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Health professionals who inform and support people faced with the possible diagnosis of a genetic disease. They help patients to understand the disorder, the likelihood of developing or transmitting it, and how it could be managed.
A disease that is caused by a change in an individual’s DNA (also known as a genetic disorder).
A disease that is caused by a change in an individual’s DNA (also known as a genetic disease).
Refers to the direct manipulation of genes to alter an individual’s characteristics (phenotype) in a particular way.
Genetic screens are carried out to check for certain gene variants that could potentially increase the risk of disease in an individual.
A tool for identifying changes in DNA that could increase the risk of developing a disease.
This is differences in DNA. Variation between individuals in their DNA is what makes them different.
A letter or region of a gene that is different in different individuals. The most common gene variants are single nucleotide polymorphisms (SNPs) where a single DNA base is altered. There can be numerous variants for any given gene.
A plant used in agriculture that has had its DNA changed by genetic engineering/modification.
Food produced from a plant or animal that has had its DNA changed by genetic engineering/modification.
An organism that has had its genome changed by direct manipulation of its genes in a way that does not happen normally in nature.
The study of genes and how certain characteristics are passed from one generation to the next.
An organism’s complete set of genetic instructions. Each genome contains all of the information needed to build that organism and allow it to grow and develop. Our genome is approximately 3,000,000,000 base pairs long and is packaged into 23 pairs of chromosomes.
A technique used to precisely and efficiently modify DNA within a cell. It can be used to add, remove, or alter DNA in the genome.
A study that compares areas of the genome that commonly vary in different individuals to see if they are associated with a particular disease or characteristic.
The study of the structure and function of genomes.
The genetic makeup of a cell, organism or individual.
The process of determining the genetic makeup (genotype) of an individual by examining their DNA.
The cells that develop into sperm and eggs.
The genetic material being passed from generation to generation through the germ cells (sperm and egg).
One of the four nucleotide bases that make up DNA, pairs with cytosine.
A protein that carries oxygen so as it can be transported around the body in our red blood cells.
The circulatory ‘tissue’, otherwise known as the blood and lymph.
Disorder characterised by slow and inefficient formation of blood clots leading to prolonged bleeding and spontaneous internal bleeding.
Term given to a cell with only one set of chromosomes, for example, the sex cells (sperm and egg).
A condition when the heart can no longer pump enough blood around the body. It usually occurs when the heart muscle has become too weak or stiff to work efficiently.
Key enzyme involved in DNA replication, it is responsible for ‘unzipping’ the double helix structure by breaking the hydrogen bonds between bases on opposite strands of the DNA molecule.
A type of chemical used to kill unwanted plants.
Also known as iron overload disease, it is an inherited disorder in which iron accumulates in the blood because too much is absorbed by the intestines.
A rare condition, but the most common inherited syndrome that predisposes people to early-onset colorectal cancer.
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