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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 .
Machine learning in bioinformatics is the application of machine learning algorithms to bioinformatics, [1] including genomics, proteomics, microarrays, systems biology, evolution, and text mining. [2][3] Prior to the emergence of machine learning, bioinformatics algorithms had to be programmed by hand; for problems such as protein structure ...
In patients with sickle cell disease, red blood cells, which are usually disk-shaped, take on a crescent or sickle shape. This change can cause cells to clump together, leading to clots and ...
The molecular disease concept put forward in the 1949 paper also became the basis for Linus Pauling's view of evolution. In the 1960s, by which time it had been shown that sickle cell trait confers resistance to malaria and so the gene had both positive and negative effects and demonstrated heterozygote advantage, Pauling suggested that ...
miRNA prediction and analysis. iSRAP[141] a one-touch research tool for rapid profiling of small RNA-seq data. SPAR[142] small RNA-seq, short total RNA-seq, miRNA-seq, single-cell small RNA-seq data processing, analysis, annotation, visualization, and comparison against reference ENCODE and DASHR datasets. miRDeep2.
Victoria Gray. Victoria Gray was the first patient ever to be treated with the gene-editing tool CRISPR for sickle-cell disease. [1] This marked the initial indication that a cure is attainable for individuals born with sickle-cell disease and another severe blood disorder, beta-thalassemia. [1]
The human disease sickle cell anemia is caused by a genetic mutation in the codon for the sixth amino acid of the blood protein beta-hemoglobin.The normal DNA sequence G-A-G codes for the amino acid glutamate, while the mutation changes the middle adenine to a thymine, leading to the sequence G-T-G (G-U-G in the mRNA).