Clinical Core (Core B) is crucial to this Udall Center. It serves as a major resource for Projects 1 and 3, and Cores C and D. It will facilitate and expedite the translation of scientific discoveries (Project 3) to the clinical arena thanks to its large collection of families (more than 850 kindreds are followed by Core B) with Parkinson disease (PD)/Parkinsonism assembled by Core 8 during the past 26 years (last 13 years under the Udall Center program). Core B will share resources and collaborate with other Udall Centers (Johns Hopkins University, University of Washington, University of Pennsylvania, University of California Los Angeles, Feinstein Institute for Medical Research North Shore-Long Island Jewish Health System, and The University of Miami). Core B will collaborate with Core A, including educational and outreach platforms, and with nearby Florida institutions, the University of Florida Shands Jacksonville and the University of Florida in Gainesville. Core B has a well established track record of supporting the NINDS initiatives such as Coriell Repository, PD-DOC, collaborative GWAS studies or iPS research, and utilizing the common date elements (CDE). Core B has long included minorities in its studies and plans to further expand this work. It will continue to expand already longitudinally followed families with PD/Parkinsonism, with autopsy proven a- synuclein and tau accumulation (Aims 1 and 2), and with both known and unknown genetic status (Aim 3). It will expand kindreds by initiating pedigree construction/genealogical work starting with autopsied index cases (novel and complex approach). It will collect CDE data from familial and sporadic cases, controls, and new families for studies conducted in Project 1, other Udall Centers, and by qualified institutions outside the Udall Centers network (Aim 3). Core B will closely work with Core C and Project 1 on research leading to new gene discoveries. Core B will collect blood and skin biopsy specimens for Projects 1 and 3. Core B is responsible for obtaining appropriate Mayo IRB Committee approvals and reporting. It communicates with research subjects after a gene discovery has been made. Core B assists Core D in obtaining autopsies (Aim 4). Core B will also support educational and outreach activities of Core A.

Public Health Relevance

Clinical Core (Core B) functions include recruitment of patients, families, and controls for clinical, genetic, and pathological studies of Parkinson disease (PD)/Parkinsonism. It has been very successful in identification of large families and thus assisting in major genetic discoveries of Mayo Udall Center grant. Core B will serve as a large clinical resource center. It hopes to further enhance knowledge of clinical and molecular genetics that will undoubtedly lead to discovery of curative therapies for PD/Parkinsonism.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS072187-04
Application #
8550147
Study Section
Special Emphasis Panel (ZNS1-SRB-J)
Project Start
Project End
Budget Start
2013-07-01
Budget End
2014-06-30
Support Year
4
Fiscal Year
2013
Total Cost
$302,601
Indirect Cost
$109,252
Name
Mayo Clinic Jacksonville
Department
Type
DUNS #
153223151
City
Jacksonville
State
FL
Country
United States
Zip Code
32224
Guerreiro, Rita; Ross, Owen A; Kun-Rodrigues, Celia et al. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17:64-74
Dickson, Dennis W (2018) Neuropathology of Parkinson disease. Parkinsonism Relat Disord 46 Suppl 1:S30-S33
Konno, T; Yoshida, K; Mizuta, I et al. (2018) Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol 25:142-147
Liu, Shu-Ying; Wile, Daryl J; Fu, Jessie Fanglu et al. (2018) The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study. Lancet Neurol 17:309-316
Konno, Takuya; Wszolek, Zbigniew K (2018) Diaphragmatic Pacemaker for Perry Syndrome. Mayo Clin Proc 93:263
Miura, Takeshi; Mezaki, Naomi; Konno, Takuya et al. (2018) Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. J Neurol 265:2415-2424
Tian, Jun; Vemula, Satya R; Xiao, Jianfeng et al. (2018) Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med :
Sanchez-Contreras, Monica Y; Kouri, Naomi; Cook, Casey N et al. (2018) Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. Mol Neurodegener 13:37
Kasanuki, Koji; Ross, Owen A; DeTure, Michael A et al. (2018) Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs. Mov Disord 33:333-334
Razquin, Cristina; Ortega-Cubero, Sara; Rojo-Bustamante, Estefania et al. (2018) Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants. Neurobiol Aging 66:177.e7-177.e10

Showing the most recent 10 out of 273 publications