AoU Research Priorities Use Cases

Submitted by (@winnde)

Understand the health of people with complex patterns based on underserved-in-biomedical-research characteristics

Research on populations underserved in biomedical research (UBR) is often based on single UBR characteristics or combined age-race-ethnicity-sex groupings. However there are population subgroups with particularly concerning constellations of UBR characteristics and very poor health status (e.g., persons without health insurance who live in rural Appalachia). All of Us can provide a more complete picture of the extent, ...more »

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Submitted by (@laura.kwako)

Why do so few people seek specific treatment for alcohol use disorder?

Alcohol use disorder (AUD) is a common problem with a significant public health impact. Despite available treatments of various types, fewer than 10% of individuals diagnosed with an AUD receive specific treatment for this disease. Identifying the factors that prevent individuals from seeking treatment could better improve access to treatment, thereby eliminating disease burden.

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Submitted by (@eric.sid)

What genetic markers can lead to early diagnosis of late-onset rare diseases (Huntington, Crohn, CMT, ALS, etc.)?

Most rare diseases, defined as those affecting fewer than 200,000 people, are genetic disorders with signs observable at birth or in childhood. However, a number have adult-onsets, such as Crohn, Charcot-Marie-Tooth, ALS or thyroid cancer. Of this subset, many have not been linked to a single genetic mutation or origin and similarly, do not have a usable biomarker for early diagnosis. Are there any genetic markers that ...more »

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Submitted by (@ginawei)

Need for comprehensive surveillance and a uniform definition of Sudden Cardiac Death (SCD) in All of Us

Sudden Cardiac Death (SCD) affects ~300,000 Americans annually. The majority of these deaths do not occur in those at high risk for SCD, but rather in the general population where most are not known to have heart disease at the time of the event. A critical obstacle for study of risk stratification and prevention of SCD is the need for a very large cohort with comprehensive surveillance and a uniform definition of SCD ...more »

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Submitted by (@carterrob)

How do autoimmune diseases start?

Many autoimmune diseases are characterized by the presence of autoantibodies. These may be present long before disease starts, but what triggers the transition from autoimmunity (the presence of the antibodies) to disease is unknown, but is likely to include both environmental exposures and genetic susceptibility. What are the risk factors for the transition to disease? Are these modifiable? In which patients is the risk ...more »

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Submitted by (@cwilliams)

What are the determinate of successful treatment for Lyme disease

Diagnostic uncertainty, diffuse symptoms and a failure to notice tick bites (especially when bitten by larvae or nymphs) complicate ID of early disease. Early disease can be effectively treated with short course doxycycline but late stage is more difficult. A licensed vaccine was pulled due to low uptake in part because there was a suggestion that some HLA subtypes developed RA. Gaps exist in Lyme epidemiology necessary ...more »

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Submitted by (@alison.cernich)

What are the characteristics of people who sustain traumatic injury who have optimal recovery versus those who do not?

Injury to the musculoskeletal system, the central and peripheral nervous system, or other conditions that cause disability are associated with significant morbidity. These injuries have substantial economic cost due to inability to work, high health care costs, and the need for long-term rehabilitation. Bioarkers of plasticity and contextual factors may predict functional outcome and guide prescription of the intensity ...more »

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Submitted by (@jatkinso)

What genetic factors are associated with aggressive periodontitis?

Aggressive periodontitis (AgP) is a severe type of periodontal disease (PD) that affects younger patients (< 30 years), with the highest prevalence in populations of African descent. Features include bone loss around teeth, familial aggregation, and altered neutrophil function. Unraveling the genetic architecture of AgP may help us understand the molecular mechanisms underlying AgP and chronic PD, and could identify ...more »

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Submitted by (@yentram.huyen)

EXAMPLE : What are the characteristics of people who sustain fractures, compared to those who don’t?

This study will focus on the entire cohort ages 50 or older and provide outcomes on bisphosphonate use and movement. The information will help to develop more precise strategies to target individuals who would benefit from bisphosphonates or other interventions for the prevention of bone fractures.

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Submitted by (@dave.kaufman)

Are there differences in interest, uptake and use of genetic and nongenetic individual research results for a given condition?

returning genetic risk information to individuals is a potentially important component of personalized medicine in individuals, families, and communities. Communicating other non-genetic risk factors could conceivably have similar or additional effects. Make different types of measure available to participants, measure views, downloads, shares, subsequent actions. Understanding which data are viewed, and used could ...more »

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Submitted by (@jatkinso)

What genetic factors are associated with oral cancer (OC) and oropharyngeal cancer (OPC)?

Tobacco and alcohol use and persistent oral infection with human papillomavirus (HPV) are risk factors for oral cancer (OC) and oropharyngeal cancer (OPC). CDC estimates that approximately 60% of OPC cases in the United States are caused by HPV types 16/18. Previous studies (GWAS) suggest genetic factors are associated with an increased risk of developing HPV-related OPCs. Assessing genetic factors in a large population ...more »

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