All of the exons in a genome, which consist of the DNA that contains the instructions to make proteins.

The part of a gene that has the instructions to make a protein.

An inherited condition that predisposes patients to early-onset colorectal cancer, and some other cancers.

When the sex cells (egg and sperm) meet and fuse together, combining the genetic material from mother and father and creating new life.

A slender, whip-like structure that enables protozoa, bacteria, sperm etc. to move around. 

The emission of light by a substance following exposure to light or radiation.

The unborn young of an animal still in the womb or egg. 

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.

A large group of organisms that includes yeasts, moulds and mushrooms. Fungi are distinct from plants, animals and bacteria because they have cell walls that contain chitin.

A male or female reproductive cell that contains half the genetic information for an organism. In humans the gametes are the sperm and egg cells. 

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”.  

This is when scientists identify the locations of different genes on specific chromosomes, a bit like pointing out key landmarks on a geographical map.

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 treatment of a disease by introducing modified DNA into the cells of the patient.

Advice given to patients, prospective parents or their relatives before and after being tested for 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.

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 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 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).

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.