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A progressive neurodegenerative disorder, caused by a mutation in a single gene called huntingtin (HD), which usually develops in middle to late adult life. The mutation results in neuronal cell death in select areas of the brain and causes uncontrollable muscle spasms.
The body’s chemical messengers, carried in the bloodstream to tissues or organs. Important in many processes in the body, from reproduction to development.
An individual who carries two of the same alleles for a certain gene.
A protein found in the nucleus of eukaryotic cells, which is involved in packaging DNA into structural units called nucleosomes.
An individual who carries two different alleles for a particular gene.
An organism that has both male and female reproductive organs.
A rare condition, but the most common inherited syndrome that predisposes people to early-onset colorectal cancer.
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.
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.
Term given to a cell with only one set of chromosomes, for example, the sex cells (sperm and egg).
Disorder characterised by slow and inefficient formation of blood clots leading to prolonged bleeding and spontaneous internal bleeding.
The genetic material being passed from generation to generation through the germ cells (sperm and egg).
The cells that develop into sperm and eggs.
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.
This is differences in DNA. Variation between individuals in their DNA is what makes them different.
A tool for identifying changes in DNA that could increase the risk of developing a disease.
Genetic screens are carried out to check for certain gene variants that could potentially increase the risk of disease in an individual.
Refers to the direct manipulation of genes to alter an individual’s characteristics (phenotype) in a particular way.
A disease that is caused by a change in an individual’s DNA (also known as a genetic disease).
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.
Advice given to patients, prospective parents or their relatives before and after being tested for a genetic disease.
This is when scientists identify the locations of different genes on specific chromosomes, a bit like pointing out key landmarks on a geographical map.
The treatment of a disease by introducing modified DNA into the cells of the patient.
This involves ‘knocking out’ a gene sequence from a genome and replacing it with an alternative gene sequence that has been generated in the lab.
The process of making a functional product from the instructions in our DNA. The amount of functional product produced is referred to as the “level of expression”.
An inherited form of intellectual disability caused by changes to the DNA sequence in the Fragile X mental retardation 1 (FMR1) gene on the X-chromosome.
When the sex cells (egg and sperm) meet and fuse together, combining the genetic material from mother and father and creating new life.
An inherited condition that predisposes patients to early-onset colorectal cancer, and some other cancers.
The part of a gene that has the instructions to make a protein.
Adaptation based on the process of natural selection. Successful organisms survive and reproduce while unsuccessful ones die off.
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