A (14 terms)Back to top
Genome-wide association studies (GWAS) are used to pinpoint variants associated with complex disorders or traits, which are caused by the interaction of multiple genetic and non-genetic factors.
B (9 terms)Back to top
A storage facility used to archive biological samples for use in research. Ranging in size from individual refrigerators to warehouses, biobanks are maintained by institutions such as hospitals, universities, nonprofit organizations, and pharmaceutical companies.
The industrial application of biological processes and living organisms to make products for human use, especially in medicine, agriculture and food science.
C (22 terms)Back to top
Cas enzymes originate in bacteria and as such a wide variety of types exist. Some are used for genome editing or editing RNA.
There are also versions that have been altered in the lab to perform specific tasks. Common examples include Cas9 which makes a double-stranded break in a target DNA sequence, and Cas13 which targets RNA.
Set up by the Health and Social Care Act 2012, CCGs are responsible for the commissioning of most hospital and community NHS services in local areas. CCGs replaced Primary Care Trusts from April 2013 and are overseen by NHS England. All GP practices now belong to CCGs.
Cells are the building blocks of all living things. A human body is made up of around 100 trillion cells (100 million million).
A research study in which new ways to prevent, detect, diagnose, or treat disease are tested on human participants.
Present from birth. A congenital condition may or may not have a genetic basis.
When two individuals share genetic material as the result of them being descended from a common ancestor, e.g. first cousins.
CVS (chorionic villus sampling) is a test carried usually carried out between the 11th and 14th week of pregnancy, in which a few cells of the placenta are removed for biochemical or genetic testing. This is most commonly to check a fetus for conditions such as Down’s syndrome and other chromosomal or genetic disorders.
D (16 terms)Back to top
A UK charity established in 1993 which supports donor-conceived people, their families, and people considering or undergoing donor-assisted conception treatment.
A name given in 2013 to a voluntary information and contact register that enables donor-conceived people, their donors and their half-siblings to exchange information and (where desired) contact one another. The register is for anyone over 18 who donated or was donor-conceived in the UK prior to August 1991.
An administrative reference number used by clinics to track the use of an individual donor's eggs or sperm. Some people use these codes to help them find genetic siblings, using contact networks and groups that aim to support donor-conceived people, their families, and donors. Whereas the USA's Donor Sibling Registry facilitates and confirms connections primarily by using donor codes, neither UK clinics nor the Human Fertilisation and Embryology Authority are currently permitted to release such codes. Instead, people who were donor-conceived in the UK can seek siblings via Donor Sibling Link.
A form which must be completed for all UK gamete donors, requiring information to confirm the donor's identity, physical characteristics, ethnic background and medical history. The donor can write a personal description (pen portrait/picture), provide their reasons for donating, and add a goodwill message. The non-identifiable information contained in this form can, upon request, be made available to patients requiring donation, to parents of children conceived with the donor's gametes, and to children conceived with the donor's gametes (once the latter reach the age of 16). When children conceived with the donor's gametes reach the age of 18, the full content of this form can be made available to them on request.
A US-based non-profit organisation established in 2000 which facilitates searching for, and establishing contact between, people who are genetically related as a result of gamete donation. It is open to a global membership of donor-conceived people, their families, and donors.
E (12 terms)Back to top
The science of changing a population, through the application of genetics, to increase the occurrence of chosen desirable heritable characteristics.
F (5 terms)Back to top
The Food and Drug administration is a US federal agency responsible for protecting public health. It is the body responsible for regulation and approval of drugs and other pharmaceutical products such as vaccines within the USA.
G (18 terms)Back to top
Gene expression is the process of converting the information contained in a gene into the gene product. The DNA of the gene is first transcribed into RNA, which is then either translated into a protein or remains as an RNA molecule. The expression level of a particular gene can be turned ’up’ or ‘down’ in different cells at different times, as required.
A patent on a specific gene sequence, its chemical composition, and/or processes for obtaining or using it.
A test that uses genetic analysis to diagnose or predict an illness or condition.
H (9 terms)Back to top
An international project that examined genetic variation in people from around the world, to speed the search for genes linked to common diseases. The scientists identified clusters of genetic variants - single nucleotide polymorphisms (SNPs) - that have been inherited together in a 'haplotype block' over many generations.
The extent to which a particular trait is inherited. Studies of heritability typically estimate the proportion of observed variation in a particular trait (for example, height) that can be attributed to inherited genetic factors in contrast to environmental ones.
A chemical messenger produced in the body, for example testosterone. Hormones can travel through the blood and have an effect elsewhere in the body.
I (10 terms)Back to top
Latin for 'within the living', referring to processes taking place within a living organism.
Creations of the mind to which individuals or organisations are granted exclusive rights, as defined in and protected by law. Those who are granted such rights are said to be the owners of the intellectual property.
A type of chromosome rearrangement in which a section of chromosome is removed, turned upside down, and reinserted back into its place in the chromosome.
IVF (in vitro fertilisation) is a treatment for infertility, in which eggs are removed from a woman's body, fertilised with sperm in a laboratory, then returned to the womb shortly afterwards to continue developing.
K (4 terms)Back to top
A gene mapping test used to identify genetic and chromosomal abnormalities in embryos.
The number, appearance and banding pattern subsequent to chemical staining, of chromosomes in the nucleus of a eukaryotic cell. Also used to describe the complete set of chromosomes in an organism.
A method for determining the number of chromosomes and detecting chromosomal abnormalities of an individual. Carried out by analysing a photograph of the chromosomes of a single cell cut out and arranged in pairs based on their size and banding pattern after chemical staining.
A knockout is a laboratory animal in which researchers have inactivated, or 'knocked out,' an existing gene by replacing it or disrupting it with an artificial piece of DNA.
L (2 terms)Back to top
A genetic technique used to track the inheritance of a genetic condition through a family, using genetic markers closely linked to the suspected disease gene.
M (18 terms)Back to top
The form of cell division by which egg and sperm cells are formed. Unlike normal cell division (mitosis), the number of chromosomes in the resulting cells is half that in the original cells.
A pattern of inheritance displayed by a trait under the control of one gene, akin to the patterns of inheritance described by the nineteenth-century scientist and priest Gregor Mendel.
Metastasis is the spread of cancer cells to new areas of the body. A metastatic cancer, or metastatic tumour, is one which has spread from the primary site into different areas of the body.
Micro RNAs are small, non-coding RNA molecules that regulate gene expression by suppressing the RNA pathway that translates genes into protein. They act like 'master switches', having the ability to control the activity of multiple genes.
An array of many different pieces of DNA, arranged on a small piece of glass, silicon or other solid material. Microarrays can be used to study thousands of different genes or genetic variations at the same time.
Also known as Mitochondrial Replacement Therapy (MRT) in some territories, mitochondrial donation allows an embryo to be created using the nuclear DNA of the intended parents, but using mitochondria (including mitochondrial DNA) from a donor egg or embryo. The procedure was developed to allow women with mitochondrial mutations have genetically related children while to avoiding passing on mitochondrial disease. Several techniques exist, including maternal spindle transfer (MST) where the nucleus is transferred from the mother's egg to an enucleated donor egg and then fertilised, and pronuclear transfer, where the nuclear material is transferred after fertilisation has taken place.
An unusual pattern of inheritance caused by mutations in genes found in the mitochondria. Mitochondrial genes are always maternally inherited, since sperm contribute no mitochondria to the fertilised egg.
The ordinary form of cell division, in which a cell divides to produce two new cells that both have the same number of chromosomes as the original cell.
The smallest particle of a substance that has all of the physical and chemical properties of that substance. Molecules are made up of two or more atoms - for example, a molecule of water is made up of two atoms of hydrogen and one of oxygen.
Involving, or controlled by a single gene. Monogenetic conditions include Huntington's disease and cystic fibrosis.
The presence of only one chromosome from a pair in an individual. With the exception of sex chromosomes (eg Turner syndrome), monosomies frequently have severe effects, usually resulting in early miscarriage.
The occurrence of two or more cell populations within a single tissue or individual, which have different genetic constitutions.
mRNA (messenger RNA) is an intermediate stage between a gene and the protein it codes for. The cell uses an mRNA template when making a protein, rather than reading the DNA code directly.
Genetic information located within mitochondria, the cell's energy generators, rather than in the nucleus. Mitochondrial DNA is inherited solely through the maternal line, as sperm contribute no mitochondria to the fertilised egg.
A change in the sequence of DNA. Mutations occurring in genes may prevent them from working properly, which might result in disease (a genetic disorder). Mutations occur naturally at a low rate, but can also be induced by radiation and some chemicals.
N (7 terms)Back to top
Neurodegenerative disease is an illness caused by the progressive loss of structure or function of neurons, including death of neurons for example motor neurone disease or Alzheimer's disease.
The National Health Service (NHS) is a publicly funded healthcare system in the United Kingdom.
A public body that develops and provides guidance to UK healthcare professionals and others, to ensure that the care they provide is of the best possible quality and offers the best value for money.
Noncoding DNA is a DNA sequence that does not encode ('code for') a protein or RNA molecule. These sequences may play a role in gene regulation or may be structural within the chromosome.
Nucleotides are the building blocks that make up DNA and RNA molecules. A single nucleotide consists of a nitrogenous base (adenosine, cytosine, guanine, or thymine in DNA), a phosphate group, and a sugar molecule.
The structure within a eukaryotic cell that contains the vast majority of its genetic information.
O (6 terms)Back to top
Unintended changes to a genome, away from the desired target site, which occur as a consequence of genome editing.
Ovarian hyperstimulation syndrome is a medical condition that can occur as a side effect of fertility treatment and IVF. It is often mild but can occasionally be severe and even fatal.
A mature female reproductive cell (egg cell), which contains half the genetic information needed to make a new human.
An artificially grown mass of cells or tissue that resembles an organ.
Cancer that forms in tissues of the ovary (one of a pair of female reproductive glands in which the ova, or eggs, are formed).
One of a pair of two female reproductive organs, which produce eggs and hormones.
P (23 terms)Back to top
A form of asexual reproduction where growth and development of embryos occur without fertilisation.
An embryo created through parthenogenesis.
A form of intellectual property. The owners of a patent are granted a temporary monopoly over an invention (a right to exclude others from making, using or selling it) in exchange for detailed public disclosure of the invention
A Primary Care Trust is an English National Health Service (NHS) organisation that provides some primary care (e.g. doctor's surgery/office) and some community (e.g. community nursing) services.
A diagram of the genetic relationships and medical history of a family, which uses standard symbols to represent affected and unaffected males and females.
The extent to which a mutation causing a particular disorder causes clinical symptoms of that disorder. This usually refers to autosomal dominant conditions.
An approach to medicine based on grouping patients according to the characteristics of their disease or how they respond to particular treatments (or to prophylaxis). This enables the identification and development of measures that are most effective for particular groups of patients.
PGS (preimplantation genetic screening) is a test that can be carried out on IVF embryos, to ensure that only embryos with no obvious chromosome conditions are returned to the woman's womb. Also known as PGT-A (Preimplantation Testing for Aneuploidy).
A group of techniques that look at the genetic material of embryos created through IVF. These include:
PGT-A: preimplantation genetic testing for aneuploidy – also known as PGS (preimplantation genetic screening)
PGT-SR: preimplantation genetic testing for structural chromosome rearrangements
An area of research that aims to develop ways of matching medicines to a person's genetic makeup, to avoid adverse reactions or non-response to particular drugs.
The physical characteristics of an organism, as distinguished from its genetic make up (genotype).
Describes a cell capable of developing into any type of cell or tissue except those that form a placenta or embryo.
A trait disorder is one affected by the combined effects of multiple different genes.
Genetic polymorphism (see also SNP and genetic variant) refers to a natural variation in a gene, piece of DNA, protein, or chromosome which may be associated with a particular trait or disease, or may have no effect on the development of the individual.
Increased likelihood of developing a particular disease due to carrying one or more gene mutations and/or having a family history that indicates an increased risk of the disease. Also called genetic susceptibility.
A biochemical, genetic or ultrasound test performed during pregnancy, to determine if a fetus is affected by a particular disorder.
A simple organism, usually single-celled, which lacks a cell nucleus and other membrane-bound compartments. All bacteria are prokaryotes.
Treatment given with the intention of preventing disease, before symptoms of disease appear.
Cancer that develops in the prostate (a gland that forms part of the male reproductive system).
A large biological molecule made up of a string of sub-units called amino acids. There are thousands of different proteins in the human body, each with a particular job. For example, haemoglobin carries oxygen around the blood.
R (6 terms)Back to top
A pattern of inheritance caused by a gene mutation that only has an observable effect if two mutated copies are inherited, for example, the mutations in the CFTR gene that cause cystic fibrosis.
The creation of new DNA molecules using fragments of DNA from different sources, which can be used to make genetically modified organisms.
The process by which two DNA molecules exchange genetic information. In meiosis exchange can take place between maternal and paternal chromosomes leading to a novel combination of genetic material in the egg or sperm.
RNA (ribonucleic acid) is created when DNA is transcribed. Like DNA, RNA contains the chemical bases adenine (A), cytosine (C) and guanine (G), but uses uracil (U) instead of thymine (T).
A naturally-occurring cell process that may be exploited as a way of selectively shutting down gene activity for therapeutic purposes. This involves injecting cells with short, specific pieces of RNA, which then trigger the breakdown of a particular messenger RNA molecule.
S (12 terms)Back to top
SCNT (somatic cell nuclear transfer) is a technique in which the genetic material from an egg cell is replaced with that of an adult or embryo body cell of the same animal species. Also known as cell nuclear replacement (CNR), or popularly as 'cloning'.
Assessing a group of people to determine who among them is at particular risk of having or transmitting a disease or health problem. In the context of UK gamete donation, screening of gamete donors is legally required, in order to assess the risk presented by HIV and Hepatitis B and C. Additional tests may be required depending on the donor's circumstances, in accordance with current professional guidelines.
The order of the chemical units (bases) along a piece of DNA or RNA.
One of the two chromosomes (X and Y) that determine the sex of an individual.
A disorder caused by a mutation in a single gene. For example, cystic fibrosis which is caused by mutations in the CTFR (cystic fibrosis transmembrane conductance regulator) gene.
An SNP (single nucleotide polymorphism) is a single chemical unit (base pair) variation in a stretch of DNA, present in more than 1% of the population. A common SNP is estimated to occur 1 in every 1000 base pairs between any two people.
Relating to genetic information that cannot be inherited by the next generation (all body cells apart from egg and sperm cells, and their precursors).
A mature male reproductive cell, which contains half the genetic information needed to make a new human.
An immature sperm cell, produced in the testis, which will develop into sperm. Like sperm, spermatids have half the genetic information necessary to produce offspring.
The removal of introns from the messenger RNA copy of a gene, so that only the gene exons are present in the final version.
A cell that can multiply and give rise to a variety of other, more specialised cell types. For example, stem cells in the bone marrow make many different blood cells.
The practice of bearing a child for another person or couple. In gestational (also known as 'full' or 'host') surrogacy, the surrogate carries an embryo conceived through IVF. In traditional (also known as 'partial' or 'straight') surrogacy, the surrogate's own egg is fertilised with the intended father's sperm.
T (12 terms)Back to top
Protective DNA-protein structure at the ends of linear chromosomes In most tissues, telomeres shorten every time a cell divides and copies its genetic information.
Able to disturb the growth and development of an embryo or fetus
The male reproductive organs, which produce sperm and hormones.
A popular name for the proposed use of embryo stem cells, derived using somatic cell nuclear transfer technology, to develop genetically-matched cell therapies for a range of diseases.
A test carried out to determine what combination of a particular set of genetic markers (termed HLA markers) a person has inherited. This procedure can be carried out on IVF embryos, to establish potential tissue compatibility for donating umbilical cord blood to a sibling.
A distinguishing characteristic or quality of an organism.
The process by which DNA is 'read' to produce messenger RNA molecules. The mRNA molecules then pass from the nucleus to the cell ribosomes, where they are used to build proteins.
A transcription factor is a protein that binds to a particular DNA sequence in order to control the rate at which a nearby gene is transcribed and expressed.
The transcriptome encompasses all of the RNA molecules in a sample - be that a whole organism or a single cell. It includes messenger RNA and noncoding RNA and can be different in different body tissues and at different times according to which genes are active when the sample is taken.
Describes a living thing that contains genes from another creature. Transgenic animals are bred in the laboratory, by genetically altering a newly fertilised egg.
The presence of an extra chromosome, resulting in a total of three chromosomes of a particular type instead of a pair - for example, trisomy 21, which causes Down syndrome.
A distinct mass of tissue which results from an abnormal growth or abnormal division of cells. Tumours are said to be cancerous if they tend to continue growing uncontrollably, and if they are thought to have the potential to spread to surrounding tissues.
X (4 terms)Back to top
One of two sex chromosomes that determine biological sex. Human females have two X chromosomes, whereas males have an X and Y chromosome.
The process by which one of the two X chromosomes present in females is randomly inactivated in the cells of the early embryo.
A pattern of inheritance in which a mutation in a gene on the X chromosome causes an observable effect (1) in males, who only have one copy of the gene mutation because they have only one X chromosome; and (2) in females who have two mutated copies of the gene, one copy on each of their two X chromosomes. Haemophilia is an example of a genetic condition with an X-linked recessive inheritance pattern.
The transplantation of living cells, tissues or organs from one species to another, for example the transplantation of animal organs into human patients.