Syllabus
METABOLIC AND GENETIC
BASIS
OF HUMAN DISEASES
FOR
GRADUATE
STUDENTS
BCH 6627
(reference number 57821)
SUMMER
“A”
2002
DEPARTMENT
OF BIOCHEMISTRY AND MOLECULAR BIOLOGY
UNIVERSITY
OF SOUTH FLORIDA
COLLEGE
OF MEDICINE
TAMPA,
FLORIDA 33612
COURSE
DESCRIPTION:
BCH 6627 is a
new graduate course from the Department of Biochemistry and Molecular
Biology. The course will deal with the genetic, molecular, and biochemical
basis of human diseases. It will consist of lectures by various faculty
members within and outside the Department and also short (10 – 15 min)
weekly student presentations. A final paper (8-10 pages, double spaced)
and oral presentation (15-20 min) is due at the end of the course.
II.
COURSE OBJECTIVES:
1.
Comprehend the principles that underlie inheritance and expression of
genetic information.
2. Know the
meaning of the genetic terms autosomal dominant, autosomal recessive,
X-linked, and atypical patterns of inheritance.
3.
Understand how inherited defects in genes coding for enzymes, structural
proteins, receptors, channels, and transporters can lead to a variety of
genetic diseases.
III. RECOMMENDED
TEXTBOOKS FOR THE COURSE:
No specific
texts are assigned. Recommended reference texts on reserve in the library
for the course are:
Nussbaum,
R.L., McInnes, R.R., and Willard, H.F. (2001) Genetics in Medicine
6th edition, W.B. Sauners Company.
Mueller,
R.F. and Young, I.D. (2000) Emery’s Elements of Medical Genetics
11th edition, Churchill-Livingston Press.
Scriver,
C.R. et al. (2000) The Metabolic and Molecular Basis of Inherited
Disease, 8th edition, (4 volume set) McGraw Hill.
Web
site: http://www.ncbi.nlm.nih.gov/Omim/searchomim.html
IV.
CLASS MEETING TIMES:
Class will be held during summer Session A (a 6 week term) and meet
3 times a week. The first class will meet on Monday, May 13, and the final
class will convene on June 21. Classes will be held in room 1507 (graduate
student classroom on eastern end of the Medical Center).
Days
Time
MONDAY
9:00 – 10:30
WEDNESDAY
9:00 – 10:30
FRIDAY
9:00 - 10:50 A.M.
No
class on Memorial Holiday, May 27.
Lectures
will begin promptly at the indicated times. Please be punctual.
V.
ATTENDANCE:
Attendance
at lectures is expected, and is considered essential for efficient
transmittal and comprehension of course material.
VI.
QUIZZES,
EXAM AND TERM PAPER SCHEDULE:
Quizzes
will be given every Friday and will consist of 6-10 short questions aimed
at assessing the material presented that week. Quiz grades will make up
20% of the final grade. Weekly journal-club type presentations will make
up 20% of the grade. The final exam will be held June 21 and will make up
40% of the grade. The term paper and oral presentation of the paper will
make up 10% each.
VII. COURSE
EVALUATIONS:
Students
are encouraged to evaluate the course and the professors involved. A
course evaluation form will be promulgated on the day of the final exam.
VIII.
PARTICIPATING FACULTY
Phone E-mail
W. Lee Adair, Professor
974-9599
wadair@hsc.usf.edu
Eric
Bennett, Assistant Professor
974-1545 esbennet@hsc.usf.edu
George Blanck, Professor
974-9585
gblanck@hsc.usf.edu
Duane C. Eichler, Professor
974-9716
deichler@hsc.usf.edu
R. Kennedy Keller, Coursemaster
974-5167
rkeller@hsc.usf.edu
Gene C. Ness, Professor
974-9596
gness@hsc.usf.edu
Huntington Potter, Professor
974-5369
hpotter@hsc.usf.edu
Marvin T. Williams, Professor
974-3609
mtwillia@hsc.usf.edu
LECTURE
SCHEDULE AND OUTLINE
DATE
TOPIC
LECTURER
Monday, May 13
INTRODUCTION
Course
overview
Keller
Classification of genetic diseases
Wed,
May 15
PATTERNS OF SINGLE GENE INHERITANCE
Keller
Autosomal recessive
Autosomal dominant
X-linked
Atypical patterns of inheritance
Hardy-Weinberg law
Calculation of carrier incidence
Concept of heterozygote advantage
Friday, May 17
ENZYME DEFECTS
Adair
Smith-Lemli-Opitz Syndrome- Loss of activity
Homocysteinuria –
defect in coenzyme binding
Gout – substrate and effector binding defects
Porphyria Cutanea Tarda – kinetic constant defects
Tay Sach Disease – accessory protein defect
QUIZ
Monday,
May 20 MEMBRANE
PROTEIN DEFECTS
Ness
Familial Hypercholesterolemia – LDLR defect
Niemann
Pick disease – lysosomal transporter defect
Sitosterolemia – an ABC transporter defect
Tangier’s Disease –
another ABC transporter defect
Wed,
May 22
RECEPTOR DEFECTS
Williams
McKune-Albright
syndrome – G protein defect
Night Blindgess - Rhodopsin
Acromegaly- Growth hormone
Psuedohyperparathyroidism type A
Friday,
May 24
STUDENT REPORTS
QUIZ
Monday,
May 27 MEMORIAL
DAY HOLIDAY
Wed,
May 29
CHANNEL DEFECTS
Bennett
Cystic Fibrosis
Paramyotonia congenita
Arrhythmias
Friday,
May 31
STUDENT REPORTS
QUIZ
Monday,
June 3
STRUCTURAL GENE DEFECTS
Keller
Osteogenesis Imperfecta
– Collagen defect
Marfan’s Syndrome –
Microfibril defect
Wed,
June 5
DEVELOPMENTAL PROTEIN
DEFECTS
Blanck
Synpolydactyly – HOX gene defect
Holoproencephaly – Hedgehog gene defect
Colon cancer –Wnt-1 signaling, APC, b-catenin
Friday,
June 7
STUDENT REPORTS
QUIZ
Monday,
June 10
POLYMORPHISMS AND DISEASE
Potter
Polymorphisms and SNPs
Coronary Disease – Apo E
Alzheimer’s Disease – Apo E
COPD – Antitrypsin alleles
Wed,
June 12 HLA
ANTIGENS AND DISEASE ASSOCIATION
Blanck
Ankylosing
spondilitis
Reiter’s
syndrome
Diabetes
Regulation
of disease susceptibility by HLA polymorphism
Friday,
June 14
STUDENT REPORTS
QUIZ
Monday,
June 17
PHARMACOGENETICS AND DISEASE
Adair
G6PDH Deficiency
Malignant Hyperthermia
Wed, June 19
MULTIFACTORIAL DISEASES
Eichler
Diabetes
Obesity
QUIZ
Friday, June 21
STUDENT PAPER PRESENTATION (PAPERS DUE)