HMB265: Human & General Genetics
Lecture 1: Genetics & Genomics of Biology
Dr. Maria Papaconstantinou
Dr. Levy-Strumpf
Dr. Maria Papaconstantinou
Course Coordinator
Human Biology Program
hmb265h.hmb@utoronto.ca
Dr. Naomi Levy-Strumpf
Lectures 1-11
Forward Genetics
Population Genetics
Genomics
Human Biology Program
Dr. Belinda Chang
Lectures 12-23
Quantitative Genetics
Reverse Genetics
Departments of Ecology &
Evolutionary Biology (EEB) and
Cell & Systems Biology (CSB)
The rest of your HMB265 team...
Your tutors!
HMB265
Introductory course to Genetics at the University
of Toronto
Overall Objectives:
Provide knowledge & preparation for 3rd &
4th year courses in this discipline
Requisite introduction to genetics for life
scientists who may never deal with genetics
in an in-depth manner again
HMB265
Introduction to transmission (classical,
Mendelian, quantitative, & population) genetics &
molecular genetics
Understand how genetic tools work to go from
phenotype to genotype (forward genetics), and from
genotype to phenotype (reverse genetics)
From model organisms to humans, with an
emphasis on human examples where possible
HMB265 Goals
Teach fundamental concepts and problem solving skills
in genetics through lectures, tutorials, and assignments
Learn relevant scientific terminology
Understand fundamental concepts
Interpret genetic data
Learn an approach to science beyond memorization
of facts
HMB265 Prerequisites
You require BIO120H, BIO130H and
(CHM135H1/CHM139H1, CHM136H1/ CHM138H1)/
CHM151Y1 as prerequisites to take this course
If you have any questions about your pre-requisite
status email: hmb.undergrad@utoronto.ca
General and Human
Genetics
Forward Genetics
Reverse Genetics
Classical / Mendelian Genetics
Mutation & Transposable Elements
Extensions of Mendelian Genetics
Chromosomal Changes
Linkage, Recombination & Mapping
Epigenetics
Population Genetics
Use of Genetics in Development
Quantitative Genetics
Cancer Genetics & Gene Therapy
HMB265 Web Resources
Course Website on Quercus (q.utoronto.ca)
Lecture handouts, assignments, tutorial questions,
scheduling information
HMB265 Discussions on Quercus
Post your questions on lecture
material & assignments
Subject Format: Lecture X, slide Y,
topic Z
Lecture Handouts
Posted on HMB265 Course Web Site on Quercus
You will need to add additional notes on your own
(lectures, readings)
No fill ins
Detailed, meant to complement the textbook
Best if read in advance
Required Materials
Genetics: From Genes to Genomes, 2nd Canadian edition
(2017) by Hartwell et al., McGraw-Hill Ryerson Canada.
Solutions manual for Genetics: From Genes to Genomes,
2nd Canadian edition (2017) by Karagiannis and
Papaconstantinou, McGraw-Hill Ryerson Canada.
Required Readings
Problem Sets for Tutorials
https://uoftbookstore.com/buy_textbooks.asp?
https://connect.mheducation.com/class/h-265fall-2020
Required Reading
Listed on the lecture handouts
The lecture material builds up systematically, from one
lecture to the next, and you might get lost if you don’t stay
on top of things, SO...DON’T DELAY, START READING NOW
The readings are meant to back up the material provided in
lecture - i.e. clear up ambiguities, add details, provide
examples of application of theory, etc.
Use the readings to ANNOTATE handouts
Details are important, but understanding how they are
used to PROBLEM SOLVE is even more important
Evaluation
Term Mark (65%):
Tutorials
20% -10 quizzes (2% each), on
Quercus (best 9/10 count
toward final grade)
Assignment
Online Participation
(Quizzical)
10% -November 16th
10% -Question composition (5%), 1
Q and As for 2 lectures
-Practice Quizzes (5%)
25% -October 20th
Midterm Exam
-MC & short answer Qs
Final Exam
35% -MC & short answer Qs
Tutorials
MANDATORY
Tutorials are based on solving scientific questions using
genetic tools learned in lecture, through reading the textbook,
and working through practice questions listed in the syllabus
Assigned questions, readings and notes will be posted on the
HMB265 Quercus site and will form the basis of weekly quizzes
PROBLEM SOLVING is one of the most important aspects
of the course - we will deal with the background, theory and
provide problem solving examples in lecture, but you must
practice
Tutorials start Monday, September 21st-YOU MUST ATTEND
AT THE ASSIGNED TIME—Timed quizzes begin at 10:10am,
11:10am, or 12:10pm EST and online tutorial with TAs follows
Tutorials (cont.)
No cell phone/tablet/laptop/textbook/smart watch/lecture
notes, etc. use when writing quizzes
A non-programmable calculator is the ONLY aid allowed
Midterm test and exam
Largely based on PROBLEM SOLVING and APPLICATION
OF KNOWLEDGE
The tools to solve these problems are all right here:
Handouts - show background for problem solving
Lectures - attend & annotate handouts with what is said
Readings - use them to add details & clarify points
Tutorial Problems and Quizzical Practice Questionsperfect practice
Past Examinations - good practice
Quercus - ask questions, see answers to
other peoples’ questions, interact with the profs, etc.
Lecture Review Session
Tuesdays from 4:10 to 5:00pm online following lecture on
Zoom
Follows a Q & A format
Review sessions will not be recorded
Review Session with TAs
Fridays from 3:10 to 5:00pm online on BB Collaborate or
Zoom starting September 18th
Follows a Q & A format
Final Reminders
Textbook and solutions manual available from U of T
Bookstore or McGraw-Hill website
Get going on readings and tutorial questions
Check tutorial time on ACORN/ROSI
Check your Quizzical assigned lectures on Quercus
Have a great term and enjoy the course!
Dr. Naomi Levy-Strumpf
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Acknowledgement
Slides were provided by:
Prof. Maria Papaconstantinou
Prof. Stephen Wright
McGraw-Hill Education Limited
Modified by Dr. Naomi Levy-Strumpf
23
What is Genetics?
How is genetics relevant to you?
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Genetics: the Science of Inheritance
• What is inherited?
• How is it inherited?
• Where does heritable
variation come from?
• How do heritable traits
change over time?
Photo source: Genetics Literacy Project
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Genetics: Why Do We Care?
Medicine
Many common and rare diseases are inherited
Understanding the genetic basis of disease can lead to the
development of new treatments, allow for important screening and
prevention measures
Cystic fibrosis
• Targeted treatment
• Personalized medicine
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Genetics: Why Do We Care?
Medicine
Even infectious diseases can have a genetic component
(e.g. AIDS, malaria resistance)
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The books of life
Human Genome Project
© 2017 McGraw-Hill Education Limited
(Ryzhi/Getty Images)
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A Map of Human Traits
NHGRI GWA Catalog
www.genome.gov/GWAStudies
www.ebi.ac.uk/fgpt/gwas/
Published Genome-Wide Association Studies
29
A Map of Human Traits
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The genomic revolution
• Access to information
• Gene editing
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Transformative power
Therapy with the right drug at the right dose to the right patient!
3
Regenerative Medicine
3
The Do-It-yourself Biotechnology Movement
DIYbio.org
biocurious.org
DYI Biotech
• >90% work in communal spaces
• Mostly under 45
• Crowd source funding
3
Fast Forward
Synthetic Genomics
In 2010, J. Craig Venter Institute
synthesized the first completely
human-made! bacterial genome.
© 2017 McGraw-Hill Education Limited
3
Endless Possibilities……
3
6
Modern genetic techniques
The information in DNA is one-dimensional & digital
Combined power of DNA
sequencers, computers, &
DNA synthesizers
Interpret
Store
Replicate
& transmit genetic
information electronically
© 2017 McGraw-Hill Education Limited
Genomics can rapidly
analyze thousands of
genes
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Disease gene identification based on genetic
linkage analysis
CFTR cystic fibrosis transmembrane conductance regulator
1989, Hospital for Sick Children in Toronto & University of Michigan
Normal
Cystic fibrosis
chloride channel
© 2017 McGraw-Hill Education Limited
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WDR62- A causal gene for microcephaly
identified by exome sequencing
© 2017 McGraw-Hill Education Limited
3
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, & what is the chance that my child will have it?
3)
Gene therapy - Replacement of “diseased” gene with
“normal” gene, correction of the mutation (gene editing), or
other innovative approaches
4)
Pharmacogenomics - How does my genetic makeup affect
my response to drugs?
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Genetic Predictions = Genetic Counselling
Genetic counsellors:
•
assessing risk
•
Recommending
tests
•
Interpreting results
Making predictions about future possibilities and risks
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The Power of Genetics: Social & Ethical
Concerns
• Screening: How to interpret ‘probability’of contracting
disease?
• Should we test for diseases with no cure?
• Privacy (employers, insurance)
• Gene therapy: what counts as ‘normal’vs. ‘disorder’?
• Manipulating human embryos
• Can a company patent my genes?
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Companies are banking on human genetics
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Genome sequence of the “prince of
darkness”?
Left: © Jason Merritt/Getty Images, Right: © iStockphoto/Thinkstock
4
Companies are banking on human genetics
45
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4
Genetic Non Discrimination Act
© 2017 McGraw-Hill Education Limited
4
Gene Patenting
A gene patent is the exclusive rights to a specific sequence
of DNA (a gene) given by a government to the individual,
organization, or corporation who claims to have first
identified the gene.
48
Can My Genes Be Patented?
Product
of
Product of nature
Nature!
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Sheryl Ubelacker, The Canadian Press
5
Regulation and control of new technology
Guidelines must be established to prevent misuse of new
knowledge in human genetics
Should genetic engineering of human embryos be allowed?
5
Genetics: Why Do We Care?
Agriculture
United Nations predicts by 2050, we will need to feed a
world population of 9.1 billion! Add to that climate
change…..This requires raising food production by
approx. 70%-100%!
52
Genetics: Why Do We Care?
Agriculture
•
•
•
•
Pest or disease-resistant plants
Higher yield
Higher protein or vitamin content
Tolerance to cold temperatures;
Drought resistance
• Biofuels
• Pharmaceutical proteins –
Molecular Pharming
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Genetics: Why Do We Care?
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
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Genetics: Why Do We Care?
Biology!
organismal traits
protein
DNA
Genetic analysis helps us
understand how organisms
work, how they develop, how
they behave, and how they
adapt to their environment
Model Organisms
Genomes of model organisms
were sequenced as part of the
Human Genome Project
© 2017 McGraw-Hill Education Limited
Genetic dissection of model organisms:
 Inactivate a gene and observe the consequences
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Deciphering Gene Function
High degree of conservation
© 2017 McGraw-Hill Education Limited
Pax6 required for eye development in insects, mice, & humans
Expression of the human Pax6 gene in Drosophila can induce
eye development!
57
Is everything in our genes?
Nature or Nurture?
Haemophilia
Down’s
syndrome
Phenylkatonuria(PKU)
Diabetes
Heart Disease
Tuberculosis
Scurvy
5
Contributing
factors:
• Age
• Obesity
• Sedentary lifestyle
Genetics plays an important role in type II diabetes, but diet and lifestyle
also have major impact, and are the major causes of rising incidence.
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The aim of HMB265 is to better understand:
•
How does one make the connection between genotype
and phenotype?
•
How is genetics used as a tool to understand biology,
human or otherwise?
•
How predictive is genetics?
•
What can genetics tell us about the development and
evolution of organisms, human and otherwise?
•
How were all of these principles discovered?
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How do we know what we know?
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Have a great term and enjoy the course!
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