Syllabus, Molecular Basis of Human Disease, BIMM 110, Winter 2008.

Instructor: Professor William McGinnis, email: wmcginnis@ucsd.edu

website for the course: http://www.biology.ucsd.edu/classes/bimm110.WI08/ Last updated, Feb. 22, 2008

Required course textbook. Human Molecular Genetics, 3rd edition, by Strachan and Read. Garland Publishing, 2004.

Presentations for all lectures (in pdf format) will be available for viewing/download on the course website. (after the lecture is presented).

Course goals.
The lectures and discussions in BIMM 110 will focus on how molecular defects in genes, proteins and biological systems result in human disease. Humans and other animals have produced biological defense systems against disease, and the molecular basis of these systems will also be reviewed. Recent advances in human genomics, stem cells, and animal evolution may revolutionize the diagnosis and treatment of disease. The molecular understanding of complex human diseases is still in flux, and an important aspect of the course will be to clearly distinguish between the models for disease states and the evidence supporting such models. It is expected that students who take BIMM 110 have a good background in molecular biology, metabolism, and genetics. General background information for the course can be found in Chapters 1 and 2 of the course text, Human Molecular Genetics, 3rd edition, authors Strachan and Read.

Wikipedia on the web is a great source for the definition of terms.

Week 1. January 8 and 10. Lectures 1 and 2.

A review of human genetics and molecular biology, and the place of humans on the evolutionary tree of life. Natural selection and genetic drift. The models and evidence for the evolution and ecological adaptations of modern humans, and an introduction to the role of ecological shifts in human disease.

Background readings for Lectures 1 and 2, in the Human Molecular Genetics textbook.
Other useful reading in the Human Molecular Genetics textbook. Chapter 12, Sections 12.3.1, and Sections 12.5, especially Figures 12-22, 23, 24, 30, and 31 and associated text, and Box 12.6 and associated text. Also Chapter 9. Sections 9.1.1 and 9.1.2.

You might also be interested in the following books. The great human diaspora, by Luca Cavalli-Sforza, and Why we get sick, by George C. Williams.

Download Lecture presentations for Week 1.

Week 2. January 15 and 17. Lectures 3 and 4.

The conservation of animal regulatory pathways at the molecular level, and the relevance of this conservation for the molecular understanding of human diseases.

Useful reading. Chapter 3 of the Human Molecular Genetics textbook.

Download Lecture Presentations for Week 2.

Week 3. January 22 and 24. Lectures 5 and 6.

The genetics and molecular biology of human genetic diseases, particularly diseases of development. Quiz #1 on Thursday.

Useful readings. HMG textbook pages 40-58, also HMG Chapter 2, from sections 4 to 5.2, inclusive. also HMG Chapter 10, sections 2.3, 2.4 and 5.6.

Download lecture 1, Week 3 Download lecture 2, Week 3.

Week 4. January 29 and 31. Lectures 7 and 8.

The clinical perspective on human birth defects of chromosomal and other origins, and genetic/environmental influences on human disorders. Readings from week 3 still apply.

Download lecture 2, week 4. The lecture notes from Dr. Ken Lyons Jones are not available, and so specific material from his lecture will not be covered on the quizzes and final exam.

Week 5. February 5 and 7. Lectures 9 and 10.

Human genetic disease continued. The molecular biology of the microbal and viral pathogens. Quiz #2 on Thursday.

Download lecture notes lecture 1 week 5. download lecture 2 notes week 5. download answers to Quiz 2.

Week 6. February 12 and 14.Lectures 11 and 12.

HIV molecular biology and AIDS. The molecular biology of passive and active defenses against infectious diseases, barriers, innate immunity and adaptive immunity.

Useful readings. Chapter 10, section 6 of the HMG textbook (pages 306-311).

Download lecture 1 week 6. Download lecture 2 week 6.

Week 7. February 19 and 21. Lectures 13 and 14.

The molecular biology of disorders of physiology, especially diabetes and aging. Quiz #3 on Thursday.

Download Lecture 1 Week 7. Download lecture 2 week 7. Download answers to Quiz 3.

Week 8. February 26 and 28. Lectures 15 and 16.

The molecular biology of cardiovascular diseases and cancer, Quiz #4 (the last quiz) on Thursday.

Download Lecture 1 Week 8. Download Lecture 2 week 8. Download answers to quiz 4.

Week 9. March 4 and 6. Lectures 17 and 18.

Tuesday, CAPE for 15 minutes at the beginning of class, then more on The molecular biology of cancer

Download Lecture 1 week 9. Download Lecture 2 week 9.

Week 10. March 11 and 13. Lectures 19 and 20.

The molecular biology of degenerative diseases of the human nervous system, and human stem cells in disease therapy.

Download Lecture 1 week 10. Download Lecture 2 Week 10.

Final Exam: March 18, 3 PM. Center 115 (the regular classroom)

Office Hours: Professor McGinnis will hold office hours after class on Tuesdays.

Discussion sections and Teaching Assistants:

Students can enroll in discussion sections at/http://sections.ucsd.edu/ Select BIMM 110, log in with your PID, and choose a section (50 max allowed per section)

The Discussion section times and places:

A01 M 5:00p - 5:50p APM 2301 Disc Leader, Nolan Desa

A02 M 6:00p - 6:50p APM 2301 Disc Leader, Stevan Djakovic

A03 F 4:00p - 4:50p HSS 2154 Disc Leader, Dawna Sweeney

A04 F 5:00p - 5:50p HSS 2154 Disc Leader, Kam Lau

A05 M 08:00a - 08:50a HSS 2152. Disc Leader, McGinnis, William

A06 Tu 6:00p - 6:50p HSS 2152. Disc Leader, Stephanie Shumaker

Course grading. There will be four 20-minute quizzes, held during the last 30 minutes of class on the following Thursdays: Jan. 24, Feb. 7, Feb. 21, and Feb. 28. Each quiz will count 25 points. If you have to miss one of the quizzes for a good reason, the average of your quiz grades will be the score used for the missed quiz. You have to email Prof. McGinnis one day prior for permission to miss a quiz. Any missed quizzes beyond one will receive grades of zero points.

The final exam will count 100 points.

All quizzes and exams will be closed book/closed computer. The format of the quizzes and final exam will be similar, i.e. short answers to short questions. All questions on the quizzes and final exam will be derived from lecture material.