(@trollop)

AoU Research Priorities Use Cases

What is the prevalence of Ehlers-Danlos in chronic pain patients

Conduct the Brighton and Brighton screening tests on all pain patients to screen for Ehlers-Danlos. This is especially relevant for fibromyalgia and idiopathic joint pain groups who have not had a diagnosis yet. Goal would be to recognize that this is not a rare disease, and hopefully start screening children to prevent long term chronic pain, as well as getting answers to patients that have historically been neglected... more »

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3 votes
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(@dgormanj)

AoU Research Priorities Use Cases

What is the prevalence of hereditary hemochromatosis in the U.S. population?

Looking for the hereditary hemochromatosis gene (carriers or people who have this recessive disease) in DNA sequencing and blood tests. Testing ferritin, transferritin saturation, TIBC, and iron levels in patient blood labs; testing liver function in patient blood labs; testing chemical panel with glucose in patient blood labs; testing CBC in patient blood labs; testing lipid panel (cholesterol, triglycerides, HDL,... more »

Voting

3 votes
Ideate
(@dgormanj)

AoU Research Priorities Use Cases

What is the prevalence of hereditary hemochromatosis in the U.S. population?

Looking for the hereditary hemochromatosis gene (carriers or people who have this recessive disease) in DNA sequencing and blood tests. Testing ferritin, transferritin saturation, TIBC, and iron levels in patient blood labs; testing liver function in patient blood labs; testing chemical panel with glucose in patient blood labs; testing CBC in patient blood labs; testing lipid panel (cholesterol, triglycerides, HDL,... more »

Voting

3 votes
Ideate

AoU Research Priorities Use Cases

Does "race" as self-identified by patients meaningfully correlate with DNA?

Ask participants to self-identify "race" as they would be asked on many organizational forms, such as employment, school, and insurance forms. Examine if DNA of participants correlates with their self-identified "race." My theory is "race" is a meaningless categorization of most people, but nevertheless people often use social categories without significant correlation with DNA. If true, then the All Of Us data could... more »

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10 votes
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(@geneticfp)

AoU Research Priorities Use Cases

What is the population genetics of genes that code for drug-metabolizing enzymes? Do any correlate with drug reactions?

1) Collect the genetics of drug metabolizing enzymes from the genetic samples in the All Of Us study. 2) Describe the population genetics of these specific genes. How many people are normal (extensive metabolizers, EMs)? How many have other profiles? How many genes is the "average person" abnormal for? 3) By collecting data for "allergies" (some of which are intolerances, not true allergies) and medication reactions requiring... more »

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14 votes
Ideate
(@geneticfp)

AoU Research Priorities Use Cases

What is the population genetics of genes that code for drug-metabolizing enzymes? Do any correlate with drug reactions?

1) Collect the genetics of drug metabolizing enzymes from the genetic samples in the All Of Us study. 2) Describe the population genetics of these specific genes. How many people are normal (extensive metabolizers, EMs)? How many have other profiles? How many genes is the "average person" abnormal for? 3) By collecting data for "allergies" (some of which are intolerances, not true allergies) and medication reactions requiring... more »

Voting

14 votes
Ideate