Medical genetics is a fascinating and rapidly evolving specialty
spanning the course of human development from reproduction through the
prenatal, neonatal, pediatric, adolescent, and adult periods. The Human
Genome Project, designed to sequence the entire human genome by the year
2005, will irrevocably alter the practice of medicine. Screening protocols,
early intervention, and new treatment modalities including gene therapy
will become the standard of care for familial cancers, inborn errors of
metabolism, and common adult-onset disorders such as diabetes, Parkinson's,
and affective disorders, to name just a few. It is imperative for physicians
today to understand basic genetic, cytogenetic, and molecular genetic principles.
The Human Genetics course has been designed to introduce fundamental concepts
and technological advances in the study of human genetics as they pertain
to medical practice. Each of the major subspecialties will be addressed:
cytogenetics, molecular genetics, biochemical genetics, clinical genetics,
and genetic counseling. Reproductive and perinatal genetics is introduced
but will be covered in depth during the third year core clerkship rotation
in Obstetrics, Gynecology, and Reproductive Sciences.
Genetic variability provides the basis for the development of both rare
diseases and common disorders--it is also the cornerstone of individuality
and humanity.
Attendance is expected at all lectures, clinical correlations and case
studies. Videotaping will not be permitted due to issues surrounding patient
confidentiality. For similar reasons, slides used to demonstrate dysmorphology
and syndromes, which have been consented to for teaching purposes, will
be shown only in class and will not be available on reserve.
Handouts are provided as an aid to study; they are meant to complement
not substitute either for lecture attendance or textbook reading. Each
lecturer has attempted to summarize the material presented, to identify
the most important points, to provide sample exam questions, and to reproduce
the pertinent visual aids where possible. In addition, the handouts include
references to the relevant textbook reading as well as to the recent literature.
Every attempt will be made to distribute handouts in the mailboxes prior
to each lecture. Xeroxing is costly-duplicates/extra copies will not
be available.
Clinical Correlations are an integral part of this course. It is
hoped they will not only demonstrate the clinical relevance of the basic
concepts, but will also enlighten the student as to the psychosocial aspects
of genetic disorders and the physician's role in management and prevention
of complications.
Presyllabus: A presyllabus is being distributed to the class to
review basic information regarding genes, gene structure, DNA, and chromosomes.
We hope it will serve as a useful introduction.
Computer-Assisted Instruction: 2 programs are available at the student
stations. Your use of this instructional method is optional, but we encourage
you to try it and would appreciate feedback.
Our Evaluation of You: The final grade is determined by the averaged
results of the mid-term and final examinations. The mid-term examination
will contain a practical portion requiring the identification of dysmorphisms/anomalies
and syndromes. The faculty will define cut-off points determined by the
class grade distribution, based in part on standard deviations from the
mean, to establish course grades. Any grade less than 60th percentile
will result in automatic failure. Students who have not performed satisfactorily
after the first examination will be contacted. We will make every attempt
to provide tutoring for those students who are clearly having difficulties
in the course.
Your Evaluation of Us: At the conclusion of the course, you will
be given a questionnaire which will assist us in evaluating the content,
organization, and teaching of the course. The completed questionnaire must
be turned in with your final exam.
Office Hours: A listing of the faculty including their addresses
and phone numbers. Initial inquires and/or concerns may be directed to
Dr. Michael Newlon whose office is located on the Piscataway campus.
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