Peter H Byers
Covers modern approaches to the identification of human disease genes permitted by their isolation. Reviews how functional conservation of proteins throughout eukaryotic evolution is modeled in systems such as somatic cell culture, transgenic mice, menatodes, Drosophila, and yeast.
Genome Sciences 531 is a graded seminar course designed to provide students with insights into the molecular bases of human genetic disorders and the manner in which these insights are obtained. It is open to graduate students, post-doctoral fellows, and to select advanced undergraduates.
The course this year will focus on the concepts of allelic heterogeneity (different mutations in the same gene produce similar phenotypes), genetic heterogeneity (mutations in different genes produce similar phenotypes), and the phenotypic heterogeneity that results from mutations in the same gene.
The course will complement Pathology 516, Molecular Basis of Human Genetic Disease.
Student learning goals
General method of instruction
There are 9 separate topics for discussion. For each, one or more students will lead a discussion of 3-6 assigned papers in a field on Monday of each week. The object of these discussions is to critically discuss the publications and develop a set of unanswered questions—both regarding substance and procedure. On Tuesday of that week a faculty member who has expertise in the area discussed will join the class to discuss the questions raised with students and develop a potential plan to understand the area under discussion.
Each student is expected to read each of the papers assigned for each class, write a short précis of each paper (100 words should be fine but it should not be the abstract) and develop one or more questions on the basis of the reading for each paper. These notes will be turned in at the end of each Monday session, so keep a second copy for the discussion on Tuesday
The student leading the discussion will compile a set of questions to be asked of the visitor on the Tuesday following the initial class and will help to lead the seminar with the visitor.
Read all the assignments, be prepared to discuss the assignments and to create a set of discussion questions for the visitor.
Class assignments and grading
Assignments are to read a set of papers from the literature, usually 507 per week, to create a set of questions from those, and to discuss the shortcomings and implications of the studies. Finally, all students will participate in discussion with a visiting expert.
Completion of a written short assessment of each paper and compilation of a set of questions for discussion.