FINAL Jan 03, 2011 Cell and Molecular Biology 550 “GENETIC PRINCIPLES” Spring Semester 2011 Monday, Wednesday, Friday 10-11:30 am, 252 BRBII/III This is a combined lecture and discussion course that surveys major concepts and approaches used in experimental and human genetics. Discussions are problem-based and emphasize practical aspects of generating and interpreting genetic data. Course Directors: Meera Sundaram, 446a CRB, 573-4527, [email protected] Vivian Cheung, 516G Abramson, 590-4950, [email protected] Format: Monday and Wednesday, 1 - 1.5-hour lectures Friday, 1.5 hour discussion of assigned problem sets Grading: 25% Class participation (Discussion of assigned problems) 75% Exams (1 in-class exam and 2 take-home exams) Supplementary textbooks available online: Griffiths et al. “Introduction to Genetic Analysis” Strachan and Read, “Human Molecular Genetics” http://www.ncbi.nlm.nih.gov:80/books/ I. GENETIC CONCEPTS Lecturer Date 1. Mendelian genetics M. Sundaram Jan 12 DISCUSSION Jan 14 MARTIN LUTHER KING’S BIRTHDAY – NO CLASS - Jan 17 2. Human pedigrees and inherited disease D. Epstein Jan 19 DISCUSSION Jan 21 3. Chromosome segregation and recombination M. Sundaram Jan 24 4. Linkage mapping and positional cloning M. Sundaram Jan 26 DISCUSSION Jan 28 5. Mutagenesis and forward genetic screens T. Jongens Jan 31 6. Determining how mutations affect gene function M. Sundaram Feb 02 DISCUSSION Feb 04 7. Genomics for Geneticists K. Kaestner Feb 07 8. Transposable elements R. Bushman Feb 09 DISCUSSION Feb 11 9. Quantitative traits E. Brodkin Feb 14 1ST EXAM (IN CLASS) - Feb 16 DISCUSSION Feb 18FINAL Jan 03, 2011 II. GENETICS OF MODEL ORGANISMS Lecturer Date 1. C. elegans D. Raizen Feb 21 2. Drosophila A. Ghabrial Feb 23 DISCUSSION Feb 25 3. Mosaic analysis M. Sundaram Feb 28 4. Maternal effect and sterile mutants T. Jongens Mar 02 DISCUSSION Mar 04 SPRING BREAK NO CLASS Mar 07 Mar 09 Mar 11 5. Epistasis and genetic modifier screens M. Sundaram Mar 14 6. RNAi and miRNAs B. Gregory Mar 16 DISCUSSION Mar 18 7. Mouse knockouts and transgenics K. Kaestner Mar 21 8. Forward genetics and genomics in the mouse M. Bucan Mar 23 DISCUSSION Mar 25 2ND EXAM (TAKE HOME MAR 25 - MAR 30) III. HUMAN GENETICS AND DISEASE 1. Population genetics and human evolution S. Tishkoff Mar 28 2. Variation, linkage vs. association studies, p. I V. Cheung Mar 30 DISCUSSION Apr 01 3. Variation, linkage vs. association studies, p. II V. Cheung Apr 04 4. Mitochondrial genetics M. Falk Apr 06 DISCUSSION Apr 08 5. Chromosomal abnormalities N. Spinner Apr 11 6. X inactivation M. Bartolomei Apr 13 DISCUSSION Apr 15 7. Genetic diagnostic testing A. Ganguly Apr 18 8. Cancer genetics D. George Apr 20 DISCUSSION Apr 22 3RD EXAM (TAKE HOME APR 22 - APR 27)FINAL Jan 03, 2011 Cell and Molecular Biology 550 “GENETIC PRINCIPLES” Spring Semester 2011 This is a combined lecture and discussion course that surveys major concepts and approaches used in experimental and human genetics. Goals of the course Students will be able to: - Recognize and understand the molecular basis for different patterns of inheritance - Understand the factors that generate and shape patterns of genetic variation - Understand basic principles and approaches for forward genetics in model organisms and humans - how can you go from a phenotype to a molecular understanding of the causative variant(s)? - Understand basic principles and approaches for reverse genetics in model organisms- given a gene of known sequence, how can you use genetic approaches to determine its biological functions? - Be comfortable accessing genetic information from the primary literature and online databases - Understand the difference between necessity and sufficiency - Understand the difference between association and causality Grading Policy Grades will be based on three exams (100 points each) and Discussion participation (100 points), for a possible total of 400 points. Letter grading will be based on a curve. Those with scores above the mean will usually receive some sort of an “A” (A+, A or A-), while those with scores below the mean will receive some sort of a “B”. Those with scores more than two standard deviations below the mean will receive a C or below. The first exam will be in-class (closed book) and covers basic genetic concepts that are the foundation for the rest of the course. The second and third exam will be in take-home (open book) format; these exams will test your ability to design and interpret genetic experiments. The take-home exams must be prepared independently without ANY outside consultation. Discussion guidelines The homework problems and discussion are the most important part of this course. Each lecturer will provide assigned homework problems on the day of their lecture. Students are expected to complete the homework problems prior to Friday discussion; it is fine to work collaboratively in a “study group”. Homework will NOT be collected. However, students will be randomly chosen to answer questions during Discussion. Discussion grades will be based on: - attendance - preparation (e.g. ability to answer questions when called upon) - engagement (e.g. voluntary participation in discussion)FINAL Jan 03, 2011 CAMB 550 Lecturers – 2011 Marisa Bartolomei Dept. of Cell & Dev Biology 363 CRB, 8-9063 [email protected] Edward Brodkin Dept. of Psychiatry 2220 TRL, 215-746-0118 [email protected] Maja Bucan Dept of Genetics 111A CRB, 8-0020 [email protected] Rick Bushman Dept. of Microbiology 426 Johnson Pavilion, 3-8732 [email protected] Vivian Cheung CHOP Dept. of Pediatrics Abramson 516G, 215-590-4950 [email protected] Doug Epstein Dept of Genetics 463 CRB, 3-4810 [email protected] Marni Falk CHOP Division of Human Genetics Abramson 1002c, 215-590-4564 [email protected] Arupa Ganguly Dept of Genetics 415 Anatomy-Chemistry, 8-3122 [email protected] Amin Ghabrial Dept. of Cell & Dev. Biology 1214 BRBII/III,