Below is a list of research terms that might be useful to reference when listening to science presentations at the ALS TDI Summit.

Amino acid: Amino acids are the building blocks used by cells, including motor neurons, to create proteins. Just as the letters of the alphabet can be combined to form an almost endless variety of words, amino acids can be linked together to form a vast variety of proteins.

Assay: A test carried out in the laboratory to determine the presence, quantity, or activity of a specific substance in a biological sample or animal.

Biologic: Treatments that are derived from a living organism, either directly harvested or grown in a laboratory. They are much more chemically complex than small molecule drugs – and thus are very difficult, or, at times, impossible, to produce synthetically. Vaccines, stem cell treatments, and monoclonal antibodies are all forms of biologics.
Example: Humira (Antibody), Enbrel (fusion protein), Herceptin (Antibody)

Challenge: In drug development, introducing a stressor to a cellular model of disease in order to study its effects.
Example: Exposing motor neurons in a petri dish to a toxic protein.

Characterization: A laboratory method that is used to learn about the genes in an animal or in a specific cell type, and the way those genes interact with each other and with the environment. Example: When scientists create a new mouse model by introducing a gene mutation, the mice are observed over their lifetimes. Differences from the non-mutated mice are noted, such as lifespan, gait abnormalities, and coat color.

CMAP (compound muscle action potential): A technique for measuring the muscle function of an animal by stimulating the muscle with an electrical signal and measuring its response.

Cohort: In medicine, a cohort is a group that is part of a clinical trial or study and is observed over a period of time.

DNA: The material, contained within the cells of all living things, that contains their genetic information. Smaller components of DNA are known as “genes” and carry the genetic instructions for the development, functioning, growth, and reproduction of an organism.

Gene expression: Primarily*, the process by which the information encoded in a gene is used to make RNA molecules that contain the codes a cell uses to produce particular proteins. Scientists can study the genes themselves (DNA) and/or the gene expression (RNA or Protein), each type of data adding to the understanding of the biological processes of the system.
Example: A mutation could cause a gene to overexpress, creating an excess of a particular protein and disrupting the normal function of a cell. *Genes also make non-coding RNAs that serve functions other than making protein.

In vivo: A study, such as testing potential drugs, performed in an animal.

In vitro: A study performed in cells or microorganisms outside of their natural contexts, such as in a test tube or a petri dish.

Model: A model replicates the biological conditions of a human disease in a smaller, less complex system. These can include individual cells as well as animals such as zebrafish, fruit flies, or mice. Using models allows researchers to test potential treatments to gain an understanding of their safety and efficacy before they are tested in humans.

Motor neurons: Cells in the brain and spinal cord that control the body’s movements. ALS is a disease that leads to the degeneration and death of these motor neurons.

Peptide: Chains of connected amino acids. Proteins are made up of several of these connected peptide chains.

Peripheral Nerves/neurons: The nervous system outside the brain and spinal cord that carries signals from the brain to the muscles throughout the body. Example: The nerves in your hands that tell your fingers to move.


Phenotype: A phenotype refers to any observable characteristics of a living organism. The term covers the organism's physical traits like eye or hair color, its developmental processes, its biochemical and physiological properties, and its behavior.
Example: Eye color or height. In biological science, how an organism responds to a chemical challenge – survival or death.

Phenotyping: The process of determining, analyzing, and categorizing an organism according to its phenotypic properties.
Example: Studying animal models of ALS to determine if they display symptoms of the disease or how quickly their disease progresses.

Plate (Microplate): Tiny test tubes or vials affixed together on a solid frame. (Picture a tiny egg carton). A microplate typically has 6, 12, 24, 48, 96, 384, or 1536 sample wells arranged in a 2:3 rectangular matrix. Used to rapidly test drugs, often in automated machines. Many cell experiments are carried out on microplates.

Protein: Large, complex molecules that play many critical roles in the body. They are responsible for most of the functions in the body’s cells and are required for the structure, function, and regulation of the body's tissues and organs.

Protein translation: The process by which a cell reads the code contained in Messenger RNA, using this information to produce proteins.

Rescue: In drug development, when a treatment or other intervention relieves the effects of a stressor or other disease process in an experiment.
Example: In an experiment, a promising drug candidate may rescue a motor neuron from the toxic effects of a stressor.

RNA: A molecule that is primarily responsible for copying the genetic instructions contained in DNA and carrying them to other parts of the cell, where that information is decoded and used to produce proteins.

Sporadic: A phenomenon that occurs randomly or in irregular intervals. In ALS, this refers to the 90% of cases in people with no family history of the disease.

Small molecule drug: A drug consisting of an organic compound with a low molecular weight, often synthesized in a lab. These small compounds are often able to enter cells more easily than larger molecules. The most common drugs on the market are small molecules. Example: Tylenol, Fluoxetine (Prozac), penicillin

Throughput: The amount of material able to pass through a system over time.
Example: A “high throughput” experiment is able to test many samples at a rapid pace.

Transcription: The process by which a cell makes an RNA copy of a piece of DNA. This RNA copy, called messenger RNA (mRNA), carries the genetic information needed to make proteins in a cell.

Transgenic: An organism that has been modified to contain genetic material from another, unrelated organism.
Example: A transgenic animal model of ALS that has been modified to contain a human ALS-related genetic mutation, such as SOD1.

Stressor: A substance, such as a protein, that disrupts the normal function of a biological process in the body.
Example: Chemicals, heat, removal of an essential element

Wild Type – A gene or animal found in its natural, non-mutated form. Example: A wild mouse, as opposed to a transgenic mouse that has been modified with a mutated ALS-related gene. An unmutated C9orf72 gene in a healthy person, as opposed to a C9orf72 gene with a repeat-expansion mutation in someone with C9-related ALS.