Glossary of Terms

Click on a word/phrase below to see its definition.

Ejection Fraction

Ejection Fraction

As measured during an echocardiogram, the blood present in the ventricle at the end of diastole and expelled during contraction of the heart.

 

Electrocardiogram (EKG/ECG)

Electrocardiogram (EKG/ECG)

An electrocardiogram (EKG or ECG) is a test that checks for problems with the electrical activity of your heart, showing the heart's electical activity as line tracing on paper; the spikes and dips in the tracings are called waves.

EMA

EMA

European Medicines Agency, a federal agency responsible for approving the trial and use of drugs and other interventions in the European Union

Encephalopathy

Encephalopathy

A broad term to describe any of a number of disorders or diseases of the brain.

Exon

Exon

An exon is the part of the gene that codes for the actual protein. On the chromosome the exons that make up the coding sequence for the protein are separated by introns. Upon reading of the gene, the cell cuts out the introns and puts the exons together (a process called splicing) so that the exons are now continuous with all the information necessary to make a protein. Mutations usually affect the information in exons or the way they are spliced together.

Genes have both noncoding (introns) and coding (exons) regions. The noncoding regions contain genetic information that gets cut out when the genetic information goes from DNA to RNA and is not integral to protein manufacture. Point mutations in the introns usually have no effect, unless they cause a shift in the reading frame through an insertion or deletion. Exons contain the actual genetic information that will be used to manufacture proteins. Point mutations, insertions, duplications and deletions all are types of mutations that change the genetic code and can lead to disease.

Failure to thrive

Failure to thrive

Infants or young children who are not growing or gaining weight as expected.

Fast Track

Fast Track

A designation by the FDA of an investigational drug for expedited review to facilitate development of drugs which treat a serious or life-threatening condition and fill an unmet medical need

Fast Track Status

Fast Track Status

A designation by the FDA of an investigational drug for expedited review to facilitate development of drugs which treat a serious or life-threatening condition and fill an unmet medical need

FDA

FDA

Food and Drug Administration, a federal agency responsible for approving the trial and use of drugs and other interventions in the United States.

Feeding Tube

Feeding Tube

A device implanted into the stomach or inserted via nose or mouth to the stomach for providing food, supplements or medication.

Fibroblast

Fibroblast

A cell in connective tissue that produces collagen and other fibers

Fibrosis

Fibrosis

The formation of scar tissue.

Forced Vital Capacity

Forced Vital Capacity

A  measure taken during Pulmonary Function Testing that indicates the maximal volume of gas that can be exhaled from full inhalation by exhaling forceful and rapidly.

Fractional Shortening

Fractional Shortening

As measured during an echocardiogram, like the ejection fraction, this is a measure of the heart's muscular contractility.

Frameshift Mutation

Frameshift Mutation

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. A frameshift mutation occurs when you either have a deletion, (one or more letters are removed) or an insertion (one or more letters are inserted). In the case of a deletion, 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. Similarly with an insertion, if two letters BX and were inserted after MAN, reading the genetic language in DNA would not make sense: THE MAN BXH ASC ATA NDH AT.