ADMINISTRATIVE CORE The Administrative Unit is designed to ensure efficiency in the development, dissemination and application of new knowledge obtained by the Inherited Neuropathy Consortium (INC) RDCRC. The Administrative Unit is responsible for the overall administration of the INC and will oversee and coordinate interactions between the various components and projects of the INC. The Administrative Unit consists of a central RDCRC Administrative Unit, an Internal Advisory Board (IAB) and an External Advisory Board (EAB). Dr. Shy will continue to be the Director of the INC RDCRC assisted by Dr. Scherer as Administrative Director. They will lead the central RDCRC Administrative Unit. The IAB will consist of the site PIs of the INC, representatives from the five Patient Advocacy Groups (PAGs) of the INC and our Chief Biostatistician, Brian Bundy, and two other participants from the DMCC. There will be monthly calls arranged with the IAB to discuss progress and issues concerning the various projects. An IAB specific email list will be maintained by which members can freely communicate with each other. The EAB is composed of senior, internationally recognized scientists, whose function is to advise the IAB on scientific issues, including critiquing proposals generated by members of the Consortium as projects proceed and advising the IAB and central Administrative Unit RDCRC on issues that come up as the Consortium proceeds. Dr. Shy submits an Annual Report to the EAB. The EAB will also attend annual investigator meetings at the beginning and during the third year of the funding cycle to formally critique the progress and direction of the INC.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS065712-08
Application #
8987746
Study Section
Special Emphasis Panel (ZNS1-SRB-S (62))
Project Start
Project End
Budget Start
2015-09-15
Budget End
2016-08-31
Support Year
8
Fiscal Year
2015
Total Cost
$277,404
Indirect Cost
$59,568
Name
University of Iowa
Department
Type
DUNS #
062761671
City
Iowa City
State
IA
Country
United States
Zip Code
52246
Synofzik, Matthis; Helbig, Katherine L; Harmuth, Florian et al. (2018) De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet 26:1623-1634
Shy, Michael E (2018) Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. J Clin Invest 128:110-112
Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O et al. (2018) Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve 57:749-755
Tomaselli, Pedro J; Horga, Alejandro; Rossor, Alexander M et al. (2018) IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Neuromuscul Disord 28:1012-1015
Johnson, Nicholas E; Heatwole, Chad; Creigh, Peter et al. (2018) The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Ann Neurol 84:225-233
Davies, Jenny L; Engelstad Sr.,, Janean K; E Gove, Linde et al. (2018) Somatotopic heat pain thresholds and intraepidermal nerve fibers in health. Muscle Nerve 58:509-516
Saghira, Cima; Bis, Dana M; Stanek, David et al. (2018) Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat 39:635-642
Shy, Michael; Rebelo, Adriana P; Feely, Shawna Me et al. (2018) Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 89:313-315
LaurĂ¡, Matilde; Singh, Dishan; Ramdharry, Gita et al. (2018) Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve 57:255-259
Hu, Bo; McCollum, Megan; Ravi, Vignesh et al. (2018) Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol 83:756-770

Showing the most recent 10 out of 189 publications