This purpose of this study is to learn more about neurodegenerative diseases. In particular, to determine the genetic basis of these diseases, heath and response traits associated with neurodegeneration.
The objectives of this study are to:
- Operate as a tissue repository for existing cell lines to be used as needed for genetic studies including but not limited to mutation analyses for age of onset modifiers, disease candidate genes, protein interactors, linkage studies and or drug trials.
We have cell lines that were transferred to the University of Utah from our previous institution Cedars Sinai Medical Center, all samples prior to 2000 have either the patient full name, family name or name initials. Approximately 95% of the samples will also contain the disease status and in the case of multiple samples from the same kinship relationship of one patient to the other such as sibship or spouse. These cell lines were frozen prior to HIPPA regulations regarding PHI on samples. As cell lines are used and thawed the identifiers are removed and the new batches coded.
- To actively collect tissues for banking purposes of any and all neurodegenerative diseases patients presented at our various clinics in addition to the collection of “normal” control individuals to aid in to elucidate in the:
- Susceptibility to get the disease, absence of disease,
- Disease progression or prognosis,
- And response to environment and medications.
We view this study as a minimal risk study since participation in the research be no greater than those encountered by the subject in those aspects of his or her everyday life that relate to the research therefore we believe that his research can be regarded as within the range of minimal risk.
Principal Investigator: Stefan Pulst