Genetics and Molecular Medicine Terms

An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections).

A signpost on a chromosome, useful because its position is known, whether or not it does anything at all.

An inherited increase in the risk of developing a disease.

Information about specific genes, including variations and gene expression, in an individual or in a certain type of tissue.

An inherited increase in the risk of developing a disease.

Genetic testing analyzes DNA to diagnose an inherited condition, determine carrier status, or clarify an inherited risk of developing a disease.

Most common illnesses do not follow the tidy patterns Mendel described, arising instead from many small genetic contributions acting alongside environment.

A genome is the full set of DNA instructions an organism carries, including genes and the sequences that regulate them.

A statistical trawl across all the chromosomes at once, finding where common variation tracks with a disease without being told where to look.

Information about all the genes in an organism, including variations, gene expression, and the way those genes interact with each other and with the environment.

This scientific field studies an organism's entire genetic material as a system, including how genes are organized, regulated, and interact with one another.

The DNA in germ cells (egg and sperm cells that join to form an embryo).

A gene change in a body's reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring.

A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands.

Guanine is one of the four nucleobases in DNA and RNA, pairing with cytosine to help form the genetic code's structure.

An enzyme that removes a small molecule called an acetyl group from histones (proteins found in chromosomes).

Bleeding is not faster than usual, only harder to stop, because the clot that forms is too fragile to hold.

Present from the first cell onward, even when nothing shows for decades, and never the same claim as present at birth.

A gene change in a body's reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring.

Families share more than genes, and separating the inherited from the merely shared is the harder half of reading a family history.