Spring 2003 IDM724/BMS624/BMS614 Human Genetics
COURSE DIRECTOR: Dr. Elizabeth Bryda, Department of Microbiology, Immunology and Molecular
Genetics. MEB Room 112, 696-7357, ebryda@marshall.edu
COURSE DESCRIPTION: An introduction to the study of heritable diseases in humans, their
molecular basis and their detection and treatment. Clinical cases illustrating inherited diseases will be
presented in the latter half of the course.
COURSE OBJECTIVES: The major objectives of this course are to (1) explain inherited human
disease in terms of the molecular architecture and physiology of the eukaryotic cell, (2) describe
modes of inheritance of human diseases, and (3) explain how this information is used in the diagnosis
and treatment of inherited disease. Further, this course is designed to introduce recombinant DNA
technology, gene therapy and other developments in the field of genetics and molecular biology that
are critical to the understanding of the current medical literature.
COURSE CREDITS: IDM 724 (2 credits) is available to medical students only. BMS 614 (2 credits)
is available to graduate and forensic science students. BMS 624 (4 credits) is offered to advanced
graduate students only with the course director’s permission; for this course, students must also give
journal club presentations and write a term paper.
PREREQUISITES: Medical biochemistry is required for all medical and forensics science students;
graduate students should have taken either medical biochemistry or an undergraduate genetics
course.
COURSE WEB SITE: http://musom.marshall.edu/micro/bryda/idm724.htm. This site contains
the course policy and schedule, files of the handouts and PowerPoint presentations if the lecturer
makes them available, links to useful web sites, including the link to WebCT necessary for completion
of homework assignments, and an anonymous feedback option.
ASSIGNED COURSE TEXT: Thompson and Thompson “Genetics in Medicine” by Nussbaum,
McInnes and Willard (W.B. Saunders, 6 th edition, 2001).
Handouts will be provided on a regular basis. Please read the appropriate handout and text reading
assignment before class.
EXAMS: There will be three exams. The first 2 exams will be preceded by a review session held
during regular class time. This time will be used for problem solving and for unfinished business. All
exams are cumulative in the sense that a given analytical tool (e.g. pedigree analysis) may be used in
a number of different genetic disciplines (e.g. determination of molecular basis of the disorder,
diagnosis of the type of disorder, assessment of risk to future progeny). Exams will include any
material covered during the lecture and review sessions. The third exam will be cumulative and cover
not only lecture material given after Exam II but will review material from throughout the entire course.
The following policies will be used for absences from exams: 1) The Course Director must be notified
in advance should a situation arise where a student will miss an exam, and 2) Only exceptional,
legitimate, documented excuses will be accepted. Exceptional circumstances include: death or
serious illness in the immediate family, childbirth, illness requiring hospitalization and illness serious
enough to warrant a written dispensation from a physician. Minor illnesses are not exceptional
circumstances.
In the event that a medical student cannot take the exam, the rules established by the MSII Course
Directors’ committee apply in terms of receiving permission to miss the exam and making
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arrangements to take the exam at an alternative time.
In the event that a graduate student cannot take the exam, permission to take a make-up exam will be
at the Course Director’s discretion. The form of the make-up exam (whether multiple choice, oral,
essay, etc.) will be decided by the Course Director.
EXAM SCHEDULE: Exams are scheduled for February 18, April 8, and May 1.
QUESTION BANKS: Selected old exams from previous years can be located at the Genetics Web
site. Several links to web sites that offer practice problems/questions can also be found on the
Genetics Web site. Accuracy of questions and answers is not guaranteed.
ATTENDANCE POLICY: Attendance at every lecture is highly recommended. IDM
724/BMS614/BM624 will meet on Wednesdays and Fridays from 11:15 am - 12:05 pm. Exams may
fall on days/times outside of the regular class time, depending on the MSII exam schedule. We follow
the Medical School calendar, which differs from the general University calendar. In the second half of
the course, there are lecturers from clinical departments. These lectures may require special time
slots.
ATTENDANCE POINTS: Attendance at three of the clinical lectures (Drs. Hummel, Leidy, and
Heydarian) is mandatory and will count for 1 point each (total of 3 points possible). Please sign the
attendance sheet or credit will not be given.
TAKE-HOME ASSIGNMENTS: There will be five assignments during the semester. Each
assignment will consist of several questions or problems requiring a written response. Each
assignment will be worth 5 pts. All assignments must be received by Dr. Bryda no later than 11:15 am
on the due date (see course schedule). Late assignments will not receive credit: no exceptions.
POLICY ON CHEATING: Cheating or other forms of documented academic dishonesty will result in
an automatic grade of F for the course. A record of this will be forwarded to appropriate University
officials and additional action will be taken following University guidelines.
GRADING SYSTEM: The grade will be based on the total number of points earned (exams,
homework assignments and attendance).
Final average:
91 - 100 receives "A" grade
82 - 90.9 receives "B" grade
72 - 81.9 receives "C" grade
62 - 71.9 receives "D" grade
61.9 or less receives "F" grade
COURSE INSTRUCTORS:
Elizabeth Bryda, Ph.D.
Mahmoud Heydarian, M.D.
Marybeth Hummel, M.D.
John W. Leidy, M.D. Ph.D.
Donald Primerano, Ph.D.
Blake Sypher, Ph.D.
Dept. of Microbiology
Dept. of Pediatrics
Dept. of Pediatrics (WVU)
Dept. of Medicine (Endocrinology)
Dept. of Microbiology
Dept. of Philosophy
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696-7357
691-1362
691-1699
696-7338
696-7206