About the Study
Principal Investigator: Jeffrey Rothstein, MD, PhD (Johns Hopkins)
Site-PI: Michael Benatar, MD, PhD
This is a cross-sectional study in which stems cells are created from skin cells. Skin cells, obtained from a small (3mm) biopsy on the side of the leg, are used to generate induced pleuripotent stem cells (iPS). The goal of this study is to determine whether these stem cells have the expected characteristics of motor neurons and other types of brain cells (astroglia).
Eligibility Criteria
- Positive for a mutation in the SOD1 gene (affected or pre-symptomatic)
- Healthy controls
Funding Agencies
Collaborators
- Nicholas Maragakis, MD, PhD (Johns Hopkins)
- NEALS Investigators
Contact
Research Coordinators
- Eliana Reyes, B.A.
- Sumaira Hussain, B.Sc.
Contact Information
- Email: fals@med.miami.edu
- Phone: 1-888-413-9315
Links
Publications
- Wray S, Houlden H, Morris HR, et al. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PloS one. 2012;7:e43099. [ PubMed Link ]
Presentations and Lectures
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