Fall, Winter, and Spring Sessions. Eight-Week Session

Course Coordinators:
Donna M. Krasnewich, MD, PhD
Elizabeth Garabedian, RN

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. Students 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 at Children's National Medical Center.

In what is considered to be the major focus of the elective, each student may participate in a laboratory, clinical, or library research project under staff supervision. Research opportunities are plentiful in the clinical branches and laboratories of the scientists participating in this program. These research projects offer students an exceptional experience in current and important areas of investigation in medical genetics. The choice of a research project should be made within the first two weeks of the elective. During the last week of the elective, each student gives a brief presentation of his or her research accomplishments. Recent student 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; characterization of single-stranded conformational polymorphism (SSCP) banding patterns; tumor regression using herpes simplex thymidine kinase gene therapy; and the role of stacking energy in short deletions in human genes.

The competing demands of clinical responsibilities and research commitments 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
• Fabio Candotti, MD 
• William A. Gahl, MD, PhD
• Suzanne Hart, PhD
• Donna Krasnewich, MD, PhD
• Maximilian Muenke, MD
• Ellen Sidransky, MD
• Charles Venditti, MD, PhD