The identification of genetic cause to familial diseases and disorders has been one of the major scientific breakthroughs of the mid-20th century to present. In this course, we will examine a range of inherited human phenotypes, how causative genetic variations were identified, and what this means for the treatment of the condition. 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: | WAL-4510 |
| Meeting Time: | MWF 12-12:50am |
| Credits | 3 |
| Instructor: | Michael Osier |
| Office: | 08-1338 |
| Instructor Schedule | Schedule |
| Email: | mvoscl@rit.edu |
NOTA BENE: Material will be roughly along these lines. Specifics may change before spring.
| Week | Topic | Slot A | Slot B | Slot C | ||
|---|---|---|---|---|---|---|
| Week 1 - Jan 13 | Introduction and Background | Course Introduction/Organization, Schedule Week 2 presentations | Genetics Background | Genotyping Methodologies, Schedule Week 3-14 presentations | ||
| Week 2 - Jan 20 | PKU - Phenylketonuria | No class | Readings A | Readings B | ||
| Week 3 - Jan 27 | PKU/Maple syrup urine disease | Readings C | Readings D | Readings E | ||
| Week 4 - Feb 3 | MSUD/Pelizaeus-Merzbacher Disease | Readings F | Readings G | Readings H | ||
| Week 5 - Feb 10 | PMD/Inborn errors of metabolism | Readings I | Range of phenotypes and causes (Browse the Wikipedia lists; Burton, 1998 [online] ) | Online discussion: State mandated testing (Kirk et al., 2024 [online], MedlinePlus, Wadsworth Center, CDC), Testing methods | ||
| Week 6 - Feb 17 | Diabetes (T1D) | Readings J | Readings K | Readings Alpha | ||
| Week 7 - Feb 24 | Blood pressure - Hypertension | Readings L | Readings M | Readings N | ||
| Week 8 - Mar 3 | Complex phenotypes | Gene-environment interaction | Relative risk | Midterm paper due; review | ||
| Week 9 - Mar 10 | Spring Break | |||||
| Week 10 - Mar 17 | Tourette syndrome | Readings U | Readings V | Readings W; final paper topic due | ||
| Week 11 - Mar 24 | Schizophrenia | Readings R | Readings S | Readings T | ||
| Week 12 - Mar 31 | Schizophrenia | Readings X | Readings Y | Readings Z | ||
| Week 13 - Apr 7 | Autism and Autism Spectrum Disorder | Readings O | Readings P | Readings Q | ||
| Week 14 - Apr 14 | Autism and Autism Spectrum Disorder | Readings Beta | Readings Gamma | Readings Delta | ||
| Week 15 - Apr 21 | Closure | Current challenges: mapping complex phenotypes (Genetics by era) | Movie | Movie | ||
| Week 16 - Apr 28 | Closure | Movie conclusion, discussion, final paper due | Exam period - Gene Therapy discussion * | |||
* Note that during the exam period, there will be a final group discussion about gene therapy.
| 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 scoring sheet. The final grade for that presentation will be determined by the instructor based on these evaluations and his own. 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 scoring 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. If you use online tools such as Google Docs, be very careful of formatting issues during export. 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 phenotype, Marfan syndrome, which has a known genetic cause. This paper is due before the beginning of the Friday class on Week 8. For every calendar 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 starts is reduced by five percent, the next day on Saturday after normal class start time (noon) is reduced by 10 percent. No more than one page can be figures. Great places to find information on this trait would be OMIM and Google Scholar.
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 start of 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 "[online]" are available from myCourses under Content.
Unless written permission is granted by the faculty member, or a specific accommodation has been approved by the Disability Services Office, students are prohibited from recording lectures or presentations.
The legal use of distributed material is strictly limited to course activities, and not activity outside the course. The use of copyright protected material outside the RIT course may be prohibited by law.
Contents last updated 2/12/25