Download HGEN 731 Advanced Medical Genetics

HGEN 731
Advanced Medical Genetics
This course seeks to provide the student a foundation in medical genetics, focusing on common
genetic diseases and birth defects, their management, and the testing methodologies used in
diagnosis of disease.
Course Objectives:
The course will develop the student’s understanding of:
1.
Principle and practice of medical genetics including clinical features, dysmorphology,
natural history, diagnosis, etiology and management of common genetic diseases and
birth defects.
2.
Indications, limitations and methodologies of cytogenetic, biochemical and
molecular genetic tests.
3.
Case preparation and case management for various conditions and the critical use of
information resources such as medical literature, on-line databases, etc.
Learning Experience:
Invited speakers from the genetics and medical communities will lecture on various topics related
to genetic disease/birth defects. In addition to assigned readings from the recommended and
supplemental texts, each lecturer may provide a list of references to be read in preparation for the
class. Exam questions will be provided by the lecturer and will test the students on information
covered in the lecture as well as readings. There are three assignments aimed at building the
student’s case preparation and case management skills.
Grading:
The final grade will be based on the two exams and one course assignment as follows:
3 Exams
20% each
Pediatric case assessment
15%
Case Preparation Assignement
15%
Student teaching assignement
10%
Attendance is required for all classes. Two or more unexcused absences will result in a 1/2 grade
deduction from final grade.
A= 91 or above
B+= 87-90 B= 81-86
C+= 77-80
C= 71-76
Recommended Texts
Seashore and Wappner- Genetics in Primary Care and Clinical Medicine, 1996
Wilson and Cooley- Preventive Management Of Children with Congenital Anomalies and
Syndromes, 2000.
Supplemental Texts (Reserved in Library):