HG exam 21-30

Glycation

Non-enzymatic reaction between reducing sugars and proteins, lipids, or nucleic acids.

Advanced Glycation End Products (AGEs)

Crosslinked sugar molecules formed when protein molecules bind to sugars.

Inflammation

Body's response where antibodies attack glycation end products.

Wrinkling

Deposits of glycation products in the skin leading to loss of elasticity.

PCR

Polymerase Chain Reaction; a method to amplify DNA.

Primers

Short known sequences that flank the area of interest in PCR.

DNA polymerase

Enzyme required to add nucleotides to the new DNA strand during PCR.

Template DNA

DNA that is being amplified in the PCR process.

Nucleotides

Building blocks added to the amplified DNA strand in PCR.

Denaturation

Step in PCR where the DNA strands are separated at a high temperature.

Annealing

Step in PCR where primers bind to the template DNA.

Extension

Step in PCR where nucleotides are added to the growing DNA chain.

Gel electrophoresis

Technique to separate DNA fragments based on size.

Sanger Sequencing

Method of DNA sequencing based on selective incorporation of chain-terminating dideoxynucleotides.

Dideoxynucleotides (ddNTPs)

Nucleotide used in Sanger sequencing that terminates DNA strand elongation.

Chain termination method

Another name for Sanger sequencing, where DNA synthesis is halted.

First Generation sequencing drawback

High cost and time consumption.

Second Generation sequencing

Method that produces millions of short reads of DNA in parallel.

Third Generation sequencing

Method of sequencing that reads long DNA molecules in real time.

Microbiome

The community of microorganisms that live in and on the human body.

Human Microbiome Project

Research initiative that sequenced the microbiomes of healthy adults.

Environmental genomics

Study of the genomes of entire communities of microorganisms in environmental samples.

Metabolomics

Study of metabolic processes in cells.

Pharmacogenetics

Study of how genes affect a person's response to drugs.

Clinical utility

Usefulness of test results in patient care.

Sensitivity

The degree to which a patient reacts differently to a medication dosage.

MTHFR gene

Gene associated with the metabolism of folate; mutations can lead to health issues.

Pharmacodynamics

Study of the effects of a drug on the body.

Pharmacokinetics

Study of how drugs are absorbed, distributed, metabolized, and excreted.

Adverse drug reactions

Unintended side effects of medication that can cause harm.

Notable SNPs in MTHFR

Genetic variations that affect the metabolism of folate.

Biologically active molecule

Active form of a drug that can exert therapeutic effects.

Heterozygotes

Individuals with one normal and one mutated allele for a gene.

Homozygotes

Individuals with two copies of a mutated allele for a gene.

Preclinical studies

Early lab studies to evaluate drug safety and effectiveness.

Microdosing

Giving a very small dose of a drug to study its pharmacokinetics.

Double blind trial

Clinical trial design where neither researchers nor participants know who gets treatment.

Biomarkers

Biological indicators that can signify the presence or risk of disease.

Predisposition biomarkers

Indicators that show susceptibility to certain diseases.

Diagnostic biomarkers

Indicators used to confirm the presence of a disease.

Prognostic biomarkers

Indicators that predict disease progression in diagnosed individuals.

Predictive biomarkers

Indicators that suggest which treatment may work best for an individual.

Personalized medicine

Tailoring medical treatment to the individual characteristics of each patient.

Hurdles to personalized medicine

Obstacles such as regulatory issues and lack of approved tests.

Gene expression profiling

Analyzing the activity level of genes in a tumor to tailor treatment.

CFTR gene

Gene associated with cystic fibrosis; mutations can lead to severe disease.

Trikafta

FDA approved drug for treating cystic fibrosis in patients with specific mutations.

Lysosomal storage diseases

Disorders caused by enzyme deficiencies that lead to toxic buildup.

Enzyme replacement therapy

Infusing missing enzymes to treat genetic deficiencies.

Pharmacological chaperone therapy

Oral drugs that help misfolded proteins function correctly.

Neurotransmitters

Chemical messengers that transmit signals in the brain.

Inflammation and anxiety

Interplay of immune response and mental health affected by gut microbiota.

Probiotics

Live bacteria that provide health benefits, particularly for gut health.

Genetic factors in drug interactions

How individual genetic variations affect responses to medications.

Regulatory oversight

The process of overseeing the safety and efficacy of drugs.

Intellectual property rights

Legal rights that grants creators control over the use of their inventions.

Patient privacy

The right of patients to control their personal health information.

Screening for genetic variations

Testing individuals for specific genetic markers to predict drug response.

Blood clots and Warfarin

Medication requiring careful dosage due to genetic variations affecting metabolism.

CYP2D6 enzyme

An enzyme that metabolizes many drugs, with polymorphisms affecting efficacy.

Phase 1 drug testing

Initial trial stage focused on safety and tolerability.

Phase 2 drug testing

Trials assessing effectiveness and side effects among larger patient groups.

Phase 3 drug testing

Large trials that compare new treatment with standard options.

Post-market surveillance

Monitoring of drugs after they are approved for safety and efficacy.

Metagenomics

Study of the collective genomes of microorganisms in a specific environment.

Nonsense mutations

Genetic changes that introduce premature stop signals in protein synthesis.

SNP (Single Nucleotide Polymorphism)

A variation at a single position in a DNA sequence among individuals.

Increased risk

Higher likelihood of adverse effects from medication due to genetic factors.

Health disorder predisposition

Likelihood of developing a health condition based on genetic factors.

Personalized treatment strategies

Tailoring interventions based on individual genetic and phenotypic profiles.

Gene therapy

Treatment that modifies or replaces defective genes to cure diseases.

Patient-centered genomics

Personalized genomic information guiding healthcare decisions.

Ethical considerations in genomics

Exploring the societal implications of genetic research and application.

Genomic medicine challenges

Issues related to implementation and standardization of personalized care.

Pharmaceutical development process

Stages from research to market for new medications.

Healthcare cost management

Strategies for utilizing genomic data to optimize healthcare spending.

Healthcare delivery improvement

Using genetic insights to enhance therapeutic outcomes for patients.