Fall, Winter, and Spring. Eight-Week Session
 
Course Description

The program focuses on clinical and laboratory aspects of the diagnosis of genetic diseases, different methods of treatment, approaches to counseling, and principles of molecular and population genetics. Residents gain practical exposure to clinical genetics in the following ways: 1) participation in the National Institutes of Health (NIH) once-a-week genetics clinic and consultative service, with responsibility for presenting the patients at the post-clinic conference; 2) evaluation of patients with genetic diseases on the Clinical Center wards; and 3) visits to genetics clinics and Children's National Medical Center.

Each Resident may participate in a laboratory, clinical, or library research project under staff supervision. Research opportunities are plentiful in the clinical branches of the scientists participating in this program. These research projects offer Residents exceptional experience in current and important areas of investigation in medical genetics. The opportunity to make a presentation, either clinical case or brief research project, is available at the end of the rotation.

Recent research projects have included: genetic disease in offspring of long-term survivors of childhood cancer; sequencing of the gamma and alpha promoter regions in a 25-year old West Indian black female with hereditary persistence of fetal hemoglobin; premature ovarian failure and abnormalities of the X chromosome—a survey; cytogenetic studies of fibroblast cell lines derived from a patient with a mosaic translocation trisomy 21; features of DNA sequences at deletion breakpoints; and characterization of single-stranded conformational polymorphism (SSCP) banding patterns.

The competing demands of clinical responsibilities and research commitments viewed during this elective reflect the pressures that are a constant part of a career in academic medicine. As in that setting, fulfilling one's responsibility to patients is the first priority.

Course Objectives

• Basic concepts in human genetics.
• Recent advances in cytogenetics and biochemical and molecular genetics.
• Clinical exposure to patients with a variety of genetic diseases.
• Research experience related to medical genetics.

Staff

• National Cancer Institute
  Mark Greene, MD
  Christine Mueller, DO
  Sheila Prindiville, MD
   
• National Institute of Child Health and Human Development
  Constantine Stratakis, MD
  Cynthia Tifft, MD, PhD
   
• National Eye Institute
  Brian Brooks, MD, PhD 
   
• National Human Genome Research Institute
  Les Biesecker, MD
  William A. Gahl, MD, PhD
  Suzanne Hart, PhD
  Donna Krasnewich, MD, PhD
  Maximilian Muenke, MD
  Ellen Sidransky, MD

Course Coordinators

• Donna M. Krasnewich, MD, PhD
• Elizabeth Garabedian, RN, MSLS