Core B

Project: Research project

Project Details


PROJECT SUMMARY/ABSTRACT: CORE B The Clinical Core (Core B) will be responsible for providing the human tissues necessary for completion of the Aims of Projects 1–3 and the Human Validation Core (Core C). The availability of tissues from ALS patients and controls is essential for better defining the relevance of data generated from animal and in vitro disease models. With a focus on ALS related to the C9orf72 hexanucleotide repeat expansion (c9ALS), Core B will collect, bank and distribute cerebral spinal fluid (CSF), skin and/or blood samples for induced pluripotent stem (iPS) cell generation, and postmortem tissue from deeply phenotyped c9ALS patients, as well as patients with sporadic ALS (sALS). Importantly, to investigate changes in biomarkers that reflect the transition from the presymatomatic to the symptomatic phase of disease, we will seek out asymptomatic carriers of the C9orf72 repeat expansion, identified from family members of c9ALS patients, to be followed longitudinally. We will also pursue postmortem tissue collections from patients who were studied during life, which will allow for the high value comparison of data from brain and spinal cord tissue with spinal fluid and iPS cells. In addition to new patients and samples generated during the course of this P01 program project, Core B will act as the “clearinghouse” for samples already banked at our respective institutions (Emory, Mayo Clinic Jacksonville, Massachusetts General Hospital, and Johns Hopkins), and from our collaborators at the NIH and the Target ALS Foundation. Core B will maintain a database of available tissues for distribution to Project and Core investigators. Project PIs will request biofluids and tissue samples from Core B, and Core B will identify appropriate sources and facilitate sample shipments. Note that each participating institution retains its own IRB-approved protocols for collecting patient data and biological samples, and banks all biospecimens locally. Thus, Core B will act as a central coordination core that will maintain a database and arrange for distribution of patient tissue samples at each institution.
Effective start/end date4/1/203/31/24


  • National Institute of Neurological Disorders and Stroke: $556,797.00
  • National Institute of Neurological Disorders and Stroke: $524,455.00


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