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AoU Research Priorities Use Cases

Can mobile health technology monitor/ track spirometry and detect acute decompensation in childhood asthma?

Acute exacerbation accounts for frequent and recurrent ER visits in children with asthma. Genetic susceptibility and interaction with factors such as infection/inflammation, exposure to environmental pollutants may contribute to acute decompensation. Predictive modeling using multiple data points including genetic variants, environmental exposure, and self monitored spirometry may help with early detection and intervention... more »

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Conduct a research on the effect of physical exercise on the on post Natal depression.

Cohort study will be done by recruiting mothers at their first year of giving birth to their baby. The intervention can be both health center oriented or home based physical exercise coaching. Weekly Edinburgh post Natal depression scale will be used to followup how their feelings and physical as well as emotional health is being improved. The result can be compared against previously conducted research on mother's or... more »

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Estimate risk for common disease such as diabetes from genetic factors, dietary habits, and geolocalization data

Estimate risk for common disease or health outcomes based on known genetic factors combined with novel environmental data types such as proximity to food sources and pollution and laboratory measures of pollutant exposure, for example, what is the relative risk of genetic factors for diabetes compared to dietary habits and proximity to grocery stores?

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Investigate penetrance of known disease associated rare variants for rare disease eg APS1

The goal of this study is to ascertain clinical implications of rare variants associated with rare disease such as autoimmune polyglandular syndrome type 1. Whole genome sequencing will discover variants known to cause disease, likely in individuals not carrying the diagnosis. Using existing phenotypes or potentially with recontact to participants physiological impact of variants on health and disease can be understood.... more »

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Understand implications of rare deleterious variants in an unselected population

The goal of this study is to ascertain clinical implications of rare genetic variants predicted to be deleterious discovered in individuals not carrying the diagnosis. Using existing phenotypes or potentially with recontact to participants physiological impact of variants on health and disease can be understood.

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Investigate impact of pharmacogenomics on real world prescribing practices and medication use

The goal of this study is to understand pharmacogenetic and other predictors of adverse effects of medications and therapeutic failure enabled by aggregation of claims data and pharmacy fill data from multiple sources over many years.
For example, does treatment failure of proton pump inhibitors in genetic hypermetabolizers cause increased surgical procedures and how do drugs interact in patients treated with multiple... more »

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Can mobile health technologies such as FitBit or Apple watch recapitulate known disease monitoring

The goal of this study is to understand if mobile technologies can contribute clinically meaningful metrics. By analyzing mobile technology over time and comparing to available clinical health records, supervised and unsupervised machine learning can be applied to understand potential of this technology in clinical care and outcomes.

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Do diagnostic markers differ across racial and ethnic groups and contribute to health disparities?

The goal of this study is to research underlying causes of health disparities using existing data and novel data sources for example is diagnosis and treatment of diabetes different across ethnic groups, does a1c vary by G6PD genotype and does follow up and a1c target differ by diversity standards.

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How are body fat and activity level related to pregnancy outcomes in normal or high BMI athletes with normal ovulatory function?

The goal would be to examine how body fat, pre-pregnancy, and activity levels before and during pregnancy were related to pregnancy outcomes (e.g., miscarriage, full-term, low birthweight, etc.) in athletes with a normal or high BMI and normal ovulatory function; prior studies focus solely on BMI, which is often an inaccurate measure for athletes. All of Us should collect data on body fat preconception, physical activity... more »

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Conduct research to understand the pathogenesis of Lipedema so as to differentiate between Obesity and Lymphedema.

Lipedema is an underdiagnosed or misdiagnosed Adipose Disorder that is often mistaken for Obesity or Lymphedema. It is estimated that 1 out of 9 adult females suffer from this fat disorder that is marked by an abnormal deposition of fat in the lower body that is resistant to diet and exercise. Research into the pathogenesis of Lipedema would lead to better diagnostic methods and treatment modalities. Genetics are thought... more »

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Neighborhood-Scale Air Quality Testing for Substances of Concern in Consumer Products + Engagement, Metabolome & Health Tracking

Neighborhoods nominated for testing by underserved, understudied vulnerable persons with environmental injuries and illnesses including toxicant-induced loss of tolerance (TILT), multiple chemical sensitivities, toxicant-induced encephalopathies, myalgic encephalomyelitis (ME), CFS & asthma.  

Of particular concern on the neighborhood scale are pesticides and hydrophobic organic chemicals -- especially those emitted... more »

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Evaluate the impact of circadian clock and sleep on health and diseases prevention, progression, and treatment across lifespan

Circadian clock and/or sleep disruptions have been suggested associated with health and disease outcome. A systematic longitudinal follow up over lifespan is needed to understand the underlining mechanisms. All of Us project could provide such opportunity to evaluate the dynamic relationships of circadian clock and sleep with other multi-level factors, such as, lifestyle (diet, exercise and mental health) and behavior,... more »

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