Genetics: Genomes and Medicine Flashcards
0
Q
Purpose of DTC services
A
Determine if a person has disease risk alleles that are often present in the general population
1
Q
Direct to consumer genetic testing (DTC testing)
A
Genetics tests that are marketed directly to consumers via television, print advertisements, or the internet
2
Q
Genetic Information Nondiscrimination Act
A
- Prohibits discrimination in health coverage and employment based on genetic information
3
Q
Properties of Common Risk Alleles (5)
A
- They explain far less than half of the genetic basis for most common disorders
- They have small effect sizes and disease odds ratios
- Very few people have numerous common risk alleles for a given disorder
- Most often found in noncoding regions of the genome
5
Q
CFTR p.G551D and gene therapy (4)
A
- CFTR p.G551D protein reaches the epithelial cell surface, but is defective for chloride transport
- Treated with lvacaftor, which is a drug designed to potentiate or improve mutant and wild type CFTR ion channel activity
6
Q
PTC-124 (3)
A
- Is a nonsense suppressor drug that promotes read-through of premature stop codons
- Being tested to see if it can treat diseases caused by nonsense mutations
7
Q
Duchenne Muscular Dystrophy (DMD) (5)
A
- X-linked recessive disorder that results in progressive weakening and loss of muscle function and early death
- DMD gene is largest in entire human genome and codes for dystrophin
- In patients, DMD exons are often deleted or duplicated
8
Q
Dystrophin (3)
A
- Stabilizes and links the muscle fiber cytoskeleton to the membrane and renders muscle fibers more resistant to mechanical stress
- Has a special property whereby a subset of the internal exons can be deleted and the protein retains much of its function
8
Q
Pharmacodynamic effects
A
The drug’s physiological effects
9
Q
Exon skipping therapeutic approach (5)
A
- approach where a clinically modified antisense oligonucleotide designed to bind to and mask specific splice junctions is delivered to the muscle cells.
- Goal is to alter splicing such that mutant exons are removed while preserving the correct open reading frame
10
Q
Drug Rescue
A
- Involves small molecules and biologics whose development was abandoned before they could be approved by the U.S. FDA
11
Q
Drug repurposing
A
- Involves small molecules and biologics approved to treat a disease or condition to see if they are safe and effective for treating other diseases
12
Q
Pharmacokinetics (4)
A
- Deals with absorption, distribution, metabolism, and elimination of drugs (anti-cancer drugs)
