4-Week Sessions-clinical only
6- and 8-Week Sessions-clinical with additional time for manuscript preparation and/or laboratory experience
Note: We do not accept students in July.
Prerequisite: Completion of basic clerkships in pediatrics and/or internal medicine. Ideally, both would be completed prior to this rotation.
Cynthia J. Tifft, MD, PhD
The NIH Clinical Center (CC) is a 200-bed clinical research hospital located on the campus of the National Institutes of Health (NIH). Each year. more than 1,500 adult and pediatric patients are evaluated on research protocols within the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center. At the request of the primary clinical research team, the NHGRI genetics consult service evaluates NIH Clinical Center patients enrolled in investigational protocols from any of the 26 Institutes that comprise the NIH. The NHGRI genetics consult service provides adult and pediatric consultations for diagnosis, genetic testing recommendations, genetic counseling, and return of genetic testing results. The clinical research protocols conducted through the NHGRI are broad in their scope and include: rare inborn errors of metabolism and multiple anomaly syndromes; the ClinSeq program using next generation sequencing to learn about the role that genes play in health and disease; and the Undiagnosed Diseases Program including careful phenotyping of adult and pediatric patients who have illnesses that have long eluded diagnosis, in combination with next generation sequencing to identify rare and/or unique genetic disorders. In addition, multiple treatment trials for genetic diseases serve as an excellent opportunity for medical students to observe the implementation of translational research into potential therapies.
In addition to participating in direct patient care on the inpatient, outpatient, and consult services, mdical students will be introduced to basic and advanced principles of genetics by attendance at educational conferences and weekly clinic teaching conference with medical genetics clinical fellows; grand rounds; and in one-on-one didactic interactions with NHGRI faculty members. Students who elect the 6- or 8-week elective will have the opportunity to work on a research project or prepare a case presentation for publication.
- Provide clinical care for patients with rare or undiagnosed genetic disease in a research environment
- Learn to take a complete genetic history and construct a 3 generation pedigree
- Learn to develop a genetic-based differential diagnosis by understanding the main classifications of genetic and metabolic diseases
- Learn how to distinguish benign from causal genomic variants
- Effectively communicate genetic information to patients, families, the patient care team, and nursing staff
- Be able to effectively use online resources to identify, treat, and teach others about genetic conditions
- Present a "case report" of a patient evaluated during the rotation in oral or poster form.
- Cynthia Tifft, MD, PhD
- William Gahl, MD, PhD
- David Adams, MD, PhD
- Leslie Biesecker, MD
- Max Muenke, MD
- Ellen Macnamara, ScM, CGC
- Charles Venditti, MD, PhD
- Kim Keppler-Noreuil, MD