Glossary

The Committee at n-Lorem that reviews proposals from physicians to treat genetically confirmed nano-rare disease patients.

A suspension of fine solid or liquid particles in gas. In medicine, aerosols can be used to administer drugs.

One of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

The building blocks of proteins, consisting of organic compounds containing an amino group and a carboxyl group.

A chemical substance that is the subject of chemical analysis.

Short, synthetic, single-stranded oligodeoxynucleotides that can alter RNA and reduce, restore or modify protein expression through several distinct mechanisms.

Chemicals that are produced by living organisms and are involved in various metabolic processes.

The manipulation of organisms or their components to produce useful products.

The center of the nervous system, responsible for thought, emotion, and control of body functions.

A closed circulatory system with a heart and branching network or arteries, capillaries, and veins.

A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient.

The smallest unit that can live on its own and that makes up all living organisms and the tissues of the body.

The portion of the nervous system where signal integration occurs; In vertebrate animals, the brain and spinal cord.

A substance made up of elements, such as hydrogen or sodium.

Chemical networks refer to the complex systems of chemical reactions that occur within living organisms. These reactions involve the formation and breaking of chemical bonds and are essential for all biological processes.

A cellular structure consisting of one DNA molecule and associated protein molecules. (In some contexts, such as genome sequencing, the term may refer to the DNA alone).

An establishment or hospital department where outpatients are given medical treatment or advice, especially of a specialist nature.

A three-nucleotide sequence of DNA or mRNA that specifies a particular amino acid or termination signal; the basic unit of the genetic code.

The presence of two different mutated alleles at a particular gene locus.

The contents of the cell bounded by the plasma membrane.

A unit of mass used to express the molecular weight of proteins, nucleic acids, and other large molecules. One Dalton is defined as one-twelfth of the mass of a carbon-12 atom.

A disease in which the structure or function of the effected tissues or organs changes for the worse over time.

A nucleic acid molecule, usually a double-stranded helix, in which each polynucleotide strand consists of nucleotide monomers with a deoxyribose sugar and the nitrogenous base adenine (A), cytosine (C), guanine (G), and thymine (T); capable of being replicated and determining the inherited structure of a cell’s proteins.

The process of identifying a disease, condition, or injury from its signs and symptoms.

A disorder of structure or function in a human, animal, or plant.

In medicine, a disturbance of normal functioning of the mind or body.

A quantity of medicine or drug taken or recommended to be taken at a particular time.

A graph representing the dose versus the dose-relationship.

Any substance (other than food) that is used to prevent, diagnose, treat, or relieve symptoms of a disease or abnormal condition. Drugs can also affect how the brain and rest of the body work and cause changes in mood, awareness, thoughts, feelings, or behavior.

The half-maximal effective concentration.

The midpoint of a dose response curve.

An enzyme which cleaves a polynucleotide chain by separating nucleotides other than the two end ones.

A segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence.

Each of a pair of globular organs in the head through which people and vertebrate animals see, the visible part typically appearing almond-shaped in animals with eyelids.

The administration in the United States that is responsible for protecting human health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, and medical devices; and by ensuring the safety of the food supply, cosmetics, and products that emit radiation.

A discreet unit of hereditary information consisting of a specific nucleotide sequence in DNA (or RNA, in some viruses).

The introduction of genes into an afflicted individual for therapeutic purposes.

A genetic disease is a condition that is caused by an abnormality in an individual's DNA. This abnormality can be inherited from a parent, or it can occur spontaneously.

The scientific study of heredity and hereditary variation.

The genetic material of an organism or virus; the complete compliment of an organism’s or virus’s genes along with its noncoding nucleic acid sequences

A laboratory method that is used to determine the entire genetic makeup of an organism or cell type.

The genetic makeup, or set of alleles, of an organism.

Good manufacturing practices enforced by the FDA.

The organized provision of medical care to individuals or a community.

Medical doctors who diagnose, treat, and manage problems associated with your liver, gallbladder, bile ducts, and pancreas.

Having two different alleles of a particular gene or genes.

A state of balance among all the body systems needed to survive and function correctly. In homeostasis, body levels of acid, blood pressure, blood sugar, electrolytes, energy, hormones, oxygen, proteins, and temperature are constantly adjusted to respond to changes inside and outside the body, to keep them at a normal level.

Having two identical alleles of a particular gene or genes.

A group that has been formally designated to review and monitor biomedical research involving human subjects.

The outer covering of a mammal’s body, including skin, hair, and nails, claws, or hooves.

Situated or taking place within, or administered into, a muscle.

The fluid filled space between the thin layers of tissue that cover the brain and spinal cord.

Existing or taking place within, or administered into, a vein or veins.

A shot of medicine to the eye.

A substance that has been tested in the laboratory and has been approved by the U.S. Food and Drug Administration (FDA) for testing in people. Clinical trials test how well investigational new drugs work and whether they are safe to use. An investigational new drug may be approved by the FDA for use in one disease or condition but still be considered investigational in other diseases or conditions. Also called experimental drug, IND, investigational agent, and investigational drug.

One of a pair of organs in the abdomen. The kidneys remove waste and extra water from the blood (as urine) and help keep chemicals (such as sodium, potassium, and calcium) balanced in the body. The kidneys also make hormones that help control blood pressure and stimulate bone marrow to make red blood cells.

A large organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile.

One of a pair of organs in the chest that supplies the body with oxygen, and removes carbon dioxide from the body.

Freeze dry (a substance).

Refers to the practices and procedures used for the prevention, treatment, or relief of symptoms of diseases or abnormal conditions. This term may also refer to a legal drug used for the same purpose.

A type of RNA found in cells. mRNA molecules carry the genetic information needed to make proteins. They carry the information from the DNA in the nucleus of the cell to the cytoplasm where the proteins are made.

The chemical changes that take place in a cell or an organism. These changes make energy and the materials cells and organisms need to grow, reproduce, and stay healthy. Metabolism also helps get rid of toxic substances.

A type of RNA found in cells and in blood. MicroRNAs are smaller than many other types of RNA and can bind to messenger RNAs (mRNAs) to block them from making proteins.

Two or more atoms that are held together by covalent bonds

A change in the nucleotide sequence of an organism’s DNA or in the DNA or RNA of a virus.

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.

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

The building block of a nucleic acid, consisting of a five-carbon sugar covalently bonded to a nitrogenous base and one or more phosphate groups.

(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.

The branch of medicine concerned with the diagnosis and treatment of disorders of the eye.

A specialize center of body function composed of several different types of tissues.

A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain.

the disordered physiological processes associated with disease or injury.

A person receiving or registered to receive medicinal treatment.

The sensory and motor neurons that connect to the central nervous system.

A compound manufactured for use as a medicinal drug.

The observable physical and physiological traits of an organism, which are determined by its genetic makeup.

A person qualified to practice medicine.

A biologically functional molecule consisting of one or more polypeptides folded and coiled into a specific three-dimensional structure.

A branch of medicine that specializes in diagnosing and treating diseases of the lungs and other parts of the respiratory system. These diseases include asthma, emphysema, tuberculosis, and pneumonia.

A type of nucleic acid consisting of a polynucleotide made up of nucleotide monomers with a ribose sugar and the nitrogenous bases adenine (A), cytosine (C), guanine (G), and uracil (U); usually single stranded; function in protein synthesis, in gene regulation, and as the genome of some viruses.

A complex of rRNA and protein molecules that functions as a site of protein synthesis in the cytoplasm; consists of a large and a small subunit.

A mechanism for silencing the expression of specific genes. In RNAi, double-stranded RNA molecules that match the sequence of a particular gene are processed into siRNAs that either block translation or trigger the degradation of the gene’s messenger RNA. This happens naturally in some cells, and can be carried out in laboratory experiments as well.

A DNA sequence variation that occurs when a single nucleotide in the genome sequence is altered and the particular alteration is present in at least 1% of the population.

The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage.

One of multiple small, single-stranded RNA molecules generated by cellular machinery from a long, linear, double-stranded RNA molecule. The siRNA associates with one or more proteins in a complex that can degrade or prevent translation of an mRNA with a complimentary sequence.

The committee at n-Lorem that provides n-Lorem and the patient’s physicians guidance on the development of treatment goals and clinical outcome assessments for n-Lorem’s diverse patient population.

Beneath the skin.

A physical or mental problem that a person experiences that may indicate a disease or condition.

The therapeutic index is the range of doses at which a medication is effective without unacceptable adverse events. Drugs with a narrow TI (NTIDs) have a narrow window between their effective doses and those at which they produce adverse toxic effects.

A integrated group of cells with a common structure, function, or both.

The synthesis of a polypeptide using the genetic information encoded in an mRNA molecule. There is a change of “language” from nucleotides to amino acids.

The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve challenging medical mysteries using advanced technologies.

Whole genome sequencing is a laboratory procedure that determines the order of nucleotide bases (A, T, C, and G) in the genome of an organism in one process.