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Course Description

The objective of this two-semester course is to provide an introduction to clinical and human genetics for Fellows and genetic counseling students who are preparing for subspecialty examinations of the American Board of Medical Genetics and for others who wish to learn about the expanding role of genetics in medicine. The first semester will introduce basic concepts of genetics, cytogenetics, and molecular genetics. The second semester will include presentations on clinical topics emphasizing the diagnosis and management of patients with genetic disorders. This course is designed for Fellows and genetic counseling students who are preparing for subspecialty examinations of the American Board of Medical Genetics and others who wish to learn about the expanding role of genetics in medicine.

This is the first part of a two-part course. Registration is required separately for each part of the course.

Prerequisites

Graduate-level training or experience in the biomedical sciences or consent of the course instructor.

Learning Objectives:

  • Fall:
  • Appreciate organization of the human genome and tools used to investigate it
  • Acquire skills to determine the most likely mode of inheritance of a trait, to interpret the results of linkage and association studies
  • Spring:
  • Appreciate the impact genetic disorders have on the various organ systems
  • Acquire skills to develop a differential diagnosis and appropriate work-up for a given phenotype

Textbook Information

There is a required textbook for GENE 500 that can be purchased through FAES or on your own. The name of the book is Thompson & Thompson Genetics in Medicine, 8th ed.  The fee for the book is $59.99. If you would like to purchase the book through FAES, please register for the section (GENE 500-002) that includes the book. Upon receipt of payment and fulfillment of your book order, your book can be picked up at the FAES Bookstore in Building 10 on the NIH campus in Bethesda.

If you are unable to pick up the book at the FAES bookstore and would like the book mailed to you, please contact FAES at (301) 496-7976 or registrar@faes.org. There is a $10 charge for mailing the book.

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