Gabriella Papale
Early Career Tenure-track Researcher, Salve Regina University
2 active projects
StarD6 SNPs in Alzheimer's Disease
Scientific Questions Being Studied
Our lab studies the protein StarD6, which has recently been implicated in risk for Alzheimer's Disease. Several single nucleotide polymorphisms have been linked to Alzheimer's Disease, such as rs10164112. These initial studies used a population without diverse genetic ancestry; as such, we would like to confirm these correlations in a population with greater diversity in terms of genetic ancestry, such as the population in the United States. We would also like to investigate additional SNPs and their correlation/linkage to Alzheimer's Disease.
Project Purpose(s)
- Disease Focused Research (Alzheimer's Disease)
- Methods Development
- Ancestry
Scientific Approaches
We plan to create several cohorts:
- no positive Alzheimer's diagnosis
- positive Alzheimer's diagnosis
- no positive Alzheimer's diagnosis (65+)
- positive Alzheimer's diagnosis (65+)
All samples will be randomized and age-matched. We will use Hail-Plink to call specific SNPs and investigate correlation between those particular SNPs and Alzheimer's Disease.
Anticipated Findings
We predict that the previously characterized SNP, rs10164112, will show a correlation with Alzheimer's Disease in a US population. We also expect to see correlation between other StarD6 SNPs and Alzheimer's Disease. These findings are significant because little is known about StarD6 in homeostatic conditions, positioning this protein as a enticing new target in Alzheimer's Disease research.
Demographic Categories of Interest
- Race / Ethnicity
- Age
- Disability Status
Data Set Used
Controlled TierResearch Team
Owner:
- Chris Hemme - Project Personnel, University of Rhode Island
- Gabriella Papale - Early Career Tenure-track Researcher, Salve Regina University
Duplicate of Skills Assessment Training Notebooks For Users (v7)
Scientific Questions Being Studied
This workspace contains multiple notebooks that assess users' understanding of the workbench and OMOP. These notebooks are meant to help users check their knowledge not only on Python, R, and SQL, but also on the general data structure and data model used by the All of Us program.
Project Purpose(s)
- Educational
Scientific Approaches
There are no scientific approach used in this workspace because it is meant for educational purposes only. We will cover all aspects of OMOP, and hence will use most datasets available in the workbench.
Anticipated Findings
We do not anticipate to have any findings. Instead, we are educating people on the use of the workbench and the common data model OMOP used by the program.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Registered TierResearch Team
Owner:
- Gabriella Papale - Early Career Tenure-track Researcher, Salve Regina University
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