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Autumn 2019 RARE Gene Therapy

Rare condition gene therapy

GENE Therapy glossary of terms

Adeno-associated virus (AAV): is a non-enveloped virus that can be engineered to deliver DNA to target cells.

Advanced therapy medicinal product (ATMP): is a medicinal product which is a) a gene therapy medicinal product b) a somatic cell therapy medicinal product c) a tissue engineered product.

Cardiomyopathy: is a disease of the heart muscle that makes it harder for your heart to pump blood to the rest of your body.

CRISPR)/Cas9: is a gene-editing technology causing a major upheaval in biomedical research. It makes it possible to correct errors in the genome and turn on or off genes in cells and organisms quickly, cheaply and with relative ease.

Exon: a segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence. Google search (dictionary) and

Exon skipping: is a form of RNA splicing used to cause cells to skip over faulty or misaligned sections of genetic code, leading to a truncated but still functional protein despite the genetic mutation. Google search and

Gene editing: also known as genome editing is the insertion, deletion or replacement of DNA at a specific site in the genome of 0   cell. This is usually achieved in the lab using engineered nucleases also known as molecular scissors. Google search

Gene knockdown: The alteration of a gene’s function so that it is conditionally expressed, a manoeuvre required when complete gene knockout would be lethal to the organism.

Gene silencing: Gene silencing is a means of downregulating (or ‘turning off’) particular genes by overexpression of RNA sequences, known as RNAi, preventing functional expression of a gene.

Gene therapy: Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery.

Glycogen: a substance deposited in bodily tissues as a store of carbohydrates. It is a polysaccharide which forms glucose on hydrolysis. (Oxford Dictionary)

Intracellular: located or occurring within a cell or cells. (Oxford Dictionary)

Lysosome: an organelle in the cytoplasm of eukaryotic cells containing degradative enzymes enclosed in a membrane. (Oxford Dictionary)

Myotonia: is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group.

Organelle: any number of organised or specialised structures within a living cell. (Oxford Dictionary)  

Pluripotent stem cells: are master cells. They’re able to make cells from all three basic body layers, so they can potentially produce any cell or tissue the body needs to repair itself. This master property is called pluripotency. Like all stem cells, pluripotent stem cells are also able to self-renew, meaning they can perpetually create more copies of themselves.

Retrovirus: a type of virus that uses RNA as its genetic material. After infecting a cell, a retrovirus uses an enzyme called reverse transcriptase to convert its RNA into DNA. The retrovirus then integrates its viral DNA into the DNA of the host cell, which allows the retrovirus to replicate.

RNA: is a type of nucleic acid called ribonucleic acid: RNA nucleotides are joined to form a single strand.

Vector: is an organism that does not cause disease itself, but which spreads infection by conveying pathogens from one host to another. Species of mosquito, for example, serve as vectors for the deadly disease Malaria.

Viral vectors: is the most effective means of gene transfer to modify specific cell type or tissue and can be manipulated to express therapeutic genes.

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