Studies of Pediatrics patients with genetic and metabolic disorders

患有遗传和代谢疾病的儿科患者的研究

• 批准号: 7594271
• 负责人: Owen M Rennert
• 金额: $ 8.48万
• 依托单位: EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7594271
• 关键词: Adult; Childhood; Clinic; Clinical; Clinical Protocols; Clinical Research; Clinical Skills; Condition; Congenital Abnormality; DNA; Development, Other; Diagnosis; Disease; Dysmorphology; Evaluation; Family; Family member; Genetic; Genetic Counseling; Hereditary Disease; Hereditary Malignant Neoplasm; Institutes; Laboratories; Measures; Medical; Metabolic; Metabolic Diseases; Mission; National Institute of Child Health and Human Development; Operative Surgical Procedures; Patient Care; Patients; Pediatrics; Physicians; Preventive; Protocols documentation; Purpose; Research; Research Training; Risk; Services; Standards of Weights and Measures; Stimulus; Syndrome; Testing; Training; Training Programs; United States National Institutes of Health; ward

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.

对具有广泛代谢和遗传状况的患者进行评估；根据该协议，我们总共评估了386个。此外，向患者及其家人提供遗传咨询服务，以评估风险，并提供有关预防措施和测试选择的信息。研究的疾病包括儿童和/或成人发作，先天异常和/或先天缺陷，畸形综合征，家族性癌症综合征，多因素疾病和代谢异常的疾病。如果不符合NICHD研究方案（特定于疾病或治疗），则可以根据该方案的主持人评估患有遗传/代谢相关疾病的患者，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性。可以进行标准，医学指示的实验室或放射学研究，以确认诊断或帮助患者治疗。 在某些情况下，根据当前的临床实践，患者接受医疗或手术治疗。 患有遗传疾病的患者和/或家庭成员可能会提供其DNA进行存储和/或测试。该协议的总体目的是通过扩大在我们的诊所和病房中可以看到的疾病范围来支持我们研究所的培训和研究任务。