Glossary

A disease caused by a genetic mutation that affects less than 30 people in the world.

the branch of medicine that deals with the physiology and diseases of the kidneys.

Also called neurons. The fundamental cell of the nervous system. They are responsible for receiving sensory input from the external world, for sending motor commands to our muscles, and for transforming and relaying the electrical signals at every step in between.

The branch of medicine that deals with the diagnosis and treatment of disorders of the nervous system.

A molecule that forms part of the building blocks of DNA and RNA, and includes adenine, guanine, cytosine, thymine, and uracil.

A complex molecule that carries genetic information in the form of DNA or RNA, and plays a key role in protein synthesis and cellular function.

Nucleotides are the building blocks of nucleic acids like DNA and RNA. They consist of three components: a nitrogenous base, a pentose sugar, and a phosphate group. The nitrogenous base can be adenine, guanine, cytosine, or thymine in DNA, or uracil in RNA.

(1) An atoms central core, containing protons and neutrons. (2) The organelle of a eukaryotic cell that contains the genetic material in the form of chromosomes, made up of chromatin. (3) A cluster of neurons.

A mutation that results in either no gene product or the absence of function at the phenotypic level.