Genetics and Molecular Medicine Terms

Every sensor answers exactly one question, so a reading that looks wrong is as likely to reflect the sensor as the patient.

A blood test that measures the amount of substances called tumor markers (or biomarkers).

A rare, inherited disorder in which the pancreas and bone marrow do not work the way they should.

An inherited fault in assembling ribosomes that starves the pancreas and the marrow of machinery they need more than most tissues.

An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells.

One letter changed in a hemoglobin gene is enough to stiffen red cells into crescents that jam small vessels and break up early.

Millions of these single letter differences dot every genome, and only a small share change how a gene or its protein behaves.

A DNA change acquired during life in one ordinary body cell, passed to its descendants but never to a child.

This term names abnormal squamous cell changes on the cervix, graded as low or high grade depending on severity and extent.

The enzyme that rebuilds chromosome ends, switched off in most adult tissue and switched back on in the great majority of cancers.

Telomeres are protective caps of repetitive DNA at chromosome ends that shorten with each cell division, limiting how many times a cell can divide.

The one building block that belongs to DNA alone, and a convenient handle for tracking which cells are dividing.

A protein involved in making and repairing DNA (molecules inside cells that carry genetic information and pass it on from parent to child).

A drug that blocks DNA synthesis and may prevent tumor cell growth.

A chemical compound that is used to make one of the building blocks of DNA.

A gene therapy product that is being studied in combination with radiation therapy in the treatment of cancer.

A substance that blocks topoisomerases (enzymes that break and rejoin DNA strands and are needed for cells to divide and grow).

Copying a gene into RNA is the step where a cell decides which of its instructions to act on and how loudly.

A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in…

A rare, inherited disorder that affects the endocrine glands and can cause tumors in the parathyroid and pituitary glands and the pancreas.