The NHGRI Office of the Clinical Director manages Clinical Support Services for Genetics and Genomics in a variety of ways. 1. The Office provides extensive administrative support for medical personnel in their performance of clinical research into rare genetic diseases. This includes credentialing of health care professionals, support of their state licenses, provision of parking spaces for acute care providers, scheduling of patients and their tests, arranging contracts for clinical testing, and providing reimbursement for travel, outside medical testing, and especially genetic testing. 2. The Office also provides academic support and infrastructure for clinical investigators, including the setting of policies for the Institute, assisting in patient recruitment, handling patient, physician, and Congressional inquiries by phone, FAX, or e-mail, providing advice regarding clinical protocol writing, tracking protocols through the IRB approval system, establishing a Data Safety and Monitoring Board and arranging its meetings twice a year, and creating and maintaining a Statistical Consultation Service for the entire Institute. The Clinical Director also supervises the administrative personnel as well as research nurses and nurse practitioners for the Institute, and schedules ward coverage. The Clinical Director supervises the Bioethics Core and attends IRB meetings. 3. The Office of the Clinical Director advances clinical and translational research in the NHGRI by fostering new initiatives such as the NIH Undiagnosed Diseases Program (in collaboration with the Office of Rare Disease Research and the NIH Clinical Center).
|Gunay-Aygun, Meral; Font-Montgomery, Esperanza; Lukose, Linda et al. (2013) Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology 144:112-121.e2|
|El-Chemaly, Souheil; Malide, Daniela; Yao, Jianhua et al. (2013) Glucose transporter-1 distribution in fibrotic lung disease: association with [¹?F]-2-fluoro-2-deoxyglucose-PET scan uptake, inflammation, and neovascularization. Chest 143:1685-91|
|Jessen, Birthe; Bode, Sebastian F N; Ammann, Sandra et al. (2013) The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood 121:2943-51|
|Gunay-Aygun, Meral; Gahl, William A (2013) Reply. Gastroenterology 144:1156-7|
|Seward Jr, Samuel L; Gahl, William A (2013) Hermansky-Pudlak syndrome: health care throughout life. Pediatrics 132:153-60|
|Nesterova, Galina; Malicdan, May Christine; Yasuda, Kaori et al. (2013) 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol 8:649-57|