The Administrative Core of the North American Mitochondrial Disease Consortium (NAMDC) will provide critical organizational and strategic support to assure the overall success of the Center in accordance with NIH Rare Disease Clinical Research Network (RDCRN) programmatic objectives. The Core will have a Principal Investigator, Administrative Director, and Statistical Director with ultimate responsibility for the Center's scientific, clinical research and training/educational operations. These individuals plus three other NAMDC investigators will form an Executive Committee that meets regularly to assess and evaluate the program and its operations. An External Advisory Committee composed of researchers, clinicians and patient advocates will advise the Center's leadership and Executive Committee.
The specific aims of the Core are 1) to provide broad-based administrative support to NAMDC, 2) work with the External Advisory Committee to assure that NAMDC operates to benefit the mitochondrial disease research and patient communities, 3) manage the internal and external communications of NAMDC, and 4) promote collaboration with investigators outside of NAMDC and assure sharing of resources. Other specific functions include fiscal management, administration of subcontract/consortium agreements, communication with NIH Program staff and the RDCRN Steering Committee, resolution of unlikely conflicts/conflicts of interest and facilitating interactions with patient advocacy groups including the United Mitochondrial Disease Foundation (UMDF). The Core will also maintain an internal website to manage internal documents and communications with NAMDC sites as well as an external website to publically communicate NAMDC's mission and the availability of training opportunities and core services.
To fulfill the mission of NAMDC to advance understanding and treatment of mitochondrial diseases, the NAMDC Administrative Core will have ultimate responsibility for the Center's scientific, clinical research and training/educational operations. A NAMDC Executive Committee and an External Advisory Committee will assess and evaluate the NAMDC programs and its operations.
|Peverelli, Lorenzo; Gold, Carl A; Naini, Ali B et al. (2014) Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Muscle Nerve 50:292-5|
|Balreira, Andrea; Boczonadi, Veronika; Barca, Emanuele et al. (2014) ANO10 mutations cause ataxia and coenzyme Q?? deficiency. J Neurol 261:2192-8|
|Garcia-Diaz, Beatriz; Garone, Caterina; Barca, Emanuele et al. (2014) Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Brain 137:1337-49|
|Garone, Caterina; Garcia-Diaz, Beatriz; Emmanuele, Valentina et al. (2014) Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 6:1016-27|
|Pascual, Juan M; Liu, Peiying; Mao, Deng et al. (2014) Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol 71:1255-65|
|Paradas, Carmen; Camano, Pilar; Otaegui, David et al. (2013) Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. JAMA Neurol 70:1425-8|
|Saneto, Russell P; Sedensky, Margret M (2013) Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics 10:199-211|
|DiMauro, Salvatore (2013) Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. Neurology 81:281-91|
|Saneto, Russell P; Cohen, Bruce H; Copeland, William C et al. (2013) Alpers-Huttenlocher syndrome. Pediatr Neurol 48:167-78|
|Melia, Maria J; Kubota, Akatsuki; Ortolano, Saida et al. (2013) Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 136:1508-17|