Jacquelyn Shugarts

Undergraduate Student, Arizona State University

3 active projects

Global Genes Xcellerate Rare Disease Data Comparison - Kleefstra Syndrome

After reviewing data provided by Global Gene Open Science Challenge (2023), I will be comparing symptoms I found abnormal that were presented with each rare disease and cross compare to see if they same symptoms are replicated in All of…

Scientific Questions Being Studied

After reviewing data provided by Global Gene Open Science Challenge (2023), I will be comparing symptoms I found abnormal that were presented with each rare disease and cross compare to see if they same symptoms are replicated in All of Us patient data. The goal is to understand if there are unrecognized symptoms associated with a rare disease that should be looked for in patients that could lead to an earlier diagnosis.

Project Purpose(s)

  • Disease Focused Research (Kleefstra syndrome)

Scientific Approaches

After reviewing data provided by Global Gene Open Science Challenge (2023), I will be comparing symptoms I found abnormal that were presented with each rare disease and cross compare to see if they same symptoms are replicated in All of Us patient data. The cross comparison of data is key to have a larger population and replication of results.

Anticipated Findings

To find an unrecognized symptom that should be added to the rare disease symptoms to ensure an earlier diagnosis. Thus leading to a decrease in irreversible symptoms and the patient can seek treatment earlier.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

ASU BIO 340 Duchenne Muscular Dystrophy Research

We will be researching Duchenne Muscular Dystrophy, the affected population, and what resources are available for the said population. Understanding what DMD is will help understand the effects the disease has on the body. Exploring resources for DMD patients, such…

Scientific Questions Being Studied

We will be researching Duchenne Muscular Dystrophy, the affected population, and what resources are available for the said population.
Understanding what DMD is will help understand the effects the disease has on the body.
Exploring resources for DMD patients, such as clinical trials and patient advocacy groups. Gene therapy clinical trials will be viewed specifically.

Project Purpose(s)

  • Disease Focused Research (Duchenne muscular dystrophy)
  • Educational
  • Ancestry

Scientific Approaches

We will be using the All of Us data to understand the affected population and relate them to proposed research from the NIH website about the affected population. Also, reviewing gene therapy clinical trials through clinicaltrials.gov to see which biotechnology or biopharmaceutical companies have trials with gene therapy investigational products. Then exploring the Biotech/pharma for information about the IP and the successes/setbacks that have been presented publicly on their website.

Anticipated Findings

We will find a few clinical trials that have gene therapy investigational products for Duchenne Muscular Dystrophy and gathering the information and patient advocacy groups can help ease patients suffering from DMD and understand their potential options in getting help in various ways.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Collaborators:

  • Victoria Slaughter - Undergraduate Student, Arizona State University
  • Christopher Robinson - Undergraduate Student, Arizona State University

Duplicate of How to Work with All of Us Genomic Data (Hail - Plink)(v6)

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:

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