Cells: The building blocks of the body. The body is made up of many different types of cells for example, eye cells, skin cells and blood cells.
Chromosomes: Thread-like structures that hold all the genes. Except for sperm and egg cells, each human cell carries 23 pairs of chromosomes. In total, each person’s cells have 46 chromosomes, 23 come from the mother and 23 come from the father.
DNA: A molecule that contains our genetic information.
Family Tree: A drawing that shows the different members of a family, their relationships to one another and any medical conditions that they might have. By looking at the patterns present within the family tree, a medical professional can see whether a genetic condition might run in the family.
Gene: A piece of DNA that serves as the instructions to tell the cells of the body how to function. Most cells of the body have 2 copies of each gene, one passed down (inherited) from the mother and one from the father.
Genetics: The study of specific genes and their effects on health and development.
Genome: The entire set of genes. Human cells carry around 20,000 different genes.
Genomics: The study of the entire set of genes and their effects on health and development.
Genetic counselor: A specially trained health care professional who helps patients and families understand how genetics and genomics impact their health and development.
Genetic predisposition: An increased chance to develop a certain condition because a change (mutation) is present in one or more genes within the body’s cells.
Hereditary: Passed down from one generation to the next within a family.
Informed consent: A discussion of the risks, benefits and limitations of undergoing a test such as a genetic test or taking part in a research study.
Mutation: A change in a gene that prevents it from functioning properly.
Research: A scientific way to examine a problem, answer a question or gain new information.