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PGP Participant Survey
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Responses submitted 8/26/2012 13:42:24.
Show responses
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| Timestamp |
8/26/2012 13:42:24 |
| Year of birth |
30-39 years |
| Which statement best describes you? |
I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait |
Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
Glycogen Storage Disease Type V (McArdle's Disease), autosomal recessive related to the PYGM gene responsible for creation of phosphorylase enzymes in skeletal muscle cells. Prevelence in the general populations estimated as 1 in 100,000, though rate of diagnosis is only 10-15% of that figure. First symptoms encountered around age 5-7 (severe leg cramps), diagnosis not made until age 28 (but not for lack of trying, darn it). |
| Disease/trait: Onset |
Congenital / present at birth |
| Disease/trait: Rarity |
Very rare/uncommon |
| Disease/trait: Severity |
Moderate severity disease |
| Disease/trait: Relative enrollment |
Maybe |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
No |
| Sex/Gender |
Male |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
No |
| Enrollment of parents |
Maybe |
| Have you uploaded genetic data to your PGP participant profile? |
No, I have no genetic data. |
| Have you used the PGP web interface to record a designated proxy? |
Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? |
No, but I plan to |
| Blood sample |
Yes |
| Saliva sample |
Yes |
| Microbiome samples |
Yes |
| Tissue samples from surgery |
Yes |
| Tissue samples from autopsy |
Yes |