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Vocab
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Model organisms
Species used to study genetics and diseases due to shared genes with humans.
Homologues
Genes in different organisms that are related to human genes.
CRISPR-Cas
A genome editing tool used to modify DNA in organisms.
Biomarker
A biological indicator used for early detection of diseases.
Chronic traumatic encephalopathy (CTE)
A brain condition associated with repeated head trauma that is diagnosed post death (currently don’t have a reliable bio marker)
Karyotyping
A laboratory procedure that visualizes chromosomes to detect chromosomal abnormalities.
Amniocentesis
A technique used during pregnancy to collect amniotic fluid for genetic testing. Cells are stained and examined through karyotyping
Chorionic villus sampling (CVS)
A prenatal test that involves taking a sample of tissue from the placenta. Done 8-15 weeks. More fetal cells collected than amniocentesis
Single-nucleotide polymorphisms (SNPs)
Common/natural genetic variation in DNA- just one letter change in the genetic code
Personal genomics
The study of individuals' genomes for medical and personal insights.
Whole-genome sequencing (WGS)
A comprehensive method for analyzing the entire genetic makeup of an organism.
Pharmacogenetics
The study of how genes affect a person's response to drugs.
Monoclonal antibodies (mAbs)
Antibodies produced from a single clone of cells, used in diagnostic and therapeutic applications.
Immunotherapy
A treatment that uses the body's immune system to fight diseases like cancer.
Gene therapy
A technique that delivers therapeutic genes to correct genetic disorders.
Ex vivo
A method of gene therapy where cells are removed from the body, modified, and returned.
In vivo
A method of gene therapy where therapeutic genes are directly delivered into a person's cells.
Stem cells
Cells with the ability to self-renew and differentiate into various cell types.
Tissue Engineering
The use of cells and biomaterials to create functional tissue for medical purposes.
Regenerative medicine
A field of medicine that focuses on repairing or replacing damaged tissues and organs.
Therapeutic cloning
Cloning aimed at creating cells, tissues, or organs for medical treatments.
Induced pluripotent stem cells (iPSCs)
Somatic cells that have been reprogrammed to an embryonic stem cell-like state.
Noninvasive Prenatal Diagnosis (NiPD)
Fetal DNA can be found in the mother’s bloodstream so a simple blood sample can be used to screen for genetic disorders in the fetus without risk to the embryo.
Fluorescent In Situ Hybridization
(FISH) is a cytogenetic technique that uses fluorescent probes to bind to specific DNA sequences on chromosomes, allowing for visualization of genetic abnormalities. Used for genetic testing in adults.
Allele-Specific Oligonucleotide (ASO) Analysis
Technique used to detect diseases caused by single-gene mutations by identifying single nucleotide changes in alleles using complementary DNA probes.
Preimplantation Genetic Diagnosis (PGD) / Preimplatation genetic Testing (PGT)
A technique used in conjunction with in vitro fertilization (IVF) that allows for the screening of embryos for specific genetic conditions before implantation, helping to reduce the risk of genetic disorders. Include FISH, ASO analysis, and PCR
PCR (polymerase chain reaction)
A laboratory technique used to amplify DNA segments, allowing for the creation of millions of copies of a specific DNA sequence for analysis or testing.
SNP (single nucleotide polymorphism)
a single letter change in a DNA sequence among individuals, which can be used to study genetic diversity and associations with diseases. can be detected with ASO analysis and PCR
Genome-Wide Association studies (GWAS)
A research approach used to identify genetic variants associated with specific diseases by comparing the genomes of affected and unaffected individuals across large populations.
Herceptin
example of pharmogenetics, works only for patients whose cancer cells overexpress the HER2 gene
Gleevec
A targeted therapy used to treat certain types of cancer, particularly chronic myeloid leukemia (CML), by inhibiting the BCR-ABL fusion protein that drives the cancer's growth.
DNA microarrays
tools that allow the analysis of gene expression and genetic variations across thousands of genes simultaneously.
monoclonal antibodies
laboratory-produced molecules engineered to bind to specific antigens on cells, used in treatments like cancer therapies.
immunotherapy
a treatment that utilizes the body's own immune system to fight cancer and other diseases.
Car-T cells
are a type of immunotherapy that modifies a patient's T cells to better recognize and attack cancer cells.
T cell receptors
engineered receptors that recognize internal cancer antigens
neoantigens
unique cancer proteins used to train immune system
oncolotyc viruses
modified viruses that infect and kill cancer cells
examples of vectors
adeno viru, lentivirus, and plasmid vectors. liposomes can be used too intead of vectors by using gene gun
mniocentesis
prenatal test that uses amniotic fluid to analyze fetal chromosomes