Public Profile -- hu911FDC
Public profile url: https://my.pgp-hms.org/profile/hu911FDC
Personal Health Records
None added.Samples
None available.Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2013-11-01 | 23andMe | Participant | 23andme full genome Stephen Duff |
Download
(7.83 MB) |
View report | |
| 2009-11-11 | Pathway genomics | Participant | MTHFR C 6777T GENE MUTATION |
Download
(4.53 MB) |
||
| 2008-08-15 | Porphyria DNA Testing | Participant | HMBS, CPOX and PPOX Genes |
Download
(1.94 MB) |
Geographic Information
| State: | New Jersey |
| Zip code: | 08084 |
Family Members Enrolled
None added.Surveys
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 5/16/2013 8:48:11. Show responses |
|---|---|
| Timestamp | 5/16/2013 8:48:11 |
| Have you ever been diagnosed with one of the following conditions? | Colon polyps, Non-melanoma skin cancer |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 5/16/2013 8:51:36. Show responses |
| Timestamp | 5/16/2013 8:51:36 |
| Have you ever been diagnosed with any of the following conditions? | Chronic bronchitis, Asthma |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 5/18/2013 17:29:35. Show responses |
| Timestamp | 5/18/2013 17:29:35 |
| Have you ever been diagnosed with any of the following conditions? | High cholesterol (hypercholesterolemia), High triglycerides (hypertriglyceridemia), Porphyria |
| PGP Participant Survey | Responses submitted 5/18/2013 18:51:17. Show responses |
| Timestamp | 5/18/2013 18:51:17 |
| Year of birth | 60-69 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. | I have had acute attacks with severe abdominal pain, nausea, vomiting, severe peripheral neuropathy, muscle weakness, seizures, hallucinations, rapid heart rate, severe constipation and/or diarrhea, insomnia, paralysis of gut (food does not move through system). The acute attacks can be caused by stress, infections, alcohol consumption,certain drugs, fasting or even something as simple as being in an elevator with a person wearing strong perfume or other things like car exhaust or bus fumes. My urine becomes fluorescent orange and if placed in sunlight my urine darkens to the color of coke. |
| Disease/trait: Onset | 10-19 years of age |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Very severe disease |
| Disease/trait: Relative enrollment | Yes, I have one or more affected relatives who have expressed an interest |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | Biochemical test results. |
| Sex/Gender | Male |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Ireland |
| Paternal grandfather: Country of origin | United Kingdom |
| Maternal grandfather: Country of origin | United States |
| Enrollment of relatives | No |
| Enrollment of older individuals | Yes |
| Enrollment of parents | No |
| Have you uploaded genetic data to your PGP participant profile? | Yes, I have uploaded 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 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 5/18/2013 18:55:28. Show responses |
| Timestamp | 5/18/2013 18:55:28 |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 5/18/2013 19:00:20. Show responses |
| Timestamp | 5/18/2013 19:00:20 |
| Have you ever been diagnosed with one of the following conditions? | Essential tremor, Bell's palsy, Other peripheral neuropathy |
| Other condition not listed here? | Central Neuropathy |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 5/18/2013 19:08:47. Show responses |
| Timestamp | 5/18/2013 19:08:47 |
| Have you ever been diagnosed with one of the following conditions? | Tinnitus |
| Other condition not listed here? | Fuch's Corneal Dystrophy |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 5/18/2013 19:12:56. Show responses |
| Timestamp | 5/18/2013 19:12:56 |
| Have you ever been diagnosed with one of the following conditions? | Hypertension, Atrial fibrillation, Premature ventricular contractions, Hemorrhoids |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 5/18/2013 19:17:17. Show responses |
| Timestamp | 5/18/2013 19:17:17 |
| Have you ever been diagnosed with any of the following conditions? | Dental cavities, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD), Crohn's disease, Gallstones |
| Other condition not listed here? | Gastroparesis |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 5/18/2013 19:41:12. Show responses |
| Timestamp | 5/18/2013 19:41:12 |
| Have you ever been diagnosed with any of the following conditions? | Kidney stones, Urinary tract infection (UTI) |
| Other condition not listed here? | Erectile dysfunction |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 5/18/2013 19:53:56. Show responses |
| Timestamp | 5/18/2013 19:53:56 |
| Have you ever been diagnosed with any of the following conditions? | Pilonidal cyst, Dandruff, Skin tags |
| Other condition not listed here? | Actinic keratosis; |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 5/18/2013 20:04:20. Show responses |
| Timestamp | 5/18/2013 20:04:20 |
| Have you ever been diagnosed with any of the following conditions? | Lupus, Spinal stenosis, Sciatica, Flatfeet |
| Other condition not listed here? | Radiculopathy |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 5/18/2013 20:14:08. Show responses |
| Timestamp | 5/18/2013 20:14:08 |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 5/18/2013 20:20:54. Show responses |
| Timestamp | 5/18/2013 20:20:54 |
| Have you ever been diagnosed with any of the following conditions? | Lupus, Spinal stenosis, Sciatica, Flatfeet |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? Yes
Enrollment History
| Participant ID: | hu911FDC |
| Account created: | 2013-04-26 20:09:26 UTC |
| Eligibility screening: | 2013-04-26 21:02:52 UTC (passed v2) |
| Exam: | 2013-05-07 01:18:32 UTC (passed v20120430) |
| Consent: | 2015-08-06 14:33:31 UTC (passed v20150505) |
| Enrolled: | 2013-05-11 22:47:28 UTC |