The goal of this course is to provide an opportunity for students to learn how the principles of human genetics relate to the diagnosis, management, and genetic counseling of individuals and families directly and indirectly affected by genetic disorders. 

Students will participate in the evaluation, care, and genetic counseling of outpatients and inpatients in the Departments of Pediatrics and Gynecology-Obstetrics at Oishei Children's Hospital as well as in satellite facilities and other hospitals.

Patients encountered during a typical month have a variety of disorders such as inborn errors of metabolism, congenital malformations, chromosomal abnormalities, and other genetic disorders. A course syllabus is provided listing the schedule of required and elective activities, background information, selected reprints and a reading list. Ancillary experience is available in:

• Our diagnostic laboratories (namely, cytogenetics, biochemical genetics and DNA/molecular)
• In hospital clinics specializing in various specific genetic disorders
• In research projects directed by members of the staff. In view of the unity of genetics as both a basic science and clinical discipline, this course provides an especially good opportunity to integrate basic science knowledge with clinical skills.     

At the end of the course, students should be able to evaluate a genetic concern (e.g., fetal exposure to a possible teratogen or positive family history) or a patient with a disorder that may be genetic by means of appropriate use of the genetic literature and those aspects of the history, physical examination, and laboratory testing most relevant to modern medical genetics. Moreover, students will have gained more insight into the emotional and societal implications of genetic disorders.

Prerequisite: MS4 or MS3 who has successfully completed PED 700

Modules: A-K  Blocks: 1-4

Number of students: 1

Course Director: Laurie Sadler, MD, FACMG

Course Coordinator: Sue Quirk