Spring 2006
Medical Genetics—Revised Syllabus
Biology 3327/01
MW 9:30 am –10:45 am
1104 Kennesaw Hall
Professor:
Estella B. Chen, PhD
324 Science Center
Office Hours:
Tuesdays--12:30-1:30; Wednesdays—5:30-6:30
or by appointment
Phone:
Email:
678-797-2080 (email is the best way to contact me)
contact me through the WebCT mail system
Required Texts:
1. Peter Turnpenny, Sian Ellard. Emery’s Elements of Medical Genetics (at
KSU Bookstore)
2. Alice Wexler, Mapping Fate: A Memoir of Family, Risk, and
Genetic Research (buy from Amazon. 1 copy on reserve in
Library.)
3. Scientific papers as assigned.
Online information:
This course has a WebCT page (you should be able to access it through your
own WebCT page, if you are enrolled in the course). All announcements, extra
readings, exercises, topic lists, and grades will be posted on the WebCT site.
Prerequisite:
BIOL 3300 (Genetics)
Course objective:
Medical Genetics, Biol 3327 is for equipping students with the fundamental
concepts of human genetics, as well as knowledge of the genetic diseases
studied in medicine. By the end of the course, students should be
knowledgeable about the diseases studied, including their molecular and genetic
etiology, be able to identify genetic concepts in clinical cases, and solve or
predict genetic problems based on information given (hypothetical or real-life).
The course will also give an overview of the ethical and social implications of
genetics in medicine.
Evaluation and Grading:
 A short quiz will be given near the beginning of the course to assess the
students’ grasp of review concepts covered in 1st year Genetics. The quiz
will be worth 10% of the total grade.
Spring 2006


Three mid-term exams will be given later in the course, each worth 20% of
the total grade. The exams will require students to discuss specific
concepts or theories and interpret data provided in the question.
The final exam will be cumulative and will follow the same format as the
midterms (30% of total grade).
Quiz
Exam I
Exam II
10%
20%
20%
Exam III
Final Exam (cumulative)
20%
30%
Missed exams, assignments
Only three excuses are accepted for missing an exam or assignment:
illness, death in the family, or family emergency. All must be supported by
documentation (physician’s note, death certificate, police report). Vacation,
employment, personal obligation, and child care excuses will not be accepted.
Extra Credit: There are NO EXTRA CREDIT PROJECTS, as appropriate for a
college level course. The object is to learn the material reflected in the tests.
Grade Information: Grades are given out in class, by WebCT, or by a visit to the
office. University Policy requires that no grade information be given out by
telephone or e-mail, to protect the privacy of all students.
University Policy on Academic Honesty: Every KSU student is responsible for
upholding the provisions of the Student Code of Conduct, as published in the
Undergraduate and Graduate Catalogs. Section II of the Student Code of
Conduct addresses the University’s policy on academic honesty, including
provisions regarding plagiarism and cheating, unauthorized access to University
materials, misrepresentation/falsification of University records or academic work,
malicious removal, retention, or destruction of library materials,
malicious/intentional misuse of computer facilities and/or services, and misuse of
student identification cards. Incidents of alleged academic misconduct will be
handled through the established procedures of the University Judiciary Program,
which includes either an “informal” resolution by a faculty member, resulting in a
grade adjustment, or a formal hearing procedure, which may subject a student to
the Code of Conduct’s minimum one semester suspension requirement.
General Policies: Please be considerate of your fellow student and the
instructor. If there is any disruption due to inappropriate conduct during exams or
lectures, you may receive an administrative withdrawal with a “WF” and an
annotation on your permanent record as to the reason for this action.
Spring 2006
BIOLOGY 3327: SCHEDULE OF TOPICS AND EXAMINATIONS
(Changes may be made at the professor’s discretion)
Date
Topic
9-Jan
The Importance of Genetics to Medicine
Review of classical genetics, central dogma, and meiosis
Genetics review cont.
11-Jan
16-Jan
18-Jan
MLK Holiday
Sources of variation within the human genome (quiz on
genetics review)
Chapter
1
2, 3
2, 3
2+
23-Jan
25-Jan
Variation within the genome, cont.
Chromosome morphology and abnormalities
2+
3
30-Jan
1-Feb
Modes of Inheritance and Selected Examples
Exam 1
7
6-Feb
8-Feb
Test review and single gene probabilities
Single Gene Defects; Huntington's and Myotonic Dyst.
15-Feb
Biochemical defects and inborn errors of metabolism--Amino
acid metabolism
Hemoglobinopathies
20-Feb
22-Feb
Non classical inheritance--paternal/maternal imprinting
Non-classical inheritance, cont.--mitochondrial defects
27-Feb
1-Mar
Exam 2
Test Review
13-Feb
19
11
10
7
7
(Fri. Mar 3--Last day to withdraw)
6-Mar
8-Mar
Spring Break
Spring Break
13-Mar
15-Mar
Prenatal testing and Genetic Counseling Consultation
Prenatal Testing and Genetic Counseling Consultation
20-Mar
22-Mar
DNA/RNA analysis; Biochemical Analysis
Cytogenetic analysis
K. Fleiszar
K. Fleiszar
4
3
Spring 2006
27-Mar
29-Mar
Cancer Genetics
Cancer Genetics
14
14
3-Apr
5-Apr
Exam 3
Test Review; Genetic Mapping of Single Gene Disorders
8
10-Apr
Gene Mapping cont.
Multifactorial inheritance and genetic factors in common
diseases; Diabetes
12-Apr
8
15
17-Apr
19-Apr
Hypertension and schizophrenia
Reproductive Genetics
15
21
24-Apr
26-Apr
Legal and ethical considerations
Legal and ethical considerations, cont.
24
24
1-May
Cumulative Final Exam--9:30-11:30