PEDS 425

Career Exploration in Medical Genetics

Faculty:

Dr. Cynthia Powell

Prerequisites:

Completion of pediatrics clerkship

Offered:

All elective periods (July & August by permission)

Max. Enrollment:

1

Duration:

Two Weeks

Meeting Place:

See notes section

Meeting Times:

8:30 a.m.

Credit Hours:

6

Learning Objectives:

1. Review basic principles of medical genetics and integrate this knowledge into medical practice.
2. Learn to diagnose and manage individuals with a variety of genetic disorders, including common conditions such as Down Syndrome and PKU.
3. Learn practical applications of the new information being provided by the Human Genome Project.
4. Learn how to explain complex genetic concepts to patients and their families.
5. Learn appropriate utilization and interpretation of genetic tests.
6. Develop an understanding of ethical issues raised by new advances in genetic testing and knowledge.
7. Learn to use library and web-based resources in medical genetics.

Learning Activities:

One primary focus of Medical Genetics practice in the Department of Pediatrics is on children with the common diseases of childhood, namely birth defects, mental retardation, and short stature. A second major focus of our division is on the diagnosis and management of children with inborn errors of metabolism. The student will also be exposed to a wide range of genetic issues including prenatal diagnosis, non-genetic birth defects, dysplasia involving the connective tissues and ectodermal derivatives, neurogenetics, cancer genetics, and other genetic disorders of adults.

Students will participate in the weekly Division of Genetics and Metabolism clinics all day Wednesday’s and Friday’s in-patient and out-patient consultations, and weekly conferences including Clinical Genetics Case conferences, Medical/Human Genetics Conference, Center for Maternal and Infant Health conference, and the Craniofacial Center Team conference. Students are expected to make arrangements early in the rotation to spend time in the Cytogenetics and Biochemical Genetics laboratories.

Opportunities also exist for students to attend satellite clinics and/or work on a clinical research project, with permission of the course director.

Evaluation:

Evaluation will be based on participation in division activities, demonstration of active learning through presentations in conferences and on rounds, knowledge of basic principles of medical genetics, and demonstration of skills in evaluating patients referred to the division for diagnosis and/or management.

Special Notes: