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[HMB265H1] - Midterm Exam Guide - Comprehensive Notes for the exam (45 pages long!)


Department
Human Biology
Course Code
HMB265H1
Professor
Maria Papaconstantinou
Study Guide
Midterm

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UTSG
HMB265H1
MIDTERM EXAM
STUDY GUIDE

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Sept. 13
HMB265: Human and General Genetics – Lecture #1
What is Genetics?
How is genetics relevant to you?
Genetics: the Science of Inheritance
What is inherited?
oHow are genes passed on from generation to generation?
How is it inherited?
How do heritable traits change over time?
Genetics: Why do we care?
1) Medicine
Many common and rare diseases are inherited
Even infectious diseases can have a genetic component
oE.g. AIDS, malaria resistance
Understanding the genetic basis of disease can lead to the development of new treatments
and allow for important screening
A map of human traits
Scientists have been trying to figure out which genes are associated with specific
phenotypes or traits
The Genomics Revolution
CRISPR!
oHuge part of the genomic revolution used for gene therapy/editing tool
Ultimate Goals of Medical Genetics
1) New treatments identifying disease genes helps in efforts to cure
2) Diagnosis and prediction  do I have a (presymptomatic) disease and what is the chance
that my child will have it also?
3) Gene therapy  replacement of “diseased” gene with “normal” gene: still experimental
Modify or reverse disease
Some successful application, but success grows
4) Pharmacogenomics how does my genetic makeup affect my response to drugs?
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Sept. 13
How to tailor treatment
Genetic Predictions = Genetic Counselling
Genetic counsellors help is assessing risk, recommending tests, interpreting results
Ethical concerns about medical genetics in society
Screening: How to interpret “probability” of contracting disease?
Should we test for diseases with no cure?
oWhat’s the point?
Privacy (employers, insurance)
oPrivacy issues (who accesses this info)
oGenetic discrimination
oIllegal to discriminate in the USA only, Canada is still under debate
Gene therapy: what counts as “normal” vs. “disorder”?
oInterpretation of individual
oThey may not want help with their “disorder”
Can a company patent my genes?
Can my genes be patented?
No!
oNow illegal under supreme court law
Genetics: Why do we care?
2) Agriculture
Crop and livestock improvement rely on understanding of genetics of important traits
Genetic engineering becoming widespread practice
Genetic diversity of crops and livestock affect their long term survival
Genetics: Why do we care?
3) Conservation
Habitat destruction reduces genetic diversity
Genetic diversity affects a species’ ability to adapt to changing environments
Low genetic diversity also increases exposure of populations to genetic disease
Genetics: Why do we care?
4) Biology!
Genetic analysis helps us understand how organisms work, how they
develop, how they behave, and how they adapt to their environment
Very strong link between genotype and phenotype
Genetics of Type II diabetes
Researches have identified numerous genes that influence risk of type II diabetes
BUT most only confer small increase in risk (e.g. 1.3 times), explaining only a small
fraction of variation
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