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.
|Al-Gadi, Iman S; Haas, Richard H; Falk, Marni J et al. (2018) Endocrine Disorders in Primary Mitochondrial Disease. J Endocr Soc 2:361-373|
|Hirano, Michio; Emmanuele, Valentina; Quinzii, Catarina M (2018) Emerging therapies for mitochondrial diseases. Essays Biochem 62:467-481|
|Raghavan, Neha S; Brickman, Adam M; Andrews, Howard et al. (2018) Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol 5:832-842|
|Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312|
|Shen, Lishuang; Attimonelli, Marcella; Bai, Renkui et al. (2018) MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Hum Mutat 39:806-810|
|Garone, Caterina; Taylor, Robert W; Nascimento, Andrés et al. (2018) Retrospective natural history of thymidine kinase 2 deficiency. J Med Genet 55:515-521|
|Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge et al. (2018) Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83:1133-1146|
|Zolkipli-Cunningham, Zarazuela; Xiao, Rui; Stoddart, Amy et al. (2018) Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One 13:e0197513|
|Mancuso, Michelangelo; McFarland, Robert; Klopstock, Thomas et al. (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscul Disord 27:1126-1137|
|Bedoyan, Jirair K; Yang, Samuel P; Ferdinandusse, Sacha et al. (2017) Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab 120:342-349|
Showing the most recent 10 out of 49 publications