Sample syllabus: GCD 4143
Course Information and Outline for Human Genetics - GCB 4143
Instructor: William Oetting
Office: 4-136 Moos Tower
Office hours: 2:45 - 3:30 Tu
(This is the 'official' time for office hours. Please make an appointment for other times.)
Phone: 612-624-1139
Email: bill@lenti.med.umn.edu
Teaching Assistant: Mary Kvitrud
Phone: 612-624-9663, 530 Cancer Center Research Building
Email: kvit0007@umn.edu
Course description:
This course covers the basics of human genetics, focusing on the medical aspects of genetic based human disease. Lectures include information on different modes of inheritance, including recessive, dominant, X-linked and mitochondrial, tri-nucleotide expansions and genetic imprinting. This course also includes information on genetic linkage analysis, cytogenetics and other aspects of human genetics. This course is intended for undergraduates who have had previous courses in genetics and biochemistry.
Class time: 12:45- 2:00 Tu and Th
Textbook: Genetics in Medicine, 6th edition (Revised Reprint)
Course requirements:
2 midterm tests 60%
1 final 30%
1 paper 10%
Tests will be multiple choice and short answer.
Tests will be graded as 90-80-70-60 as cutoffs for A-B-C-D. The curve may be shifted downward, but will not be shifted up.
Final
For that classes that begin at 12:00pm-12:59pm TTh
The final is at 08:00am-10:00am Tuesday, May 9
Week 1
1-17 Introduction: DNA on the web (Chapters 1-4)
Internet databases
1-19 History of Human Genetics
Two paradigms of human genetics
Week 2
1-24 Mendelian Inheritance (Chapter 5)
Pedigrees
1-26 Hemoglobinopathies (Chapter 11; also 6, 7; case presentations #28 and #30)
Genetic mutations
Week 3
1-31 Recessive Inheritance (Chapter 12; case presentation #6))
Albinism, Phenylketonuria, (PKU), Cystic Fibrosis
2-2 Recessive Inheritance
Hermansky Pudlak Syndrome, Hemochromatosis, Hurler/Hunter Syndromes
Week4
2-7 Autosomal Dominant Inheritance (Chapter 12; case presentation #1, #18, #23)
Collagen disorders, Muscular dystrophy
2-9 X-linked inheritance (Chapter 5; case presentation #7, #11, #12)
X-inactivation, Ornithine transcarbamylase
Week 5
2-14 Mitochondrial Inheritance (case presentation #20)
2-16 TEST
Week 6
2-21 Clinical Cytogenetics (Chapter 9)
Chromosomes
2-23 Clinical Cytogenetics (Chapter 10; case presentation #19, #32)
Chromosomal abnormalities
Week 7
2-28 Markers, Variation and Gene Mapping (Chapter 7)
Gene markers and linkage analysis
3-2 Markers, Variation and Gene Mapping (Chapter 8)
Linkage analysis
Week 8
3-7 Genetic Mapping of Complex Diseases
Putting it all together to map a gene
3-9 Developmental Genetics (Chapter 17; case presentation #15)
Waardenburg syndrome
Week 9
Spring Break
Week 10
3-21 Genetic Imprinting (case presentation #24)
3-23 Instability of trinucleotide repeats (pre-mutations) (case presentation #10, #16)
Week 11
3-28 Behavioral genetics (Chapter 15)
Lecture by Matt McGue
3-30 TEST
Week 12
4-4 Genetic Epidemiology
Lecture by Dr. James Pankow
4-6 Multifactorial Inheritance and Common Disease (Chapter 15)
Multi-gene disorders
Week 13
4-11 Cancer Genetics (Chapter 16; case presentation #3, #8, #25)
Breast cancer, Colon cancer
4-13 Cancer Genetics (Chapter 16; case presentation #13, #33)
Gatekeepers and Caretakers
Week 14
4-18 Clinical Genetics and Genetic Counseling (Chapter 19)
Lecture by Matt Bower
4-20 Clinical Genetics and Genetic Counseling (Chapter 19)
Lecture by Mary Ahrens
Week 15
4-25 Genetic Screening, Genetic Diagnosis and Gene Therapy (Chapter 18)
4-27 Genetic Screening, Genetic Diagnosis and Gene Therapy (Chapter 13)
Lecture by John Ohlfest
Week 16
5-2 Ethics and Social Concerns about Genetics and Society (Chapter 20)
5-4 Wrap-up
Paper
10% of course grade
Write a 5-8 page paper, double spaced, on the genetic basis of a single disease. At least 5 pages of text. Figures may be included. All sources need to be referenced with at least 5 references used in the creation of the paper. Sections (in bold) to be included in the paper and examples are shown below. 'Cutting and pasting' from the Web will not be allowed. Include at least 3 primary references.
Description of the disease
Mode of inheritance
Clinical information
History of the disease
When it was first described
Early thoughts on the cause
Early treatments
Molecular biology of the involved genes and biology of the gene products
Genes
Description of the protein products
Involved pathways
Molecular biology of the pathogenesis of the disease
Mutations
Biology of mutated protein product
Current treatments
Explanation of treatment with what is known about the involved pathway and the altered gene products
Future treatments
Gene therapy
Designer drugs
