Studies of Pediatrics patients with genetic and metabolic disorders

对具有广泛代谢和遗传条件的患者进行评估；根据该方案，我们总共评估了386名患者。此外，还向患者及其家人提供遗传咨询服务，以评估风险，并提供关于预防措施和检测选择的信息。所研究的疾病包括儿童和/或成人发病的染色体和孟德尔疾病、先天性异常和/或出生缺陷、畸形综合征、家族性癌症综合征、多因素障碍和代谢异常。如果不符合NICHD研究方案(针对某种疾病或治疗)，则可在此方案的支持下对患有遗传/代谢相关疾病的患者进行评估，以提高参与NICHD临床研究和培训计划的医生的临床技能，并为新的临床研究计划提供刺激。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，患者会为他们的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。该议定书的总体目的是通过扩大我们诊所和病房中可以看到的疾病的范围来支持我们研究所的培训和研究任务。

Evaluations of patients with a broad spectrum of metabolic and genetic conditions are performed; we have evaluated a total of 386 under this protocol. In addition, genetic counseling services are offered to patients and their families to assess risk, and give information on preventive measures, and testing options. Disorders that are studied include chromosomal and Mendelian disorders of childhood and/or adult onset, congenital anomalies and/or birth defects, dysmorphic syndromes, familial cancer syndromes, multifactorial disorders, and metabolic abnormalities. If not eligible for an NICHD research protocol (specific for a disease or a treatment), patients with genetic/metabolic-related conditions may be evaluated under the auspices of this protocol to advance the clinical skills of physicians participating in NICHD clinical research and training programs, and to provide stimuli for new clinical research initiatives. 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 patients receive 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 wards.