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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under ...
In 2023, the first drug making use of CRISPR gene editing, Casgevy, was approved for use in the United Kingdom to cure sickle-cell disease and beta thalassemia. [ 13 ] [ 14 ] Casgevy was approved for use in the United States on December 8, 2023, by the Food and Drug Administration .
Mutations can involve the duplication of large sections of DNA, usually through genetic recombination. [10] These duplications are a major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years. [11] Most genes belong to larger gene families of shared ancestry, detectable ...
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations ...
Prion. A prion / ˈpriːɒn / ⓘ is a misfolded protein that induces misfolding in normal variants of the same protein, leading to cellular death. Prions are responsible for prion diseases, known as transmissible spongiform encephalopathies (TSEs), which are fatal and transmissible neurodegenerative diseases affecting both humans and animals ...
Sickle-cell versions of hemoglobin stick to themselves, stacking to form fibers that distort the shape of red blood cells carrying the protein. These sickle-shaped cells no longer flow smoothly through blood vessels, having a tendency to clog or degrade, causing the medical problems associated with this disease. [citation needed]
Stroke (also known as a cerebrovascular accident (CVA) or brain attack) is a medical condition in which poor blood flow to the brain causes cell death. [5] There are two main types of stroke: ischemic, due to lack of blood flow, and. hemorrhagic, due to bleeding.
A typical human cell contains about 150,000 bases that have suffered oxidative damage. [85] Of these oxidative lesions, the most dangerous are double-strand breaks, as these are difficult to repair and can produce point mutations, insertions, deletions from the DNA sequence, and chromosomal translocations. [86] These mutations can cause cancer ...