Genetic Disease and Personalized Medicine

These flashcards cover essential vocabulary terms associated with genetic diseases and personalized medicine.

Genomics

The comprehensive field of study that focuses on the entirety of an organism's genome. This includes not only the sequencing of DNA but also the analysis of genes and their functions across various organisms, enabling insights into genetic variations and their impacts.

Epigenomics

An area of genomics that examines the epigenome, which consists of chemical modifications on DNA and histones that regulate gene expression. Epigenomic studies help in understanding how environmental factors can influence gene activity without altering the DNA sequence.

Proteomics

The large-scale analysis and study of the complete set of proteins, known as the proteome, produced by an organism. This includes determining protein structures, functions, and interactions, which are crucial for understanding cellular processes and disease mechanisms.

Metabolomics

The study of small molecules known as metabolites that are produced during metabolic processes within organisms. Metabolomics provides insights into metabolic pathways and can help in identifying biomarkers for diseases.

Interactomics

The scientific study focused on understanding the interactions between different biomolecules within a biological system, such as protein-protein interactions, protein-DNA interactions, and other molecular relationships that are critical for cellular function.

Single Nucleotide Polymorphisms (SNPs)

Genetic variations that occur at a single nucleotide position in the DNA sequence among individuals. SNPs can influence how humans develop diseases and respond to pathogens, drugs, and environmental factors.

Phenomizer

An advanced expert system used in clinical settings that connects genetic variations to specific phenotypic symptoms. It aids in the diagnosis of genetic disorders by analyzing patient symptoms alongside genomic data.

Biomarkers

Objective, measurable indicators of biological processes, conditions, or responses that can be used in clinical contexts for diagnosis, prognosis, and monitoring treatment responses. Biomarkers are essential in personalized medicine.

Pharmacogenomics

The study of how an individual’s genetic makeup affects their response to drugs. This field aims at optimizing drug efficacy and minimizing adverse effects by tailoring medication plans based on a person’s genetic profile.

Clinomics

A multidisciplinary approach that integrates -omics data (like genomics, proteomics, etc.) with clinical data. This integration enhances patient care by informing healthcare decisions through data-driven insights.

Oncogenes

Genes that, when mutated or expressed at elevated levels, can lead to the development and progression of cancer. Oncogenes typically promote cell division and survival.

Tumor Suppressor Genes (TSGs)

Genes that play essential roles in regulating cell growth and division, acting as brakes in the cell cycle. Mutations in TSGs can lead to uncontrolled cell proliferation and cancer.

Angiogenesis inhibitors

Therapeutic agents that prevent the formation of new blood vessels (angiogenesis) necessary for tumors to grow and metastasize. By inhibiting blood supply, these drugs aim to starve tumors of nutrients.

Immunotherapy

A form of cancer treatment that utilizes the body’s immune system to combat cancer cells. Immunotherapies can enhance the immune response to recognize and attack cancer, leading to improved patient outcomes.

CAR-T Therapy

Chimeric Antigen Receptor T-cell therapy is a groundbreaking treatment that involves engineering a patient’s T cells to express receptors that specifically target cancer cells, enhancing the immune system’s ability to eliminate tumors.

DNA Repair Genes

Genes responsible for the repair mechanisms that correct DNA damage. Properly functioning DNA repair genes are crucial for maintaining genetic integrity and preventing mutations that may lead to cancer.

Tumor Genotyping

The process that involves analyzing the genetic mutations in tumor cells to identify alterations that drive cancer growth. This information is vital for selecting targeted therapies tailored to the specific genetic profile of a tumor.

Microbiome

The complete collection of microorganisms, including bacteria, viruses, fungi, and other microbes, residing in a particular environment, such as the human body. The microbiome has significant implications for health, metabolism, and disease.

Targeted Therapy

A class of cancer treatments that focus on specific molecular targets associated with cancer cells. By aiming at the precise genetic or molecular drivers of cancer, targeted therapies often have increased efficacy and reduced toxicity compared to traditional therapies.

Cancer Genomics

The exploration of genetic alterations specific to cancer cells, encompassing the study of mutations, copy number alterations, and structural rearrangements that contribute to cancer development, progression, and response to treatment.