Glossary of Terms

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

Encephalopathy

Encephalopathy

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

Endoplasmic reticulum

Endoplasmic reticulum

The endoplasmic reticulum is a type of organelle made up of two subunits – rough endoplasmic reticulum, and smooth endoplasmic reticulum. The endoplasmic reticulum can either be smooth or rough, and in general its function is to produce proteins for the rest of the cell to function.

Endothelial cells

Endothelial cells

Endothelial cells form a single cell layer that lines all blood vessels and regulates exchanges between the bloodstream and the surrounding tissues. Signals from endothelial cells organize the growth and development of connective tissue cells that form the surrounding layers of the blood-vessel wall.

Epithelial cells

Epithelial cells

Epithelial cells are cells that come from surfaces of your body, such as your skin, blood vessels, urinary tract, or organs. They serve as a barrier between the inside and outside of your body, and protect it from viruses.

ER

ER

The endoplasmic reticulum is a type of organelle made up of two subunits – rough endoplasmic reticulum, and smooth endoplasmic reticulum. The endoplasmic reticulum can either be smooth or rough, and in general its function is to produce proteins for the rest of the cell to function.

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.

Extracellular matrix

Extracellular matrix

The extracellular matrix forms the outside environment around the muscle cell. It performs critical functions by supporting muscle cell stability and regeneration while allowing the muscle cell to adhere to the matrix.

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.