The identification of genetic cause to disease has been one of the major scientific breakthroughs of the late 20th century to present. In this course, we will examine a range of inherited diseases, how causative genetic variations were identified, and what this means for the treatment of the diseases. Scientific literature will be utilized, both current and historical.
Please note that this is a graduate level class. As such, all students are responsible for meeting all course requirements at a graduate level of effort. If you have any questions about what is required, please speak with the instructor.
| Meeting Location: | GOS-1174 |
| Meeting Time: | MWF 2-2:50pm |
| Credits | 3 |
| Instructor: | Michael Osier |
| Office: | 08-1338 |
| Instructor Schedule | Schedule |
| Email: | mvoscl@rit.edu |
| Week | Topic | Slot A | Slot B | Slot C |
|---|---|---|---|---|
| Week 1 - Jan 14 | Introduction and Background | Course Introduction/Organization, Schedule Week 2 presentations | Genetics Background | Genotyping Methodologies, Schedule Week 3-14 presentations |
| Week 2 - Jan 21 | Phenylketonuria | MLK Day Observance | Readings A | Readings B |
| Week 3 - Jan 28 | PKU - Maple syrup urine disease | Readings C | Readings D | Readings E |
| Week 4 - Feb 4 | MSUD - Pelizaeus-Merzbacher Disease | Readings F | Readings G | Readings H |
| Week 5 - Feb 11 | PMD - Inborn errors of metabolism | Readings I | Range of phenotypes and causes (Browse the Wikipedia lists, Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis ) | State mandated testing (MedlinePlus, Wadsworth Center, CDC), Testing methods |
| Week 6 - Feb 18 | Diabetes (T1D) | Readings J | Readings K | Readings Alpha |
| Week 7 - Feb 25 | Blood pressure - Hypertension | Readings L | Readings M | Readings N |
| Week 8 - Mar 4 | Complex phenotypes | Gene-environment interaction | Relative risk | Midterm paper due; review |
| Week 9 - Mar 11 | Spring Break | |||
| Week 10 - Mar 18 | Tourette syndrome | Class cancelled | Readings U | Readings V; final paper topic due |
| Week 11 - Mar 25 | Finish Tourette/Schizophrenia | Readings W | Readings R | Readings S |
| Week 12 - Apr 1 | Schizophrenia | Readings T | Readings X | Readings Y |
| Week 13 - Apr 8 | Finish Schizophrenia/Autism and Autism Spectrum Disorder | Readings Z | Readings O | Readings P |
| Week 14 - Apr 15 | Autism and Autism Spectrum Disorder | Readings Q | Readings Beta | Readings Gamma |
| Week 15 - Apr 22 | Finish Autism - Critique | Readings Delta | Current challenges: mapping complex phenotypes (Genetics by era) | Movie |
| Week 16 - Apr 29 | Closure | Movie, final paper due | Exam period - Movie conclusion and discussion, Gene Therapy discussion * | |
* Note that during the exam period, there will be a final group discussion about gene therapy. This counts towards participation in the course.
| Presentations | 30% |
| Participation | 25% |
| Midterm paper | 20% |
| Final paper | 25% |
| Total | 100% |
|---|
Presentations and Discussion: Grades will be based heavily on presentations to the class and participation in discussions of the presentations. All discussion sessions will be divided evenly among students during the final lecture of the first week of the semester, with approximately three presentations assigned per student. If you cannot make the class in which they are assigned, please inform the instructor as soon as possible. Given the importance of the presentations, students are required to speak with the instructor well before their presentation. This is intended to help you give the best possible presentation. Appointments must be at least one week in advance of the presentation date to give you sufficient time. Failure to meet with the instructor at least a week in advance to discuss a paper will result in a 50% grade reduction for that presentation. Note that presentations are not necessarily in order by reading letter! Please pay attention to which week your presentations are.
Individual presentations will be evaluated by the class using a standardized grading sheet. The final grade for that presentation will be determined by the instructor based on these evaluations. Presentations are expected to cover the major points of the paper, as discussed with the instructor during the required meeting. Overlap with previous presentations, for the topic and for the student, should also be minimized.
Participation will be determined through a combination of attending class on time, filling out evaluation sheets for presentations, and instructor assessment of student engagement.
Two short papers will be due during the course. Each will be scored as noted below. Each should be on 8.5"x11" paper, no more than double spaced, 10-12 pt font, with margins less than 1". Both papers must be submitted to the appropriate myCourses Dropbox in MS Word format. References and cover pages do NOT count toward or against the page limit.
The midterm paper will be a 10-15 page paper discussing a specific disease, Marfan syndrome, with a known genetic cause. This paper is due before the beginning of the Slot C class on Week 8. For every day, or portion thereof, that the paper is late, the grade will be reduced by five percent. For example, the grade for a paper handed in after class is reduced by five percent, the Saturday after class time would start is reduced by 10 percent. No more than one page can be figures. A great place to find information on this trait would be OMIM.
The final paper will be a 20-25 page paper discussing diagnosis, mapping, and treatment of an inherited disease of your choice. Students must discuss the topic of the final paper with the instructor by Friday of Week 10 at noon. Not discussing the topic with the instructor until after Week 10 will result in a maximum score of 15 points on the final paper. The final paper is due before the final class (Week 16 Monday). No late papers will be accepted. No more than three pages can be figures.
Paper grading| Component | Percent of grade |
|---|---|
| Valid/appropriate subject matter (did you follow the assignment?) | 5 |
| Clear, concise, thorough background | 10 |
| Discuss diagnosis, including genetic diagnoses | 15 |
| Discuss relevant genetic locus/loci | 15 |
| Discuss treatment(s) | 15 |
| Sufficient supporting evidence (including number of peer-reviewed citations) | 10 |
| Appropriate citations | 10 |
Style and coherence
|
10 |
| New ideas/synthesis of ideas | 10 |
| Total | 100 |
Note that articles marked "[E-reserve]" are available from Online Course Reserves (http://library.rit.edu) by choosing "Course Reserves" and searching under the Instructor's name.
Contents last updated 3/5/19