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).
| Nikpanah, Moozhan; Kim, Lauren; Mirmomen, S Mojdeh et al. (2018) Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation. Eur Radiol 28:3751-3759 |
| El-Chemaly, Souheil; Cheung, Foo; Kotliarov, Yuri et al. (2018) The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Front Immunol 9:76 |
| O'Brien, Kevin J; Gahl, William A; Gochuico, Bernadette R (2018) The curse of idiopathic. J Inherit Metab Dis 41:3-4 |
| Florenzano, Pablo; Ferreira, Carlos; Nesterova, Galina et al. (2018) Skeletal Consequences of Nephropathic Cystinosis. J Bone Miner Res 33:1870-1880 |
| Gil-Krzewska, Aleksandra; Saeed, Mezida B; Oszmiana, Anna et al. (2018) An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. J Allergy Clin Immunol 142:914-927.e6 |
| Hall, Patricia L; Lam, Christina; Alexander, John J et al. (2018) Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab 124:82-86 |
| O'Brien, Kevin J; Introne, Wendy J; Akal, Orhan et al. (2018) Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 125:168-173 |
| Han, Joan C; Reyes-Capo, Daniela P; Liu, Chia-Ying et al. (2018) Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls. J Clin Endocrinol Metab 103:2707-2719 |
| El-Chemaly, Souheil; O'Brien, Kevin J; Nathan, Steven D et al. (2018) Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PLoS One 13:e0194193 |
| Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V et al. (2018) A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet 27:1310 |
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