Treatment/ Case Studies Flashcards
1
Q
- Genetic cures are rare..but?
- Treatment for trisomy 21?
- MEN2A?
- Ex of treatment for metabolic disorders:
- Avoidance? Diet? Replacement? Diversion? Inhibition? Depletion?
- Enzyme/protein treatment of:
- a 1 antitrypsin?
- Fabry? (2)
- Hemophilia?
- Ex of cofactor administration?
- EC protein? (2)
- Replace IC protein?
- Target IC protein? (2)
A
- Treatment is improving
- Deal with cardiac issues
- Prophalactic treatment; thyroid removal
- Some drugs cause issues, PKU, hypothyroidism, oral resins for hyperchol.; statins for hc; LDL aphresis
- AT1 therapy
- alpha galactosidase a activity, chaperone therapy
- Factor 8 addition
- Biotindase deficiency
- F8, AT1
- ADA deficiency
- Gauchers and Fabry
2
Q
- Pompe example of?
- Progeria example of?
- Two types of gene therapies?
- Retrovirus (RNA virus), Adenovirus (DNA virus), non-viral: Pros and cons of each?
A
- Cost worth it?
- Effects all of us despite being rare genetic disease
- In vivo = Cloned in gene
Ex vivo = Take patients cells, culture then readminister
Retro: Integrate into cell genome, limited immune response but only small amount. good for dividing cells, low risk of mutogenesis, low titers
Adeno: Wide variety of cell types, large amount, no mutogenesis risk, high titers, short lived effect
Non-viral: Safe and can insert a lot of DNA but often degraded and short effect
3
Q
- Achondroplasia:
- Clinical concern? typical cause? age effect? Change in function type?
- Non syndromic and syndromic deafness:
- Non = mutation of what?
- Syndromic presents with? why?
- Variaties of FMR1 mutations:
- Number and type of repeats? MRNA? FMRP? Functional effect?
A
- Brainstem compression; two point mutations to FGFR3 which is turned on leading to gain of function; paternal age effect
- GJB2 mutation
- Siezures or decreased cognitive function –> other systems effected
- Premutation: 55-200 CCG repeats; increased; increased; gain of function
Full mutation: > 200 CCg; decrease; decrease; loss of function
