on forward and reverse reads