Topic: Genetics

Genetics is the study of genes and hereditary. The genome is the entire collection of genes found in an organism. In people, almost every cell in the body contains a complete copy of the genome. The genome contains all the information needed for a person to develop and grow. Researchers can study the genome through […]

An inherited increase in the risk of developing a disease. People can inherit certain genetic changes that make them more likely to develop cancer, for example mutations in the BRCA1 and BRCA2 genes significantly increase the risk of breast and ovarian cancers (see BRCA1 and BRCA2). Most cancers are not linked to inherited gene changes. Hereditary cancer: Cancer that develops […]

A prediction of disease risk based on a person’s genetic information. This may include many different genetic changes and can be used alongside other risk factors, such as age, lifestyle or family history. See also risk, risk factor and genetics/genome.

A score that combines the effects of many small genetic variations to estimate a person’s risk of developing a disease, such as cancer. See also SNP, risk and genetics/genome.

Describes the activity of genes being “expressed” and turned into RNA and proteins. When the gene is turned on (i.e. expressed) a protein is made which exerts a specific function. See epigenetics.

A technology that enables scientists to make specific changes to DNA, which can alter traits. Scientists use different technologies to edit genes. These tools act like a molecular “cut and paste” system: DNA is cut at specific locations, and scientists can then remove, add, or replace DNA sequences. CRISPR is one type of gene editing […]

A gene is a section of DNA. Most genes carry instructions to make proteins, which are essential for the structure, function, and regulation of the body’s tissues and organs. These proteins influence traits such as hair colour, eye colour, and height, as well as the risk of developing certain diseases. Typically, many genes work together […]

Epigenetics is the study of how gene expression can be regulated in a way that is long-lasting but reversible, without changing the actual DNA sequence. Genes can be switched on and off through the addition or removal of chemical marks, known as epigenetic marks or signatures, these changes can affect a person’s risk of disease […]

Deoxyribonucleic acid (abbreviated DNA) is the molecule that carries the genetic instructions for the growth, development and functioning of most organisms, including humans. DNA is made up of smaller subunits called nucleotides, and each nucleotide consists of a sugar, a phosphate group and one of four bases: Cytosine [C] Guanine [G] Adenine [A] Thymine [T] […]

A thread-like structure made up of DNA, that is coiled around proteins called histones and contain genes. Chromosomes are found in all body cells (except red blood cells) and contain important instructions for the normal functioning of cells. Normal human cells contain 23 pairs of chromosomes, with a total of 46 chromosomes. (see ploidy)