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: | (*TBD*) |
| 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 11 | Introduction and Background | Course Introduction/Organization, Schedule Week 2 presentations | Genetics Background | Genotyping Methodologies, Schedule Week 3-14 presentations | ||
| Week 2 - Jan 18 | PKU - Phenylketonuria | No class | Readings A | Readings B | ||
| Week 3 - Jan 25 | PKU/Maple syrup urine disease | Readings C | Readings D | Readings E | ||
| Week 4 - Feb 1 | MSUD/Pelizaeus-Merzbacher Disease | Readings F | Readings G | Readings H | ||
| Week 5 - Feb 8 | PMD/Inborn errors of metabolism | Readings I | Range of phenotypes and causes (Browse the Wikipedia lists; Burton, 1998 [online] ) | State mandated testing (Kirk et al., 2024 [online], MedlinePlus, Wadsworth Center, CDC), Testing methods | ||
| Week 6 - Feb 15 | Diabetes (T1D) | Readings J | Readings K | Readings Alpha | ||
| Week 7 - Feb 22 | Blood pressure - Hypertension | Readings L | Readings M | Readings N | ||
| Week 8 - Mar 1 | Complex phenotypes | Patch writing; Gene-environment interaction | Relative risk | Midterm paper due; review | ||
| Week 9 - Mar 8 | Spring Break | |||||
| Week 10 - Mar 15 | Tourette syndrome | Readings U | Readings V | Readings W; final paper topic due | ||
| Week 11 - Mar 22 | Schizophrenia | Readings R | Readings S | Readings T | ||
| Week 12 - Mar 29 | Schizophrenia | Readings X | Readings Y | Readings Z | ||
| Week 13 - Apr 5 | Autism and Autism Spectrum Disorder | Readings O | Readings P | Readings Q | ||
| Week 14 - Apr 12 | Autism and Autism Spectrum Disorder | Readings Beta | Readings Gamma | Readings Delta | ||
| Week 15 - Apr 19 | Closure | Current challenges: mapping complex phenotypes (Genetics by era) | Movie | Movie | ||
| Week 16 - Apr 26 | 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% |
|---|
| A | [190-200] | B+ | [173.3-180) | C+ | [153.3-160) | ||||
| B | [166.7-173.3) | C | [146.7-153.3) | D | [120-140) | F | <120 | ||
| A- | [180-190) | B- | [160-166.7) | C- | [140-146.7) | ||||
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 seven days in advance of the presentation date to give you sufficient time. Failure to meet with the instructor at least seven days in advance to discuss a paper will result in a 30% 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, Hemochromatosis Type I 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.
Note that the class may receive official communication in person in class, by email, or in the myCourses Discussion group(s). Any and all are considered official communication methods.
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 of this RIT course may be prohibited by law.
All course materials are to be considered copyrighted by Dr. Michael V. Osier, all rights reserved. Any distribution of course materials outside of the immediate course purposes, including making material available to anyone not enrolled in the course, will be handled through all appropriate RIT and legal channels.
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.
In making a determination about whether to grant a Late Course Withdrawl or Incomplete, the faculty member will consult with members of the RIT administration to gather the facts. At a minimum, the student must have experienced a major event that was not within their control at any point. All RIT and COS policies and procedures will be followed. For an Incomplete, this also means that the student must have been passing the course at the time the Incomplete was requested.
In the event of imminent disruption, such as due to weather, the class will follow the lead of RIT in making a determination of whether to move to online instruction or cancel class for the affected day(s). Changes to the syllabus will be made by Dr. Osier, potentially without student input, to retain the robustness of overall course content.
In order for a letter of recommendation to be written by Dr. Osier, the student must have earned a "A-" or better in any relevant course, have had no major issues (e.g. disciplinary), have a high quality academic record, and be of good character. In addition, the student must email Dr. Osier at least four weeks in advance with program information, a current transcript, a current CV, and a statement of what the student would like Dr. Osier to emphasize. Priority is given to students who ask first. Dr. Osier reserves the right to limit the number of letters of recommendation written given his availability. Letters will only be submitted directly to the organization applied to and never directly to the student. Dr. Osier reserves the right to determine if any given letter or recommendation will or will not be written.
As with any tool, Artificial Intelligence (AI) is best used for specific circumstances. For courses that I teach, AI may not be used for writing or drafting of an entire assignment or a significant portion of one. This includes, but is not limited to, prose or programming code. It may, however, be used to answer specific questions and enrich your understanding of the course material. For example, while it would not be appropriate to ask AI to write the introduction to a paper, or a subroutine in a program, it would be appropriate to ask AI what is currently known about gene therapy methods including citations, or how to open a file for writing in Java. However, it is your responsibility to check that what the AI is telling you is correct. I have personally seen non-existent citations, or inappropriate citations for a concept, generated by AI of various forms. Another example of appropriate use would be using AI to test your code and find errors that you may have missed. However, be sure to test your code on your own first, as AI is likely to not understand the full context of your code requirements...debugging is your responsibility.
As appropriate in this course, we will explore how AI can be used ethically and appropriately.
Use of AI in a way that is inappropriate by the above rules will be treated as cheating, including any applicable penalties. AI should be used as a tool and not as a replacement for learning.
If you have any questions about whether or not AI usage is approved and appropriate, please email the instructor or stop into office hours. I'm happy to explore this topic with you. Often there is something for me to learn, too.
Contents last updated 9/8/26