Nyasha Chambwe
Early Career Tenure-track Researcher, Feinstein Institute for Medical Research
3 active projects
Duplicate of Phenotype - Type 2 Diabetes (v6)
Scientific Questions Being Studied
The Notebooks in this Workspace can be used to implement well-known phenotype algorithms in one’s own research.
Project Purpose(s)
- Educational
- Methods Development
- Other Purpose (This is an All of Us Phenotype Library Workspace created by the Researcher Workbench Support team. It is meant to demonstrate the implementation of key phenotype algorithms within the All of Us Research Program cohort.)
Scientific Approaches
Not Applicable
Anticipated Findings
By reading and running the Notebooks in this Phenotype Library Workspace, researchers can implement the following phenotype algorithms:
Jennifer Pacheco and Will Thompson. Northwestern University. Type 2 Diabetes Mellitus. PheKB; 2012 Available from: https://phekb.org/phenotype/18
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Registered TierResearch Team
Owner:
- Nyasha Chambwe - Early Career Tenure-track Researcher, Feinstein Institute for Medical Research
Population Genetic Variation in Fanconi's Anemia
Scientific Questions Being Studied
Fanconi anemia (FA) is a rare inherited disorder that affects a cell’s ability to sense and repair DNA damage. Disease characteristics include bone marrow failure, developmental abnormalities, and a high lifetime risk of developing cancer. This syndrome is caused by mutations that cause functional impairment of any of 23 Fanconi (FANC) gene family members. The alcohol and aldehyde dehydrogenase gene families are believed to modify the function of FANC genes and may play a role in the disease.
We have catalogued disease causing genetic variation in the FA pathway from multiple sources. We are interested in exploring the prevalence of known FA disease causing genetic mutations in the general population to rule out variants that might not necessarily be associated with the disease.
Project Purpose(s)
- Disease Focused Research (Fanconi's anemia)
- Ancestry
Scientific Approaches
We will study the subset of the All of Us participants who do not have a clinically validated diagnosis of ‘Fanconi Anemia’ and have genomic data available. We will extract genomic variants in the gene families of interest and calculate i) allele frequencies and ii) determine the functional consequences of the population variants in this cohort. We will perform statistical analyses to determine if known disease causing mutations are enriched or depleted in the general population.
Anticipated Findings
We anticipate that we will find low population prevalence of clinically significant or disease-causing mutations from our work. This study will increase the evidence in support of the existing catalog of disease-causing mutations in FA. This may in turn help with genetic-based assessment of genetic mutations related to FA.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierResearch Team
Owner:
- Nyasha Chambwe - Early Career Tenure-track Researcher, Feinstein Institute for Medical Research
Collaborators:
- Kyriaki Founta - Graduate Trainee, Feinstein Institute for Medical Research
Type 2 diabetes and HIV among people of color.
Scientific Questions Being Studied
Type 2 diabetes (T2DM) among persons living with HIV (PLWH) is more prevalent than in the general population (15% vs 11.3%). Based on information in the literature these two diseases appear to occur at a disproportionate rate among people of color. However, little is known about the impact of comorbid HIV and T2DM on glycemic outcomes.
Our objective is to evaluate the prevalence of T2DM and HIV among people of color and the impact of these comorbid diseases on glycemic outcomes.
Project Purpose(s)
- Disease Focused Research (Human immunodeficiency virus infectious disease, type 2 diabetes mellitus)
Scientific Approaches
Our retrospective study design will identify Black non-Hispanic/African-American participants with the indicated co-morbidities. We will assess the glycemic outcomes in this cohort and assess statistical differences between them.
Anticipated Findings
We anticipate that we will be able to confirm higher prevalence of this co-morbidity in the Black non-Hispanic, African-American population. Further, we will determine the impact of comorbid T2DM among persons living with HIV on glycemic outcomes.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Registered TierResearch Team
Owner:
- Nyasha Chambwe - Early Career Tenure-track Researcher, Feinstein Institute for Medical Research
Collaborators:
- Veronica Brady - Early Career Tenure-track Researcher, University of Texas Health Science Center, Houston
Request a Review of this Research Project
You can request that the All of Us Resource Access Board (RAB) review a research purpose description if you have concerns that this research project may stigmatize All of Us participants or violate the Data User Code of Conduct in some other way. To request a review, you must fill in a form, which you can access by selecting ‘request a review’ below.
