AI (artificial intelligence): The term AI or artificial intelligence is applied when a machine mimics cognitive functions that we associate with other human minds, such as “learning” and “problem-solving”.
Augmented reality (AR): A live direct or indirect view of a physical, real-world environment whose elements are “augmented” by computer-generated or extracted real-world sensory input such as sound, video, graphics, haptics and 3D animation.
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.
Cancer stem cells: A subpopulation of cells within a cancer that resist treatments, such as chemotherapy, and can regenerate the tumor.
Computational biology: The use of data-analytical and theoretical methods, mathematical modeling, and computational simulation techniques to construct theoretical models of biological systems.
Data visualization: Involves the creation and study of the visual representation of information that has been abstracted in some schematic form, including attributes or variables for the units of information.
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 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 is found in the exome.
Genome: The genetic material of an organism that consists of DNA and includes both the genes (the coding regions) and the noncoding DNA, as well as the genetic material of the mitochondria.
Gene expression profiling: The process that involves measuring the level of all genes expressed in a population of cells. These data are then used for looking at what genes are turned on and off in a particular disease or in response to a drug perturbation.
Leukemia: This is a type of cancer in which blood cells accumulate or grow abnormally and fail to produce functional mature cells.
Machine learning: The use of artificial intelligence (AI) to learn from examples of data, discover hidden and complex patterns in that data and search these for patterns in new data.
Metastasis: The process by which a tumor spreads from its site of origin to different site. For example, prostate cancer originates in the prostate, however, can spread and invade the bone.
Mutation: The permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
Pharmacogenomics: Technologies that enable the understanding of how genetic variation predicts response to therapy. In the Englander Institute for Precision Medicine, we extend this general definition and we include how transcriptional responses predict both drug response and the modulation of drug response.
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.
Machine learning: A field of computer science that gives computers the ability to learn without being explicitly programmed.
Minimal residual disease, or “MRD”: the minute number of cells that may persist following cancer therapy. Improved detection of these cells could enable better evaluation of treatment response and the likelihood of relapse.
Mixed reality (MR): A hybrid reality that is the merging of real and virtual worlds to produce new environments and visualizations where physical and digital objects co-exist and interact in real time. Mixed reality takes place not only in the physical world or the virtual world, but is a mix of reality and virtual reality, encompassing both augmented reality and augmented virtuality via immersive technology.
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.
Precision Medicine Knowledgebase (PMKB): A project of the Englander Institute of Precision Medicine (EIPM) at Weill Cornell Medicine, to provide information about clinical cancer variants and interpretations in a structured way, as well as allowing users to submit and edit existing entries for the continued growth of the knowledgebase.
Protocol: A detailed plan of a scientific or medical experiment, treatment, or procedure.
Refractory cancer: Cancer that does not respond to treatment. Cancer may be resistant at the beginning of treatment or it may become resistant during treatment.
Relapse: The reemergence of cancer following treatment. For example, Acute Myeloid Leukemia relapse often occurs within 8 months.
Secondary malignancies: A type of cancer or “pre-cancer” such as leukemia or myelodysplastic syndrome arising as a result of the treatment of another type of cancer.
Targeted therapy: Drugs including small molecules or monoclonal antibodies that attack specific types of diseased 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.
Translational genomics: The leveraging of genomic information to deliver near-term clinical results, from technologies such as genome sequencing.
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.
Virtual reality (VR): A technology that uses special headsets or multi-projected environments, to generate realistic images, sounds and other sensations that simulate a user’s physical presence in a virtual or imaginary environment. A person using virtual reality equipment is able to “look around” the artificial world, and move around in it and interact with virtual features or items.