Nyasha Chambwe

Early Career Tenure-track Researcher, Feinstein Institute for Medical Research

3 active projects

Duplicate of Phenotype - Type 2 Diabetes (v6)

The Notebooks in this Workspace can be used to implement well-known phenotype algorithms in one’s own research.

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 Tier

Research Team

Owner:

  • Nyasha Chambwe - Early Career Tenure-track Researcher, Feinstein Institute for Medical Research

Population Genetic Variation in Fanconi's Anemia

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…

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 Tier

Research 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.

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…

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 Tier

Research 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
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