• Glossary

Glossary

ABCR gene

A gene which produces a protein involved in energy transport to and from photoreceptor cells in the retina. Mutations in the ABCR gene, which cause Stargardt disease, produce a dysfunctional protein that cannot perform its transport function. As a result, photoreceptor cells degenerate and vision loss occurs.

AIDS

Aquired Immune Deficiency Syndrome. A disease of the immune system caused by infection with the retrovirus HIV, which destroys some types of white blood cell and is transmitted through blood or bodily secretions such as semen. Patients lose the ability to fight infections, often dying from secondary causes such as pneumonia or Kaposi's sarcoma.

Antigen

Any substance that causes your immune system to produce antibodies against it. An antigen may be a foreign substance from the environment such as chemicals, bacteria, viruses, or pollen. An antigen may also be formed within the body, as with bacterial toxins or tissue cells.

Anti-angiogenic

A chemotherapy adjuvant which inhibits the angiogenesis required for tumour growth and survive, especially for metastastatic tumors.

Antibody

A protein produced by B cells in the body in response to the presence of an antigen, e.g. a bacterium or virus. Antibodies are a primary form of immune response in resistance to disease and act by attaching themselves to a foreign antigen and weakening or destroying it.

Bilateral

Affecting both right and left sides of the body or the right and left portions of an organ.

Biopharmaceuticals

Medical drugs produced using biotechnology. They are proteins (including antibodies), nucleic acids (DNA, RNA or antisense oligonucleotides) used for therapeutic or in vivo diagnostic purposes, and are produced by means other than direct extraction from a native (non-engineered) biological source.

Cancer

A malignant tumour or growth caused when cells multiply uncontrollably, destroying healthy tissue. The different forms are sarcomas, carcinomas, leukaemias, and lymphomas.

Chronic

Long-lasting or recurrent.

Colorectal cancer

A term that is used to refer to cancer that develops in the colon or the rectum. These cancers are sometimes referred to separately as colon cancer or rectal cancer, depending on where they start.

Cone rod dystrophy

An inherited ocular disorder characterised by the loss of cone cells, the photoreceptors responsible for both central and color vision.The most common symptoms of cone dystrophy are vision loss, sensitivity to bright lights, and poor colour vision.

Congenital

Pertaining to a condition present at birth, whether inherited or caused by the environment, especially the uterine environment.

Cornea

The transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power.

Corneal graft rejection

The specific immunologic response of the host to the donor corneal tissue following corneal transplantation.

Dopamine

A chemical compound occurring in the brain which is a neurotransmitter. It is also a precursor of adrenaline.

Dose

A measured portion of medicine taken at any one time.

Dyskinesia

The effects of diminished voluntary movements and presence of involuntary movements.

Efficacy

Quantitative measurement of the effectiveness of a drug or a treatment in disease intervention.

Enzyme

An efficient catalyst for biochemical reactions. They speed up reactions by providing an alternative reaction pathway of lower activation energy.

Gene delivery

The process of introducing foreign DNA into host cells. There are many different methods of gene delivery developed for a various types of cells and tissues, from bacterial to mammalian. Generally, the methods can be divided into two categories, viral and non-viral. Virus mediated gene delivery utilises ability of a virus to inject its DNA inside a host cell. A gene that is intended for delivery is packaged into a viral particle. Non-viral methods include physical methods such as microinjection, gene gun, impalefection, hydrostatic pressure, electroporation, continuous infusion, and sonication and chemical, such as lipofection. It can also include the use of polymeric gene carriers (polyplexes).

Genetic engineering

A process of inserting new genetic information into existing cells in order to modify a specific organism for the purpose of changing one of its characteristics

Genomics

The study of gene structure; the identification and study of gene sequences in the DNA of organisms.

Gene therapy

An experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including: 1 Replacing a mutated gene that causes disease with a healthy copy of the gene. 2 Inactivating, or 'knocking out,' a mutated gene that is functioning improperly. Introducing a new gene into the body to help fight a disease.

Hepatitis B

A sometimes recurring or fatal form of hepatitis that is caused by a virus and transmitted through contact with infected blood, blood products, and bodily fluids.

Heterologous vector

When the target species of the vaccine is not one of the natural hosts for the vector, the vector is classified as a heterologous vector.

HIV

Human Immunodeficiency Virus.Either of two strains of a retrovirus, HIV-1 or HIV-2, that destroys the immune system's helper T cells, the loss of which causes Aids.

Idiopathic Parkinson's disease

Parkinson's disease is a progressive degenerative disease of the nervous system which eventually leads to disability. Idiopathic parkinsonism refers to the presence of a characteristic constellation of symptoms, tremor, rigidity, bradykinesia and impairment of righting reflexes and pathologic changes, including the loss of pigmented neurons and the presence of Lewy bodies in the substantia nigra with no identifiable cause.

Immunotherapy

A medical treatment to stimulate a patient's immune system to attack and destroy disease-causing cells.

Immune response

The reaction of the immune system to foreign substances in the body.

Lentivirus

A virus of the genus Lentivirus and the family Retroviridae that causes diseases with a long latent period and a slow, progressive course.

Lou Gehrig's disease

Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the nervous system (a neurodegenerative disease) of unknown cause that affects the nerves responsible for movement. It is also known as motor neuron disease and Lou Gehrig's disease, after the baseball player whose career it ended.

Macula

An oval-shaped highly pigmented yellow spot near the center of the retina of the human eye.

Melanoma

A malignant tumour, most often on the skin, that contains dark pigment and develops from a melanin-producing cell melanocyte.

Metastasis

The spread of a cancer from the original tumour to other parts of the body by means of tiny clumps of cells transported by the blood or lymph.

MYO7A gene

A member of the myosin gene family. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterised by deafness, reduced vestibular function, and (in human) retinal degeneration.

Monoclonal antibodies

Antibodies that are identical because they are produced by one type of immune cell that are all clones of a single parent cell. Given almost any substance, it is possible to create monoclonal antibodies that specifically bind to that substance; they can then serve to detect or purify that substance.

Motor Neurone Disease (MND)

A progressive neurodegenerative disease that attacks the upper and lower motor neurones. Degeneration of the motor neurones leads to weakness and wasting of muscles, causing increasing loss of mobility in the limbs, and difficulties with speech, swallowing and breathing.

Neurodegenerative disease

A condition in which cells of the brain and spinal cord are lost. The brain and spinal cord are composed of neurons that do different functions such as controlling movements, processing sensory information, and making decisions. Cells of the brain and spinal cord are not readily regenerated en masse, so excessive damage can be devastating. Neurodegenerative diseases result from deterioration of neurons or their myelin sheath which over time will lead to dysfunction and disabilities resulting from this.

Ocular

Of or relating to or resembling the eye.

Onco-foetal antigens

Proteins which are typically present only during foetal development but are found in adults with certain kinds of cancer. These proteins are often measurable in the blood of individuals with cancer and may be used to both diagnose and follow treatment of the tumors.

Pancreatic cancer

Cancer of the pancreas. It is a long gland which lies just below the stomach in the abdomen, which produces a number of different digestive enzymes and hormones. There are several different types of pancreatic cancer, and a tumour tends to develop silently, causing few symptoms and signs which might provide a clue to its presence until disease is well advanced. Pancreatic cancer is equally common in men and women, but the majority of cases occur in the over-70s.

Photoreceptor

A photosensitive cell, most commonly referring to a specialized type of neuron found in the retina of vertebrate eyes that is capable of phototransduction.

Plasmid DNA

A small, mobile piece of DNA found in bacteria that, for example, confers antibiotic resistance, used in genetic engineering. Plasmids are separate from the bacterial chromosome but still multiply during cell growth. Their size ranges from 3% to 20% of the size of the chromosome.

Prodrug

An inactive form of a drug that is converted into an active form in the body by a chemical reaction in the digestive tract. Used in chemotherapeutic agent targeting cancer cells.

Prostate cancer

Cancer of the prostate, which is only found in men and is usually the shape and size of a walnut. It lies underneath the bladder and surrounds the tube (urethra) that men pass urine and semen through. The prostate gland's main job is to make most of the fluid that carries sperm, called semen.

Reagent

A substance taking part in a chemical reaction, especially one used to detect, measure, or prepare another substance

Renal cancer

The most common type of kidney cancer. It begins in the lining of the renal tubules in the kidney. The renal tubules filter the blood and produce urine. Also called hypernephroma.

Retina

A light-sensitive membrane in the back of the eye containing rods and cones that receive an image from the lens and send it to the brain through the optic nerve

Retinitis pigmentosa (RP)

The name given to a group of inherited diseases of the retina that all lead to a gradual progressive reduction in vision. Difficulties with night vision and peripheral vision are the first things that are noticed. Later, reading vision (detailed vision) and colour vision are affected.

RNA-i

A system within living cells that helps to control which genes are active and how active they are. Two types of small RNA molecules - microRNA (miRNA) and small interfering RNA (siRNA) - are central to RNA interference. RNAs are the direct products of genes, and these small RNAs can bind to specific other RNAs and either increase or decrease their activity.

Somatic

Cells of the body, rather than gametes (eggs or sperm).

Stargardt's Disease

The most common form of inherited juvenile Macular Degeneration. The disease not only causes the loss of central vision but also affects colour vision.

Stereotactic injection

A procedure in which a computer and a 3-dimensional scanning device are used to inject anticancer drugs directly into a tumor.

Striatum

A collective term for the caudate nucleus and putamen; involved in the initiation of willed movements of the body; plays a role in procedural memory.

Therapy or treatment

The attempted remediation of a health problem, usually following a diagnosis. In the medical field, it is synonymous with the word "treatment".

Therapeutic

Of or relating to the treatment of disease or disorders by remedial agents or methods.

Transgenesis

Integration into a living organism of a foreign gene that confers upon the organism a new property that it will transmit to its descendents.

Tuberculosis

An infectious disease that causes small rounded swellings tubercles to form on mucous membranes, especially a disease pulmonary

Usher syndrome

The most common condition that affects both hearing and vision. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina.

Vector

In molecular biology, a vector is any vehicle used to transfer foreign genetic material into another cell.

Wet age-related macular degeneration

When abnormal blood vessels behind the retina start to grow under the macula. These new blood vessels tend to be very fragile and often leak blood and fluid. The blood and fluid raise the macula from its normal place at the back of the eye. Damage to the macula occurs rapidly.