PHAR 211 - Basic Concepts Flashcards by A. A

Q

In Personalized Medicine What is the 4 “Right”?

A

Right patient
Right drug
Right time
Right dose

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Q

Benefits of Personalized Medicine

A

More accurate diagnosis
Optimal treatment option
Increase safety
Reduce adverse drug reactions
Faster to a cure
Increase efficacy of healthcare system
Reduce ineffective therapies

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Q

Challenges of Personalized Medicine?

A

Patient engagement
Patient privacy
Evidence collection
Data ownership and management
Cost

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Q

Phases of The Cell Cycle: G1

A

cell grows and prepares for DNA replication - once it passes the restriction point (R) the cell commits to the cycle for division

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Q

Phases of The Cell Cycle: S

A

DNA replication Occurs

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Q

Phases of The Cell Cycle: G2

A

cell continues to grow and prepares for mitosis

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Q

Phases of The Cell Cycle: M

A

mitosis - cell stops growth and starts division

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Q

Phases of The Cell Cycle: G0

A

cell has left the cell cycle and stopped dividing

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Q

Where Are The 2 Checkpoints In the Cell Cycle?

A

G1 Checkpoint: DNA synthesis
G2 Checkpoint: Preparation for mitosis
Apoptosis occurs when there is something wrong

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Q

What is a Chromosome?

A

Complex made up of proteins (histones) and a DNA molecule (double stranded right-handed helix)
- 23 chromosomes in human

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Q

What is a Gene?

A

A portion of chromosomal DNA sequence required for the production of a polypeptide (protein) or a functional RNA molecule - include the coding sequence and adjacent sequence required for regulation of expression (such as a promotor)

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Q

What is the Genetic Code?

A

Four types of nucleotides in DNA: A-T and G-C
Four types of nucleotides in mRNA: A-U and G-C

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Q

Gene Expression…

A

Gene –> mRNA –> Protein
Transcription: Gene –> mRNA
Translation: mRNA –> Protein

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Q

What are Promoters?

A

DNA sequences that promote gene expression - located upstream and act as a RNA polymerase binding site to initiate transcription directing the exact place it occurs

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Q

5 Genetic Variations in the Human Genome

A

Single nucleotide polymorphisms (SNPs)
Copy number variations (CNVs)
Insertions and Deletions
Large scale variations
Structural variations

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Q

Genetic Variations in the Human Genome:

Single Nucleotide Polymorphisms (SNPs)

Study These Flashcards

A

Small stretches of DNA that differ by only one base - Most common type of genetic variation

Q

Genetic Variations in the Human Genome:

Copy Number Variations (CNVs)

Study These Flashcards

A

Variation in the number of copies for a particular gene or DNA sequence
- Recombination and replication-based mechanisms
- Gene duplication and exon shiffling

Q

Genetic Variations in the Human Genome:

Insertions and Deletions (INDELs)

Study These Flashcards

A

insertion or deletion of one or more nucleotide base pairs in a DNA sequence

Q

Genetic Variations in the Human Genome:

5 Categories of Insertions and Deletions (INDELs)

Study These Flashcards

A

Insertions/Deletions of single base pairs
Expansions by only one base pair
Multi-base pair expansions of 2-15 repeats
Transposon insertions
Random DNA sequence insertions or deletions

Q

Genetic Variations in the Human Genome:

Large Scale Variations

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A

Large portions of DNA repeated or Missing for no reasons in a healthy person

Q

Genetic Variations in the Human Genome:

Structural Variations

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A

Involves Kilobase to megabase sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements
Hot Spots: regions with a lot of variation and often associated with genetic disorders and diseases

Q

Types of Structural Variations

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A

Deletion - deleted genetic material
Duplication - Duplicated genetic material
Balanced Translocation - Equal exchange of two portions of chromosomes (both chromosomes affected)
Unbalanced Translocation - Unequal exchange of portions of chromosomes (one chromosome affected)
Paracentric Inversion - inversion outisde of centromere
Pericentric Inversion - inversion around the centromere

Q

Example of Balanced Translocation

Study These Flashcards

A

Philadelphia chromosome - translocation of chromocome 9 and 22 creating a BCR-ABL gene leading to leukemia

Q

What is Genomics?

Study These Flashcards

A

Mapping, seqiencing, and functional analysis of the genome (look at all genes as an entire system)

What is Transcriptomics?

Study of transcriptomes (complete set of RNA transcripts produced by the genome) and their functions

What is an Exon?

portion of gene that encodes amino acids

What is an Intron?

portion of gene that does not encode amino acids

What is Alternative Splicing?

Removal of introns and exons in pre-mRNA to form Mature mRNA

What is Proteomics?

Study of proteomes (entire protein expressed in a cell, tissue, or organism) and their functions

What is Metabolomics?

Study of metabolites (protein-related metabolites such as peptides, amino acids, lipids, sugars and nucleotides) within cells, tissues or organisms

What is Glycomics?

type of metabolomics - identify structure and function of the complete set of glycans (glycome) produced in a given cell or organism and identify all genes that encode glycoproteins

What is Lipidomics?

Study of pathways and networks of cellular lipids in biological systems - lipid metabolizing enzymes - lipid transporters - lipid genes and regulations - lipid functions - lipid pathways and cellular processes

What is Bioinformatics?

computationial approaches to analyze, manage, and store biological data

What are biomarkers?

a biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or condition or disease - can also be used to see how well the body responds to a treatment for a disease or condition

What is Conventional Medicine?

Empirical therapies and mechanism-based therapies - developed as universa; drugs for a certain disease but is associated with lack of efficacy and adverse effects

What is Evidence-Based Medicine?

Generated from the highest of evidence from multiple randomized controlled clinical trials that address a particular clinical problem