The overarching theme of this new program project proposal entitled "Pathobiology of Neurodegeneration in C9ORF72 Repeat Expansion" is to evaluate the mechanisms of C9ORF72 expanded repeats, the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), to improve the diagnosis of and prognosis for patients suffering from c9FTD/ALS. Core A will facilitate these goals by providing scientific and fiscal oversight. Core A will be responsible for managing fiscal responsibilities for the program project, ensuring ethical and responsible conduct of research, providing scientific direction and accountability, and reporting progress to the NIH and to the public. In order to assure the success of this research proposal, Core A will also leverage Mayo Clinic resources to foster a multidisciplinary program that advances research, generates valuable biological resources, and promotes education. Among institutional resources that Core A will avail itself on behalf of the P01 are administrative assistance with grants administration and all aspects of human subject research;access to biostatistics and bioinformatics;access to the latest in technology for biobanking (e.g., Nexus Universal BioStore);and institutional commitment to regenerative medicine (Center for Regenerative Medicine) for transformation of skin biopsies to fibroblast cell lines to be used by Projects 2 and 3. To accomplish these goals, the Core A will pursue the following specific aims.
Specific Aim 1 : Provide administrative structure and fiscal oversight for the program project grant.
Specific Aim 2 : Organize regular Executive Committee meetings composed of PLs of projects and cores, as well as other key personnel to assist in scientific administration and to facilitate integration and progress on research.
Specific Aim 3 : Establish an External Advisory Committee, conduct annual meetings, and report progress to the NIH.
Specific Aim 4 : Assume responsibility for quality control of program project activities and ensure the safety of human subjects and confidentiality of their data.
Specific Aim 5 : Ensure that research conforms to the standards of the ethical conduct of research and is compliant with HIPAA guidelines.
Specific Aim 6 : Promote compliance with the NIH Public Access publication policy to make the results of research funded by this proposal widely accessible to the general public.
Specific Aim 7 : Promote education of ALS and related disorders by leveraging Mayo Clinic resources for the invited speaker seminar series, scientific symposia, contribution to Mayo Clinic related social media, and encouragement of P01 scientists and clinicians to participate in patient and caregiver support groups.
|Tian, Feng; Yang, Wenlong; Mordes, Daniel A et al. (2016) Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging. Nat Commun 7:13283|
|Vatsavayai, Sarat C; Yoon, Soo Jin; Gardner, Raquel C et al. (2016) Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia. Brain 139:3202-3216|
|Lopez-Gonzalez, Rodrigo; Lu, Yubing; Gendron, Tania F et al. (2016) Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons. Neuron 92:383-391|
|Graff-Radford, Jonathan; Lesnick, Timothy G; Boeve, Bradley F et al. (2016) Predicting Survival in Dementia With Lewy Bodies With Hippocampal Volumetry. Mov Disord 31:989-94|
|Kramer, Nicholas J; Carlomagno, Yari; Zhang, Yong-Jie et al. (2016) Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science 353:708-12|
|Mohagheghi, Fatemeh; Prudencio, Mercedes; Stuani, Cristiana et al. (2016) TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor. Hum Mol Genet 25:534-45|
|Esanov, Rustam; Belle, Kinsley C; van Blitterswijk, Marka et al. (2016) C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp Neurol 277:171-7|
|Zhang, Yong-Jie; Gendron, Tania F; Grima, Jonathan C et al. (2016) C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci 19:668-77|
|Belzil, Veronique V; Katzman, Rebecca B; Petrucelli, Leonard (2016) ALS and FTD: an epigenetic perspective. Acta Neuropathol 132:487-502|
|Walton, Ronald L; Soto-Ortolaza, Alexandra I; Murray, Melissa E et al. (2016) TREM2 p.R47H substitution is not associated with dementia with Lewy bodies. Neurol Genet 2:e85|
Showing the most recent 10 out of 22 publications