Biobank: A collection of biological samples such as blood or biopsy specimens and the health information derived from them. Researchers use biobanks as a source of data for many different types of studies. Depending on the size of a biobank and the type of samples collected, it can provide access to data representing large numbers of patients.
Bioinformatics: An interdisciplinary scientific field that combines computer science, statistics, mathematics, and engineering to study biological processes.
Biomarkers: A substance found in body fluids or tissues that is a sign of a normal or abnormal biological process, or of a condition or disease. A commonly used biomarker is prostate-specific antigen (PSA). Increases in the level of PSA in a man’s bloodstream is a potential indicator of prostate cancer. Researchers may also use a biomarker to determine how well a patient is responding to a treatment.
Computational biology: The use of data-analytical and theoretical methods, mathematical modeling, and computational simulation techniques to construct theoretical models of biological systems.
Epigenome: The chemical compounds that modify, or mark, the genome to tell it what to do, and where and when to do it. These compounds are not part of the DNA itself, but can be passed on from cell to cell as cells divide, and from one generation to the next. Changes to the epigenome can change to the function of the genome, and while each person’s genome is mostly stable and does not change, the epigenome can be dramatically altered by environmental conditions.
Exome: All of the DNA that is transcribed into mature RNA in cells of any type; this is distinct from RNA that has been transcribed only in a specific cell population (the transcriptome). The DNA segments that make up the exome are called exons, and the human genome contains about 180,000 exons. Exons make up only about 1% of the total genome, but researchers think that 85% of the genetic mutations that cause or have a large effect on disease are found in the exome.
Whole genome sequencing: A process in which a person’s chromosomal and mitochondrial DNA are sequenced at a single time.
Human genome: The complete set of genetic information for humans, which is encoded as DNA sequences in the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
Next-generation sequencing (also called high-throughput sequencing): DNA and RNA analysis performed using massively parallel sequencing, during which millions of fragments of DNA or RNA from a single sample are sequenced in unison. Researchers using massively parallel sequencing technology can sequence an entire genome in less than a day.
Protocol: A detailed plan of a scientific or medical experiment, treatment, or procedure.
Refractory cancer: Cancer that does not respond to treatment. The cancer may be resistant at the beginning of treatment or it may become resistant during treatment.
Targeted therapy: Drugs including small molecules or monoclonal antibodies that attack specific types of disease cells. Targeted therapies may block the action of certain enzymes, proteins, or other molecules in the cell, or they may help the immune system kill cancer cells or deliver toxic substances directly to cells. This type of treatment may have fewer side effects than traditional cancer treatment.
Translational research: Research originating in the laboratory that is then used to develop new diagnostic and treatment approaches for patients with various diseases.
Tumor board: A group of physicians expert in different specialties who meet to review and discuss patients’ medical conditions and treatment options and collaborate to come up with multidisciplinary opinions.