Studies of Pediatrics patients with genetic and metabolic disorders

患有代谢和其他遗传疾病的儿科患者的研究 人员：Raygada、Rennert 根据该协议，我们为患有各种罕见遗传疾病的患者提供护理。此外，我们补充并提供在临床遗传学，畸形学和代谢遗传学在儿童健康和人类发展的国家研究所（NICHD）和美国国立卫生研究院（NIH）的其他研究所的培训机会，并率先在特定遗传疾病的诊断和护理的特定方面的新的研究方案的发展。对患有各种代谢和遗传疾病的患者进行评估，向患者及其家属提供遗传咨询服务，以评估风险，并提供有关预防措施和检测方案的信息。我们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、多因素疾病和代谢异常。如果没有资格参加另一项NICHD研究方案（特定于某种疾病或治疗），则可以在本方案的主持下对遗传/代谢相关疾病患者进行评价，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。该协议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谱来支持我们研究所的培训和研究任务。我们对IRTA、本科生和研究生、医学生、住院医生和研究员进行了遗传病患者及其家属的护理和管理培训。

Studies of Pediatric Patients with Metabolic and other Genetic Disorders Personnel: Raygada, Rennert Under this protocol we provide care for patients with a variety of rare genetic disorders. In addition, we supplement and offer an opportunity for training in clinical genetics, dysmorphology and metabolic genetics in the National Institute of Child Health and Human Development (NICHD) and other Institutes of the National Institutes of Health (NIH), and spearhead the development of new research protocols on particular aspects of diagnosis and care for specific genetic diseases. Evaluations of patients with a broad spectrum of metabolic and genetic conditions are performed, genetic counseling services are offered to patients and their families to assess risk, and give information on preventive measures, and testing options. Disorders that we 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 another 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. The overall purpose of this protocol is to support our Institutes training and research missions by expanding the spectrum of diseases that can be seen in our clinics and wards. We trained IRTAs, undergraduate and graduate students, medical students, residents, and fellows in the care and management of patients with genetic conditions and their families.