Glossary of Terms

To agree to do something or to give permission.

One of the most commonly used forms of noninvasive ventilation, CPAP increases the pressure of the air in the lungs for the whole time someone is using the machine. This is helpful for people who have weak airways that get too small at times (as with obstructive sleep apnea).

A tightness in the muscles or tendons around a joint, which prevents the joint from moving the full amount. For example, a contracture in the knee can prevent the knee from straightening out or bending completely.

A small text file created by a website that is stored in the user's computer either temporarily for that session only, or permanently on the hard disk (persistent cookie). Cookies provide a way for the website to recognize you and keep track of your preferences.

A device that helps to clear secretions from the lungs by gradually applying positive air pressure to the airway and then rapidly shifting to negative air pressure

This is a type of protein which then protects the DNA from certain bacteria. It is heavily used in genetic engineering application or gene editing where the DNA can be cut and altered.

See CRISPR-associated protein 9 (Cas9)

Information that has been redacted to remove details that make it possible to recognize which particular person the information is connected with.

Molecular genetic testing to identify larger size deletions or duplications (typically between 40 basepairs and 40 Kilobases) of DNA within a gene. These methods typically do not detect smaller deletions or duplications of a few base pairs (which can be identified by other methods). Methods used include: array CGH; Multiplex Ligation-dependent Probe Amplification (MLPA); quantitative, real-time, or deletion-specific PCR; or Southern blot.

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. In a deletion mutation, one or more letters are removed. For example, if the E in THE was deleted, you would have THMANHASCATANDHAT. When the copying machinery would read it out by 3, it would no longer make sense THM ANH ASC ATA NDH AT.

A genetic mutation found in an affected individual that is not present in either parent.

A test to measure bone density or mineral loss as a result of mobility loss or aging

The specific name of a medical disorder.

A dimer is an oligomer consisting of two monomers joined by bonds that can be either strong or weak, covalent or intermolecular.

The genetic language. It is contained within the cell’s nucleus in the form of chromosomes. The DNA alphabet is made up of 4 different nucleotides, adenine, guanine, thymine and cytosine, abbreviated AGTC. The genetic language is “read” in triplets so AGT, CTA (much like you read off your credit card number in sets of four, DNA is sets of three). These codons or sets of three are first transcribed into RNA and then encode a particular amino acid that when put next to another amino acid forms a particular protein. Some sets of three represent stop signs or pauses in the reading frame. Sometimes a mutation (or change) in one letter of the DNA alphabet creates a stop sign where an amino acid should be coded. This is one example of a mutation called a nonsense mutation.