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BIMS 201 Study Guide - Midterm Guide: Lysosomal Storage Disease, Enzyme Replacement Therapy, Exome Sequencing

Biomedical Science
Course Code
BIMS 201
Elizabeth A.Crouch
Study Guide

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Exam 3 Review
Genetic Counseling, Testing, and Gene Therapy (slide 24 and beyond)Ch.20
Exome sequencing: looking @ pt. of DNA that codes for protein (exons)
o Matching phenotype to genotype(s)
Chromosomal array tests: oligos (25 bp of single-stranded DNA on chip
o cDNA made from mRNA using reverse transcriptase, then fluorescently labeled
and adhered to chip, then chip is washed and some sequences come off,
remaining ones can see (fluoresce)
CLIA: Clinical Lab. Improvement Amendment
Guarantees that lab is testing for what it claims to be testing for, state
cleanliness requirements
DNA regulation
Disease diagnosis
regulate tests for disease association w/genes
regulate whether consumer gets helpful info or if consumer understands
Drug rxns: look @ cytochromes-encode proteins
o pharmacoGENETICS: single gene that affects drug metab.
measures enzyme that processes drug 1st
o 1pharmacogenomics: multiple genes that affect drug metab.
lysosomal storage diseases
o enzyme replacement therapy: recombinant enzyme infused into
patient=compensates for bad/absent enzyme
o substrate red. therapy: oral drug red. level of substrate (where bad enzyme is
acting on) enzyme can fxn better
o pharmacological chaperone therapy: oral drug binds misfolded protein
restored fxn
gene therapy concerns
o scientific:
1. which cells should be treated and how?
2. Will the immune system attack the introduced cells?
o bioethical:
1. Does the participant in gene therapy trial truly understand risk?
2. Should clinical trials be halted if gene enters germline? (ILLEGAL!)
Requirements for clinical trial approval:
1. Knowledge of defect and how it causes symptoms
2. Animal model
3. Success in human cells growing in vitro
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