There are two active protocols in our program. Protocol # 02-CH-0023 provides diagnostic and consultative evaluation to patients with a variety of rare genetic disorders; in addition it supplements and offers an additional opportunity for trainees, in NICHD and other Institutes, in clinical genetics, dysmorphology, and human biochemical genetics. Evaluations of patients with a broad spectrum of metabolic and genetic conditions are performed; we have evaluated over 450 patients in this protocol. The clinic has been a successful avenue for the training of fellows, residents and students in the area of metabolic and genetic diseases. This is the 5th year we have pediatric residents from Georgetown University Hospital in our protocol. They rotate in our clinic every month starting in July, 2003. In addition, this past year we began the rotation of all IRTAs in NIH (3 every week). We perform evaluations of local and out-of-state patients with suspected or diagnosed genetic/metabolic disorders; we have established a well known resource for patients and physicians who need counseling and /or evaluation of these conditions. The clinical services include genetic counseling, risk assessment, diagnostic testing, and discussion of preventive interventions. Standard, medically indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. In some cases, the patient receives medical or surgical treatment for their disorder, according to current clinical practice. Patients and/or family members with genetic disorders may offer their DNA for storage and/or testing. The overall purpose of this protocol is to support our Institute!/s training and research missions by expanding the spectrum of diseases that can be seen in our clinics and inpatient units.
