Studies of Pediatrics patients with genetic and metabolic disorders

在我们的程序中有两个有效的协议。方案#02-CH-0023为患有各种罕见遗传疾病的患者提供诊断和咨询评估；此外，它补充并为NICHD和其他研究所的受训人员提供了临床遗传学、畸形学和人类生化遗传学方面的额外机会。对具有广泛代谢和遗传条件的患者进行评估；我们在该方案中评估了450多名患者。该诊所一直是对研究员、住院医生和学生进行代谢性和遗传性疾病领域培训的成功途径。这是我们第五年让乔治敦大学医院的儿科住院医生参加我们的治疗方案。从2003年7月开始，我们的诊所每个月都会轮换。此外，在过去的一年里，我们开始了NIH所有IRTA的轮换(每周3次)。我们对当地和非本州的疑似或确诊的遗传/代谢紊乱患者进行评估；我们已经为需要咨询和/或评估这些疾病的患者和医生建立了一个众所周知的资源。临床服务包括遗传咨询、风险评估、诊断检测和预防干预讨论。可以进行标准的、医学指示的实验室或放射学研究，以确认诊断或帮助患者的治疗。根据目前的临床实践，在某些情况下，患者会因其疾病接受内科或外科治疗。患有遗传性疾病的患者和/或家庭成员可以提供他们的DNA用于存储和/或检测。该协议的总体目的是通过扩大我们诊所和住院单位可以看到的疾病的范围来支持我们研究所！/S的培训和研究任务。

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.