Glossary of Terms

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

A

AspartylglucosaminuriaPlay

A rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU.

Sound File URLhttps://livingagu.wpengine.com/wp-content/uploads/Aspartylglucosaminuria.mp3
Autosomal

Inheritance characteristic where a gene is located on a numbered, non-sex chromosome. These are found on one of the 22 pairs of (44 total) autosomal chromosomes in a human body where DNA is stored. This is one of several ways that a trait, disorder or disease can be passed down through families. These chromosomes are not the sex (X or Y) chromosomes.

Source: 

Shiel, W. C. (2018, December 11). Definition of Autosomal. Retrieved June 6, 2019, from link.

Autosome

Any chromosome in a cell that is not an X or Y sex chromosome. The average person has 22 pairs of autosomes (44 autosomes in total) in each cell that define the genetic make-up, or DNA, of the being. These chromosomes store thousands of genes and they are inherited from the beings’ parents. In addition to the 22 pairs of autosomes (44 total), beings also have one pair (2 total) sex chromosomes (X and Y in a male, and X and X in a female).

Source: 

Shiel, W. C. (2018, December 4). Definition of Autosome. Retrieved June 6, 2019, from link.

Shiel, W. C. (2018, December 11). Definition of Autosomal. Retrieved June 6, 2019, from link.

Autosome – Definition and Function of Autosomes. (2017, April 28). Retrieved June 7, 2019, from link.

B

Benign variant

When a variant has no impact on health and is recognized as a neutral variant.

Source: 

What is a variant? (n.d.). Retrieved July 1, 2019, from link.

C

Clinical trial

A study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include both medications, treatments, or devices) that have the possibility of treating a disease in that particular patient group.

D

Demographics

Statistical characteristics of a human population (for example age or income) to help identify markets or segments.

Source: 

Demographic. (n.d.). Retrieved June 5, 2019, from link.

E

Enzyme

A protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell.

Source: 

Enzyme substrate complex. (n.d.). Retrieved June 5, 2019, from link.
Castro, J. (2014, April 26). How Do Enzymes Work? Retrieved June 5, 2019, from link.

G

Genetic disease

A disorder in a person’s structural and functional state that is caused by a change, or mutation, in an individual’s DNA sequence.  This mutation may be hereditary.

Source: 

What is a genetic disorder? (2014). Retrieved June 5, 2019, from link.

Glycoprotein

A molecule made up of a carbohydrate and a protein that plays an essential role in the body, particularly in the body’s immune responses.

Source: 

Glycoprotein. (n.d.). Retrieved June 5, 2019, from link.

Glycosylamine

A type of glycoside. A biochemical compound having a glycosyl group attached to an amino group. They are also known as N-glycosides.

Source: 

Moss, G., Smith, P. & Tavernier, D. (2009). Glossary of class names of organic compounds and reactivity intermediates based on structure (IUPAC Recommendations 1995). Pure and Applied Chemistry67(8-9), 1307-1375. Retrieved July 1, 2019, from link.

I

Incidence

The rate of new (or newly diagnosed) cases of a disease.

L

Likely pathogenic variant

A variant that was previously unreported but is likely expected to cause disease.

Source: 

What is a variant? (n.d.). Retrieved July 1, 2019, from link.

Lysosomal storage disorders

Inherited metabolic diseases that are characterized by an abnormal build-up of waste products in the body’s lysosomes caused by enzyme deficiencies. Nearly 50 of these disorders have been discovered, one of which is AGU, and these diseases lead to progressive physical and mental deterioration.

Source: 

Lysosomal Storage Disorders. (2006). Retrieved June 5, 2019, from link.
Greiner-Tollersrud, O. K., & Berg, T. (2013). Lysosomal storage disorders. Retrieved June 5, 2019, from link.
Lysosomal Diseases New Zealand. (n.d.). Retrieved June 5, 2019, from link.

Lysosomes

Specialized vesicles within cells that digest large molecules, breaking down excess waste products of the cell with the help of enzymes. Lysosomes may also be used to destroy invading viruses and bacteria.

Source: 

Lysosome. (n.d.). Retrieved June 5, 2019, from link.
Talking Glossary of Genetic Terms. (n.d.). Retrieved June 5, 2019, from link.

M

Mutation

A mutation is any inherited genetic change. The term “mutation” is being replaced by the term “variant.”

Source: 

Mutation (n.d.). Retrieved September 12, 2019, from link.

N

Natural history study (non-interventional study)

There are two types of natural history studies: prospective and retrospective. A natural history study examines a group of people who have a specific medical condition or disease or are at risk of developing one. A natural history is non-interventional and collects health information in order to understand how the medical condition or disease develops and how to possibly treat it. No treatment or investigational product is given. In a prospective study, this data collection is forward-looking and is done over time in the future. In a retrospective study, researchers review and examine factors related to an outcome in the past by looking back on past exposures and medical events.

Source: 

NCI Dictionary of Cancer Terms. (n.d.). Retrieved June 5, 2019, from link.
Pariser, A. R. Importance of natural history studies in rare diseases [PowerPoint slides]. Retrieved June 5, 2019, from link.

P

Pathogenic variant

A change in DNA that causes disease.

Source: 

What is a variant? (n.d.). Retrieved July 1, 2019, from link.

Prevalence

The total number of individuals in a population who have a disease or health condition at a specific period of time, usually expressed as a percentage of the population.

Prospective study

A natural history study that reviews subjects over a forward-looking length of time to observe for outcomes in the development of a disease.

R

Retrospective study

A natural history study that reviews and examines factors related to an outcome in the past by looking back on past exposures and medical events.

T

Tonsillectomy

A surgery to remove the tonsils to protect against recurring tonsil infections.

Source: 

Tonsillectomy. (2019, June 03). Retrieved June 5, 2019, from link.

U

Uncertain significance

A gene variant that is previously unreported and is of the type which may or may not be causative of the disorder.

Source: 

What is a variant? (n.d.). Retrieved July 1, 2019, from link.

V

Variant

A variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.”

Source: 

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L. (2015, May). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 17(5), 405-24. Retrieved September 12, 2019, from link.