Rotation Directors
Christopher Ours, MD, MHS
Oleg Schchelochkov, MD
Benjamin Solomon, MD
Rotation Description
Prerequisite: Completion of basic clerkships in pediatrics and/or internal medicine.
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. Clinical research conducted at the NHGRI is broad in scope and includes both natural history and interventional trials. Genetic disorders under investigation range from rare inborn errors of metabolism, somatic overgrowth disorders, to hereditary hypertension. The NHGRI genetics consult service evaluates NIH Clinical Center patients enrolled in investigational protocols from any of the 26 Institutes that comprise the NIH and e provides adult and pediatric consultations for diagnosis, genetic testing recommendations, genetic counseling, and return of genetic testing results.
Interventional trials using novel gene therapy methods and other targeted therapy service as an excellent opportunity for participants to observe the implementation of translational research. Participants will also have the opportunity to engage with the:
- Undiagnosed Diseases Program which conducts careful 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.
- Reverse Phenotyping Core which use large population datasets to explore a gene first approach to clinical diagnosis and treatment.
In addition to participating in direct patient care on the inpatient, outpatient, and consult services, medical 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 an 8-week elective mayhave the opportunity to work on a research project or prepare a case presentation for publication.
Rotation Objectives
- 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 form.
Faculty
- David Adams, MD, PhD
- Leslie Biesecker, MD
- William Gahl, MD, PhD
- Cynthia Tifft, MD, PhD
- Clesson Turner, MD
- Charles Venditti, MD, PhD