Research Projects Directory

Research Projects Directory

2,306 active projects

This information was updated 8/17/2022

The Research Projects Directory includes information about all projects that currently exist in the Researcher Workbench to help provide transparency about how the Workbench is being used. Each project specifies whether Registered Tier or Controlled Tier data are used.

Note: Researcher Workbench users provide information about their research projects independently. Views expressed in the Research Projects Directory belong to the relevant users and do not necessarily represent those of the All of Us Research Program. Information in the Research Projects Directory is also cross-posted on AllofUs.nih.gov in compliance with the 21st Century Cures Act.

SCST

What are the risk factors for Septic Cavernous Sinus Thrombosis? What are morbidity and mortality outcomes for Septic Cavernous Thrombosis?

Scientific Questions Being Studied

What are the risk factors for Septic Cavernous Sinus Thrombosis?
What are morbidity and mortality outcomes for Septic Cavernous Thrombosis?

Project Purpose(s)

  • Disease Focused Research (Septic Cavernous Sinus Thrombosis)

Scientific Approaches

Retrospective cohort study. Patients will be included in the disease cohort if they have a past medical history of cavernous sinus thrombosis. Age- and gender-matched controls will be identified who have no history of sinus infections, ischemic or hemorrhagic stroke, cerebral venous thromboembolism.

Aim 1: Logistic regression regression analysis will be used to determine the association between demographic (age, gender race, ethnicity, SES), as well as clinical risk factors (history of craniofacial surgery, sinus infection, congenital craniofacial anomalies, smoking, immunosuppression).
Aim 2: Determine neurologic outcomes and mortality outcomes of patients with septic cavernous sinus thrombosis at one year.

Anticipated Findings

Patients with a history of sinus infections, immunosuppression, male gender and middle age are at higher risk for developing SCST.
SCST is associated with a high rate of mortality and residual neurologic disability.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Omar Halawa - Research Fellow, Johns Hopkins University

Wearables Data and the Human Phenome

Our primary goal is to understand the interaction between activity levels and sleep quality with the development and progression of human disease. Higher physical activity is associated with lower prevalence and better outcomes in virtually every human disease. These analyses…

Scientific Questions Being Studied

Our primary goal is to understand the interaction between activity levels and sleep quality with the development and progression of human disease. Higher physical activity is associated with lower prevalence and better outcomes in virtually every human disease. These analyses will generate hypotheses guiding clinical and research interventions focused on activity and sleep to reduce morbidity and mortality in patients seeking care.

Project Purpose(s)

  • Population Health
  • Social / Behavioral

Scientific Approaches

We will examine the relationship between daily activity (steps, activity intensity) over time and the prevalence and progression of coded human diseases. We will use the Fitbit data, EHR-curated diagnoses, laboratory values, quality of life survey results, and clinical outcomes (hospitalizations/mortality).

Anticipated Findings

We expect to find that lower levels of activity are associated with a higher prevalence and more rapid progression of chronic diseases. These data will provide the rationale to link wearables data with electronic health records nationwide as a window into behavioral activity choice as a modifiable risk factor for chronic diseases. We may find substantial variation in activity and disease prevalence/severity by socioeconomic status, which would motivate studies/interventions to reduce these health disparities.

Demographic Categories of Interest

  • Race / Ethnicity
  • Geography
  • Access to Care
  • Education Level
  • Income Level

Data Set Used

Registered Tier

Research Team

Owner:

  • Shi Huang - Other, Vanderbilt University Medical Center
  • Hiral Master - Project Personnel, All of Us Program Operational Use
  • Evan Brittain - Mid-career Tenured Researcher, Vanderbilt University Medical Center
  • Jeffrey Annis - Other, Vanderbilt University Medical Center

AYA Cancer Survivors - v6

I am examining the All of Us data to understand patient-provider communication patterns and preferences among adolescent/young adult (AYA) cancer survivors. Prior research shows AYA survivors are at risk of disengaging in their care as they transition from pediatric to…

Scientific Questions Being Studied

I am examining the All of Us data to understand patient-provider communication patterns and preferences among adolescent/young adult (AYA) cancer survivors. Prior research shows AYA survivors are at risk of disengaging in their care as they transition from pediatric to adult care settings. Evidence suggests high-quality communication with providers is protective against this disengagement. The questions I hope to answer include: (1) Are there patterns in patient-provider communication by patient age? and (2) What additional factors may be related to patient-provider communication? With the answers to these questions, there may be opportunities for improving healthcare engagement among AYA cancer survivors.

Project Purpose(s)

  • Disease Focused Research (cancer)
  • Population Health
  • Social / Behavioral

Scientific Approaches

First, I will identify a cohort of AYA cancer survivors within the All of Us data. I will explore options for dividing the cohort by age group. It is likely that cell sizes will be too small for reporting aggregated data. As such, I will also explore dividing the cohort by age at diagnosis. If data permits, I will examine differences in access and healthcare utilization.

Anticipated Findings

Taking into account guidelines for transitioning into adult care, I anticipate patient-provider communication to be stronger among older cohorts of AYA survivors compared to younger cohorts. If the contrary is observed, further investigation into communication patterns is needed and may better inform transition practices for AYA survivors.

Demographic Categories of Interest

  • Access to Care

Data Set Used

Registered Tier

Research Team

Owner:

  • Karen Llave - Graduate Trainee, University of California, Irvine

Duplicate of X and Y Chromosome Intensity

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Scientific Questions Being Studied

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Project Purpose(s)

  • Other Purpose (Demonstrate to the All of Us Researcher Workbench users how to get started with the All of Us genomic data and tools. It includes an overview of all the All of Us genomic data and shows some simple examples on how to use these data.)

Scientific Approaches

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Anticipated Findings

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Duplicate of asthma biologic utilization

This research is to evaluate the real-world use, switches, and discontinuations of biologics in the treatment of asthma. Although 6 biologics are currently approved for asthma treatment, relatively little is known about their real-world use and effectiveness. Additionally, there is…

Scientific Questions Being Studied

This research is to evaluate the real-world use, switches, and discontinuations of biologics in the treatment of asthma. Although 6 biologics are currently approved for asthma treatment, relatively little is known about their real-world use and effectiveness. Additionally, there is some evidence that there may be inequitable use and access to these biologics. Furthermore, the patterns of use in individuals who are eligible for two or more of these biologics is currently unknown.

Project Purpose(s)

  • Disease Focused Research (asthma)

Scientific Approaches

Study population: individuals ≥18 years with diagnosis of asthma who were on any of the biologics approved for asthma treatment (omalizumab, benralizumab, mepolizumab, reslizumab, dupilumab) between 2005 to date. We will be using summary statistics in characterizing the incidence of initiation of these biologics, switches from one biologic to another (and when the switch occurred), and/or discontinuation. To evaluate if these switches were due to effectiveness of these biologics, we will evaluate asthma exacerbations while on the biologics. In addition, we will evaluate if these patterns differ by age, sex, or race and ethnicity.

Anticipated Findings

This study will improve our knowledge of real-world use and patterns of use of these biologics and can inform future studies and/or interventions in optimizing the benefits of these biologics.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Housing Insecurity and Mental Wellbeing v6 CT

This exploratory analysis will examine the association between housing insecurity and the impact of COVID-19 on participant health and mental health as measured in the COPE surveys. The initial exploration will assess whether the sample sizes and cross-tabulations are sufficient…

Scientific Questions Being Studied

This exploratory analysis will examine the association between housing insecurity and the impact of COVID-19 on participant health and mental health as measured in the COPE surveys. The initial exploration will assess whether the sample sizes and cross-tabulations are sufficient to proceed with a research project examining the impact of the COVID-19 pandemic on housing insecure individuals, as compared to securely-housed individuals.

Project Purpose(s)

  • Social / Behavioral

Scientific Approaches

This analysis will pull data from the Basics survey and the COPE surveys to examine whether answers in the COPE surveys can be broken down by differential housing circumstances. This will include summary and bivariate analyses.

Anticipated Findings

We hypothesize that housing insecurity will be associated with enduring worse health and mental health outcomes as a result of the COVID-19 pandemic.
This research project seeks to reduce health disparities and improve health equity in underrepresented in biomedical research (UBR) populations.

Demographic Categories of Interest

  • Race / Ethnicity
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Binyu Cui - Graduate Trainee, New York University
  • Chenziheng Weng - Graduate Trainee, New York University

Duplicate of How to Get Started with Registered Tier Data (v6)

We recommend that all researchers explore the notebooks in this workspace to learn the basics of All of Us Program Data. What should you expect? This notebook will give you an overview of what data is available in the current…

Scientific Questions Being Studied

We recommend that all researchers explore the notebooks in this workspace to learn the basics of All of Us Program Data.

What should you expect? This notebook will give you an overview of what data is available in the current Curated Data Repository (CDR). It will also teach you how to retrieve information about Electronic Health Record (EHR), Physical Measurements (PM), and Survey data.

Project Purpose(s)

  • Educational
  • Methods Development
  • Other Purpose (This is an All of Us Tutorial Workspace. It is meant to provide instruction for key Researcher Workbench components and All of Us data representation.)

Scientific Approaches

This Tutorial Workspace contains two Jupyter Notebooks (one written in Python, the other in R). Each notebook is divided into the following sections:

1. Setup: How to set up this notebook, install and import software packages, and select the correct version of the CDR.
2. Data Availability Part 1: How to summarize the number of unique participants with major data types: Physical Measurements, Survey, and EHR;
3. Data Availability Part 2: How to delve a little deeper into data availability within each major data type;
4. Data Organization: An explanation of how data is organized according to our common data model.
5. Example Queries: How to directly query the CDR, using two examples of SQL queries to extract demographic data.
6. Expert Tip: How to access the base version of the CDR, for users that want to do their own cleaning.

Anticipated Findings

By reading and running the notebooks in this Tutorial Workspace, you will understand the following:

All of Us data are made available in a Curated Data Repository. Participants may contribute any combination of survey, physical measurement, and electronic health record data. Not all participants contribute all possible data types. Each unique piece of health information is given a unique identifier called a concept_id and organized into specific tables according to our common data model. You can use these concept_ids to query the CDR and pull data on specific health information relevant to your analysis. See our support article Learning the Basics of the All of Us Dataset for more info.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Iris Hypopigmentation Demo

A demo on AoU to learn about iris hypopigmentation.

Scientific Questions Being Studied

A demo on AoU to learn about iris hypopigmentation.

Project Purpose(s)

  • Disease Focused Research (iris hypopigmentation)

Scientific Approaches

A demo on AoU to learn about iris hypopigmentation.

Anticipated Findings

A demo on AoU to learn about iris hypopigmentation.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Tam Tran - Other, National Institutes of Health (NIH)

Collaborators:

  • Huan Mo - Research Fellow, National Institutes of Health (NIH)
  • David Schlueter - Research Fellow, National Institutes of Health (NIH)

Multivariate analysis of phenome, genome relationships

Our overarching hypothesis is that multivariate characterization of complex cross-phenome, cross-genome, phenome-genome relationships can add sensitive, novel toolsets to the biobank data analyses and have profound impact on biobank-based data research applications. The vast majority of human diseases are multifactorial…

Scientific Questions Being Studied

Our overarching hypothesis is that multivariate characterization of complex cross-phenome, cross-genome, phenome-genome relationships can add sensitive, novel toolsets to the biobank data analyses and have profound impact on biobank-based data research applications. The vast majority of human diseases are multifactorial and complex, and their impacts are widespread and often damaging. Leveraging population-wide data to analyze disease relationships and their multivariate patterns is a promising approach to facilitate our understanding of complex disease etiology and help build tools to assess an individual's disease risk. All of US provides unprecedented opportunities for comprehensive and rigorous quantification of multivariate disease relationships in a large real-world population. In this study, we will investigate and build a set of robust multivariate statistical techniques and tools to analyze the phenome-genome wide relationships and identify indications to precision therapy.

Project Purpose(s)

  • Educational
  • Methods Development
  • Control Set
  • Ancestry

Scientific Approaches

Aim1: Quantify phenome-wide disease multimorbidity, validate and interprete in relevant clinical context. We will quantify multimorbidity as two or more diseases co-occurring more frequently than expected. Characterize it's dynamics using multivariate model such as a network model. Compared with those estimated from other data sources. An expert consensus approach will also be used to evaluate the estimated multimorbidity in case studies implemented with our collaborators
Aim 2: Explore multivariate modeling strategy to phenome-genome relationships. Derive systems-level view of disease molecular mechanisms and build a disease multimorbidity patterns based on genetic associations; Build systems-level discovery strategies for disease pleiotropic effects due to the shared molecular mechanism or gene pathways. We will apply in-depth graphical modeling and analysis to identify the many-to-many relationships between phenome and genome to define disease subtypes.

Anticipated Findings

We expect from this project, with computational experiments and in-depth view of All of US phenome-genome data, to establish the robust estimation methods of disease multimorbidities and a set of novel analytical techniques to characterize complex disease dynamics. Meanwhile, provide novel, systems-level insight to the understanding of interconnected disease etiology, pleiotropic effects of disease genetics, epistasis, genetic-environmental interactions. We hope to provide novel insight for precision medicine such as early disease prevention, better optimized therapeutic strategies, disease subtypes and patient subgroups. We will validate and demonstrate our findings in case studies with clinical context. Other than the contribution to the body of the knowledge, we expect to offer a set of high-quality computed summary data characterizing phenome-genome relationships, with corresponding tools for user-friendly investigation by peer researchers.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Yaomin Xu - Early Career Tenure-track Researcher, Vanderbilt University Medical Center

FBN1 Mutation and Atrial Fibrillation

We believe that tall people with atrial fibrillation may have undiagnosed Marfan Syndrome. Understanding this relationship could improve screening of both atrial fibrillation and Marfan Syndrome. Furthermore this could give insight on the cellular mechanisms at playing possibly aiding in…

Scientific Questions Being Studied

We believe that tall people with atrial fibrillation may have undiagnosed Marfan Syndrome. Understanding this relationship could improve screening of both atrial fibrillation and Marfan Syndrome. Furthermore this could give insight on the cellular mechanisms at playing possibly aiding in better understanding of both Atrial Fibrillation and Marfan Syndromes pathogenesis.

Project Purpose(s)

  • Disease Focused Research (atrial fibrillation)
  • Ancestry

Scientific Approaches

We will start with an Atrial Fibrillation cohort irregardless of age, gender, or ethnicity. From there we will analyze the prevalence of FBN1 mutations in this cohort. FBN1 mutation is the known genetic mutation in Marfan Syndrome. We will then compare the heights of all individuals in the cohort who have both atrial fibrillation and FBN1 mutation to further assess the role height has.

Anticipated Findings

We believe that mutations in FBN1 genes will increase in prevalence in people with atrial fibrillation as their height increases. The results of this study could possibly advocate for an increased awareness for Marfan Syndrome, it could change how we screen for both atrial fibrillation and Marfan Syndrome, and lastly the results could help advance our understanding of the pathogenesis of atrial fibrillation and aid in discovery of future therapeutic interventions

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • JP Turney - Graduate Trainee, Rocky Vista University
  • Cody Majeskie - Graduate Trainee, Rocky Vista University

Complex regional pain syndrome GWAS

Currently there are limited studies exploring the genetic underpinning of complex regional pain syndrome (CRPS). Using this working, I will explore the genetic associations for CRPS. We hope to learn more about CRPS and leverage the identified genetic associations to…

Scientific Questions Being Studied

Currently there are limited studies exploring the genetic underpinning of complex regional pain syndrome (CRPS). Using this working, I will explore the genetic associations for CRPS. We hope to learn more about CRPS and leverage the identified genetic associations to learn more about its biology and identify novel drug targets.

Project Purpose(s)

  • Disease Focused Research (complex regional pain syndrome)
  • Ancestry

Scientific Approaches

We will identify patients with and without complex regional pain syndrome. We will obtain their genotype data to conduct genome wide association study (GWAS) using PLINK. We will control for various covariates such as age, sex, race, etc. We will visualize the GWAS results in R. This is an exploratory analysis, and its aim will be refined after initial results.

Anticipated Findings

We are hoping to conduct the largest GWAS for CRPS to identify genetic underpinning of this disease, and identify novel biological pathways involved the disease process.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Havell Markus - Graduate Trainee, Pennsylvania State University, College of Medicine

GI Bleed Antithrombotics

Anticoagulant and antiplatelet agents (including aspirin) are commonly used medications that are known risk factors for upper gastrointestinal bleeding. Patients are prescribed these agents as monotherapies or as combination therapy, such as double or triple antithrombotic therapy. It is not…

Scientific Questions Being Studied

Anticoagulant and antiplatelet agents (including aspirin) are commonly used medications that are known risk factors for upper gastrointestinal bleeding. Patients are prescribed these agents as monotherapies or as combination therapy, such as double or triple antithrombotic therapy. It is not well understood if long-term monotherapy or combination therapy with these medications affects outcomes for patients who develop UGIB while taking these agents. We aim to investigate post-endoscopic outcomes for patients on antithrombotic therapies who present to the hospital with acute gastrointestinal bleeds.

Project Purpose(s)

  • Disease Focused Research (Gastrointestinal bleeding)

Scientific Approaches

Identify cohort of patients presenting with acute gastrointestinal bleeding and with long-term aspirin monotherapy, double antithrombotic therapy, and triple antithrombotic therapy.

Investigate post-endoscopic outcomes with regression models.

Anticipated Findings

Identifying whether monotherapy or combination therapy of antithrombotics is associated with higher risk of adverse post-endoscopic outcomes will be valuable in guiding decision-making on holding or reinitiating of antithrombotics therapy.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

ML Genetic Diabetes v6

Large-scale genome wide association studies (GWAS) have identified many genetic variants associated with complex diseases. Most GWAS have been developed within European ancestries and have shown to perform poorly in other race/ethnic groups, exaggerating health disparities across ancestries. Scientific aim…

Scientific Questions Being Studied

Large-scale genome wide association studies (GWAS) have identified many genetic variants associated with complex diseases. Most GWAS have been developed within European ancestries and have shown to perform poorly in other race/ethnic groups, exaggerating health disparities across ancestries.

Scientific aim 1: Collection, harmonization and integration of large-scale, multi-ancestry cohorts with diabetes traits across the life-span and genomics for the discovery of genetic variants associated with several forms of diabetes.
Scientific aim 2: Development of methods to improve PRS prediction in non-European populations by using Bayesian approaches that allow integration of linkage disequilibrium and summary statistics from several ancestries.
Scientific aim 3: Development, testing, and comparing performance of PRS for each trait, development of risk prediction tools that integrate clinical and genetic risk factors, and assessment of scenarios where PRS improve the prediction.

Project Purpose(s)

  • Disease Focused Research (type 2 diabetes mellitus, type 1 diabetes mellitus)
  • Educational
  • Drug Development
  • Methods Development
  • Control Set
  • Ancestry

Scientific Approaches

We will integrate GWAS data from other large-scale genetic studies with the ALLofUs data in order to:

1- Maximize the discovery of ancestry-specific genetic variants associated with a variety of forms of diabetes and complications. We will use a variety of genetic association tools, including Regenie, for GWAS analysis, METAL, for meta-analysis of results across ancestries, Finemap and Susie, and COJO to identify distinct signals.

2- Develop PRSs for diverse ancestries. We will use PRS-CS, PRS-CSx and other methods to develop and test PRSs for all ancestries.

3- We will functionally annotate genetic variants using publicly available data like the Roadmap Epigenomics browser, FANTOM, VEP, GNOMAD, etc …

Anticipated Findings

We anticipate that that results of this study will, in part, address health disparities in several ways:

1- We will improve PRSs for all ancestries so that they can be useful for all individuals if applied clinically.

2- We will identify potential drug targets, including some drug targets that can only be identified when analyzing specific ancestries.

3- We will discover novel variants or genes that will help better understand the biology of diabetes and related traits.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Sex at Birth
  • Gender Identity
  • Sexual Orientation
  • Geography
  • Disability Status
  • Access to Care
  • Education Level
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Josephine Li - Research Fellow, Mass General Brigham

Duplicate of Colorectal

Hypothesis - Female sex is associated with higher frequency of stricturing disease and bowel dysfunction in diverticulitis

Scientific Questions Being Studied

Hypothesis - Female sex is associated with higher frequency of stricturing disease and bowel dysfunction in diverticulitis

Project Purpose(s)

  • Disease Focused Research (diverticulitis)

Scientific Approaches

I will develop a cohort of patients with dx of diverticulitis and determine bowel function complications related to sex.

Anticipated Findings

I anticipate substantial differences in bowel dysfunction for patients with diverticulitis related to sex.

Demographic Categories of Interest

  • Age
  • Geography

Data Set Used

Registered Tier

Research Team

Owner:

How are Mosaic Chromosomal Alterations Associated with Risk of Multiple Myeloma

Research question: How is the presence or absence of mosaic chromosomal alterations (mCAs) in a peripheral blood sample associated with incident diagnosis of MGUS and multiple myeloma? - Presence or absence of mCAs will provide further information on the pathogenesis…

Scientific Questions Being Studied

Research question: How is the presence or absence of mosaic chromosomal alterations (mCAs) in a peripheral blood sample associated with incident diagnosis of MGUS and multiple myeloma?
- Presence or absence of mCAs will provide further information on the pathogenesis of multiple myeloma
- In this age of precision medicine, this information will allow us to better inform patients of the risks of mCAs

Project Purpose(s)

  • Disease Focused Research (multiple myeloma)

Scientific Approaches

I plan to build a cohort of adults that do not have a diagnosis of hematologic cancer at the date of sampling. I will run the MoChA algorithm to determine mCA status. I plan to analyze the results using R.

Anticipated Findings

Anticipated findings: mCAs are associated with increased risk of incident MGUS and/or multiple myeloma
- Provide a better understanding of the pathogenesis and identification of patients who may need to be screened for MGUS

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Kelly von Beck - Graduate Trainee, Vanderbilt University Medical Center

Collaborators:

  • Troy von Beck - Graduate Trainee, Emory University

vaginal estrogen and UTI

Does vaginal estrogen prevent urinary tract infection in post-menopausal women? UTI is the most common bacterial infection and the most common hospital acquired infection. Postmenopausal women are at increased risk of UTI and this is thought to be due to…

Scientific Questions Being Studied

Does vaginal estrogen prevent urinary tract infection in post-menopausal women? UTI is the most common bacterial infection and the most common hospital acquired infection. Postmenopausal women are at increased risk of UTI and this is thought to be due to estrogen deficiency. We are investigating whether there is an association between vaginal estrogen and decreased risk of urinary tract infection.

Project Purpose(s)

  • Disease Focused Research (acute cystitis)

Scientific Approaches

We plan to look at women with a diagnosis of genitourinary syndrome of menopause or vulvovaginal atrophy and see how many of them are on vaginal hormonal therapy. We will also investigate to see how many suffer from UTI and recurrent UTI. In addition - we will look at groups of women on therapy and those off therapy to see if there is a difference in infection incidence. We will collect demographic data to control for any confounders.

Anticipated Findings

We anticipate to find that vaginal estrogen does lower the risk of UTI. Currently, the body of scientific is lacking and there is some conflicting evidence.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Duplicate of Neutropenia and Duffy antigen copy

What is the the effect of Fy-/- genotype on WBC and ANC? White blood cell (WBC) counts and absolute neutrophil counts (ANC) are known to vary by race/ethnicity. African American and other populations including Latinos with African ancestry and some…

Scientific Questions Being Studied

What is the the effect of Fy-/- genotype on WBC and ANC?

White blood cell (WBC) counts and absolute neutrophil counts (ANC) are known to vary by race/ethnicity. African American and other populations including Latinos with African ancestry and some Middle Eastern populations have lower WBC counts and lower ANC. Our goal is to identify how WBC and ANC should be interpreted among carriers of Fy -/- genotype.

Project Purpose(s)

  • Disease Focused Research (neutropenia)
  • Population Health
  • Educational
  • Ancestry

Scientific Approaches

We will check distribution of WBC counts and ANC in different populations. Will study the association of Fy -/- genotype and WBC counts and ANC in different populations.

Anticipated Findings

We hope to establish new standards to evaluate WBC counts and ANC in different populations. The results may improve the interpretation of test results of WBC counts and ANC in different populations.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Donglei Hu - Project Personnel, University of California, San Francisco

Reproducing the results of a UK Biobank study on Type 2 Diabetes

The study I am trying to replicate attempted to determine whether genetic ancestry and socioeconomic deprivation (SED) interact to affect one's risk of developing type 2 diabetes and whether this interaction varies depending on genetic ancestry type. Such insight may…

Scientific Questions Being Studied

The study I am trying to replicate attempted to determine whether genetic ancestry and socioeconomic deprivation (SED) interact to affect one's risk of developing type 2 diabetes and whether this interaction varies depending on genetic ancestry type. Such insight may help inform future health interventions.

Project Purpose(s)

  • Other Purpose (I am a research trainee trying to familiarize myself with both the All of Us workspace and working with All of Us data. To accomplish this, I will be attempting to replicate the results of a study conducted by my lab, which was published as an article titled "Socioeconomic deprivation and genetic ancestry interact to modify type 2 diabetes ethnic disparities in the United Kingdom". )

Scientific Approaches

Case / control cohorts will be made with individuals with type 2 diabetes and those without the disease, respectively. Analyses with be done in Python and R.

Anticipated Findings

The results are expected to those of the study I am attempting to replicate - socioeconomic deprivation is expected to increase the likelihood of developing type 2 diabetes among all demographic groups, but this effect is expected to be especially pronounced in individuals of African and Asian ancestry.

Demographic Categories of Interest

  • Race / Ethnicity
  • Access to Care
  • Education Level
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

  • Vincent Lam - Research Fellow, National Institutes of Health (NIH)

PV's Cardiovascular Disease in relation with Health Illteracy

We are exploring the data to formalize a specific research question dealing with how health illiteracy affects the progression of Cardiovascular diseases from primary atherosclerosis. Health Illiteracy is strongly associated with multi-morbidity and lifestyle illnesses, and we would like to…

Scientific Questions Being Studied

We are exploring the data to formalize a specific research question dealing with how health illiteracy affects the progression of Cardiovascular diseases from primary atherosclerosis. Health Illiteracy is strongly associated with multi-morbidity and lifestyle illnesses, and we would like to explore how social and behavioral determinants of health are affected and take effect in the progression of CVD.

Project Purpose(s)

  • Population Health
  • Social / Behavioral

Scientific Approaches

We are still in the beginning stages of our project and have not finalized in our protocol and types of datasets.

Anticipated Findings

We hope to contribute and elicit data showing how health illiteracy affects the progression of CVD.

Demographic Categories of Interest

  • Education Level
  • Income Level

Data Set Used

Registered Tier

Research Team

Owner:

Collaborators:

  • Josh Matacotta - Early Career Tenure-track Researcher, Western University of Health Sciences

Assessment of Feasibility to Study Antiplatelet Pharmacogenomics

The purpose of this research is to establish whether it is feasible to study the pharmacogenomic determinants of antiplatelet therapy response in the AllofUs Program. We would like to estimate the number of participants who have been prescribed various antiplatelet…

Scientific Questions Being Studied

The purpose of this research is to establish whether it is feasible to study the pharmacogenomic determinants of antiplatelet therapy response in the AllofUs Program. We would like to estimate the number of participants who have been prescribed various antiplatelet agents (e.g. clopidogrel, ticagrelor, etc.) as well as the subset of individuals who have experienced a major adverse cardiovascular event during therapy. If feasible, ultimately we would like to identify genetic variants that impact the rates of on-treatment cardiovascular events.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We would like to define cohorts based on antiplatelet medication usage and relevant cardiovascular events using the Cohort Builder and Dataset Builder. Specifically, we will query the number of patients who have been prescribed antiplatelet agents such as clopidogrel, ticagrelor, aspirin, etc. Furthermore, we would like to ascertain the number of patients who have experienced a major adverse cardiovascular event while on therapy. Assuming the sample size seems adequate, power analyses may be performed to determine if genetic analyses are warranted. If it is deemed feasible, a robust analytical strategy will be developed to test for association between genetic markers and related clinical phenotypes in patients who have been prescribed antiplatelet therapy.

Anticipated Findings

We anticipate the AllofUs dataset will contain an adequate number of data points to assess the association between genetic variants and cardiovascular endpoints in those prescribed antiplatelet therapy...at least for those medications that are more commonly prescribed. Assuming the dataset is sufficiently powered, we anticipate that we would be to identify genetic variation that influences antiplatelet therapy response.

Cardiovascular disease remains one of the leading causes of death in the United States. Antiplatelet therapy is routinely used to reduce the rates of recurrent cardiovascular events in those who have suffered an initial event. Understanding the factors that influence response to treatment not only allows us to better understand the mechanistic underpinnings of variable antiplatelet response but may also lead to more personalized strategies to reduce adverse clinical outcomes in those who are prescribed these medications.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

obesity & derm

I am interested in identifying the association between social determinants of health, including race, ethnicity, and gender with dermatological conditions in the overweight-obese patient population.

Scientific Questions Being Studied

I am interested in identifying the association between social determinants of health, including race, ethnicity, and gender with dermatological conditions in the overweight-obese patient population.

Project Purpose(s)

  • Educational

Scientific Approaches

I intend on using social determinant dataset, EHR data (for BMI, waist circumference) . I plan to use basic statistical analysis to interpret my dataset.

Anticipated Findings

I suspect that patients who are obese will have a higher likelihood of dermatological conditions which could be potential modifiable through dietary interventions.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Geography
  • Education Level
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

  • Fernando Diaz - Research Fellow, University of North Carolina, Chapel Hill

Barriers to Care for Patients with Chronic Skin Diseases and US Adults (v6)

Scientific Questions: What are the barriers to care faced by patients with chronic inflammatory skin diseases and adults in general? Which barriers to care may be contributing to the racial and ethnic disparities in health care access and utilization for…

Scientific Questions Being Studied

Scientific Questions: What are the barriers to care faced by patients with chronic inflammatory skin diseases and adults in general? Which barriers to care may be contributing to the racial and ethnic disparities in health care access and utilization for patients with chronic inflammatory skin diseases and adults in general? Importance: Ultimately, by identifying barriers that may be contributing to the disparities in care utilization for patients with chronic inflammatory skin diseases and adults in general, we can lay the groundwork for future research and community efforts to address these barriers and related issues to help close the racial and ethnic gaps in care and to improve patient outcomes.

Project Purpose(s)

  • Population Health

Scientific Approaches

Our research will primarily focus on responses to the Health Care Access and Utilization survey by patients with chronic inflammatory skin diseases (such as psoriasis, acne, atopic dermatitis, hidradenitis suppurativa, etc.) and adults in general. Multivariable logistic regression will be used to calculate adjusted odds ratios to describe the relationship between race and ethnicity and the various barriers to care.

Anticipated Findings

Our hypothesis is that there will be both cost and non-cost related barriers experienced by patients with chronic inflammatory skin diseases and adults in general, suggesting those barriers as potential contributing factors to the disparities in care utilization. Current knowledge in the field has identified that disparities in care and outcomes exist for racial and ethnic minority patients with chronic inflammatory skin diseases and adults in general, and we are building on that knowledge by identifying barriers to care that may be underlying and contributing to those disparities.

Demographic Categories of Interest

  • Race / Ethnicity
  • Access to Care

Data Set Used

Registered Tier

Research Team

Owner:

Epigenetics of Rheumatoid Arthritis in Hispanic/Latino Population

In Hispanic/Latino adults who have a family history of rheumatoid arthritis, what is the relationship between a healthy lifestyle and the development of rheumatoid arthritis?

Scientific Questions Being Studied

In Hispanic/Latino adults who have a family history of rheumatoid arthritis, what is the relationship between a healthy lifestyle and the development of rheumatoid arthritis?

Project Purpose(s)

  • Educational

Scientific Approaches

Population is Hispanic/Latino Adults who have a family history of RA. I will use surveys on family medical history, personal medical history, lifestyle, and basics to identify different lifestyle factors to assess and demographics of the sample.

Anticipated Findings

Anticipate discovering health behaviors that promote or reduce the development of RA in those that are genetically predisposed. This can help with prevention counseling in those with a family history of autoimmune disorders RA. Will develop research with a minority population which is a general gap in research.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Sheri Rowland - Senior Researcher, University of Nebraska Medical Center
  • Kevin Kupzyk - Project Personnel, University of Nebraska Medical Center

Panniculitis Exploratory Analysis

Panniculitis is an uncommon condition characterized by inflammation of subcutaneous fat. It is clinically a diagnostic challenge because there are many forms of panniculitis with different etiologies that closely resemble each other. In this workbench, we will explore data related…

Scientific Questions Being Studied

Panniculitis is an uncommon condition characterized by inflammation of subcutaneous fat. It is clinically a diagnostic challenge because there are many forms of panniculitis with different etiologies that closely resemble each other. In this workbench, we will explore data related to panniculitis to improve our understanding of the current epidemiology, associated comorbidities, and associated treatments.

Project Purpose(s)

  • Disease Focused Research (panniculitis)

Scientific Approaches

The All of Us dataset will be used to describe the epidemiology of panniculitis. Association testing will be used to determine what comorbidities are associated with panniculitis.

Anticipated Findings

With this study, we aim to explore the burden of panniculitis among different age, racial, and ethnic groups. We aim to show associations between panniculitis and other diseases. We also hope to understand which and how therapeutics are currently employed. We hope this study will help improve treatment of panniculitis.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Jill Shah - Graduate Trainee, New York University

ABO PheWAS - Registered Tier

What novel disease associations, if any, with RBC and antigen types can be identified in a diverse cohort? Relevance: Approximately fifteen percent of documented transfusion-related fatalities are the result of hemolytic transfusion reactions due to blood group antibodies. Sensitization to…

Scientific Questions Being Studied

What novel disease associations, if any, with RBC and antigen types can be identified in a diverse cohort?
Relevance: Approximately fifteen percent of documented transfusion-related fatalities are the result of hemolytic transfusion reactions due to blood group antibodies. Sensitization to RBC antigens can also result in a risk for delayed or acute hemolytic transfusion reactions, for fetal anemia, and complications in pregnancy. In addition, genomic variation in RBC and PLT antigens is associated with a myriad of conditions. The ABO locus alone is associated with many conditions including venous thromboembolism (VTE), pancreatic cancer, malaria, and COVID-19. Furthermore, it is not common practice to extensively type beyond the traditional ABO and RhD blood groups, and the studies that do so are primarily done in individuals of European ancestry. Thus, we seek to do the first PheWAS on extensively typed RBC and PLT antigens and to do so in a diverse cohort.

Project Purpose(s)

  • Disease Focused Research (red blood cell (RBC) antigen-associated diseases)

Scientific Approaches

We plan to employ the phenome-wide association study (PheWAS) approach to identify associations between RBC and PLT antigen types and other clinical phenotypes. Separate PheWAS will be carried out using multivariable linear regression and logistic regressions with each blood and platelet group (ABO, RH, MNS, GPIV, etc.) that can be automatically typed by bloodTyper and is described in BloodAntigens.com. For example, in the case of the ABO blood group, ABO blood subtypes (A101, A102, Aw01, B101, etc.) will act as the independent variable and phenotypes, derived from participant provided information (PPI) electronic health records (EHR), as the dependent variable. Initial models will include adjustments for age, gender, race/ethnicity, BMI, and smoking status. We will also carry out sex-specific analyses (reported sex at birth: male or female) and race/ethnicity-specific analyses (self-reported race/ethnicity: White, Black, Hispanic, and Asian).

Anticipated Findings

We also aim to replicate known RBC-disease associations as well as identify any novels ones that may be identified within a diverse cohort.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

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