Studies of Pediatrics patients with genetic and metabolic disorders

点击翻译按钮获取中文摘要

Studies of Pediatric Patients with Metabolic and other Genetic Disorders Personnel: Raygada, Rennert Goals and Objectives: This protocol has as its objective the training of clinical fellows, graduate students and health professionals to afford them a broader understanding of heritable diseases. Additionally by seeing patients with "undiagnosed" genetic diseases or birth defects it provides clinical cases for the development of new research protocols at NIH. Studies of Pediatric Patients with Metabolic and other Genetic Disorders 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. The year 2009-2010 was the 9th year of the protocol. It has been a successful avenue for the training of fellows, residents and students in the area of metabolic and genetic diseases. This is the 7th 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, in 2007 we began the rotation of all IRTAs in NIH (3 every week). This year we begin a new rotation with the Genetics Fellows and the Genetic Counseling students from NHGRI. TOTAL NUMBER OF PATIENTS (OUT + INPATIENTS UP To now): 674 Diagnosis information: Diagnosis/Problem # of new patients - Menkes 93 - Developmental delay/FTT 119 - Family history genetic/metabolic condition 117 - Fetal death/prenatal complications 5 - Breast cancer 54 - Family history of breast cancer 26 - mitochodria/muscle disease 22 - Dysmorphic features 32 - Failure to thrive 27 - Metabolic disorder 23 - Neurofibromatosis/Harmatoses 13 - Chromosomal abnormalities 13 - Short stature/dwarfism 31 - Colobomas 2 - Microcephaly/macro/scapho 8 - Cleft Lip/Palate 4 - GIST 2 - Hyperflexibility 7 - Klinefelter 6 - Caf Au Lait Spots 8 - Down Syndrome 4 - Seizure disorder 5 - MCAD 9 - Motor neuropathies 2 - EDS/Marfan 5 - McCune Albright 1 - CALS 1 - Others 231