Public Profile -- hu1843FC
Public profile url: https://my.pgp-hms.org/profile/hu1843FC
Personal Health Records
None added.Samples
| Saliva Collection for Multiple Studies |
Sample
82546644
(saliva)
received
2012-04-10 16:26:26 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
30894348
(saliva)
received
2012-04-10 16:26:23 UTC
by Harvard University / TeloMe, Inc..
Show log
|
Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2016-05-12 | Complete Genomics | PGP | hu1843FC: var-GS000034213-ASM.tsv.bz2 |
Download
(223 MB) |
View report
• female • 2,762,216,787 positions covered • ref. b37 |
|
| 2014-03-27 | 23andMe | Participant | female42 |
Download
(23.6 MB) |
View report |
Geographic Information
| State: | Colorado |
| Zip code: | 80303 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 3/10/2012 16:25:22. Show responses |
|---|---|
| Timestamp | 3/10/2012 16:25:22 |
| Year of birth | 40-49 years |
| Which statement best describes you? | I am NOT 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 was tested and shown to be a carrier for tay-sachs disease. |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Not applicable |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Not applicable |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Slovakia |
| Paternal grandfather: Country of origin | Poland |
| Maternal grandfather: Country of origin | United States |
| Enrollment of relatives | No |
| Enrollment of older individuals | Yes |
| 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 |
| PGP Participant Survey | Responses submitted 5/24/2012 1:00:16. Show responses |
| Timestamp | 5/24/2012 1:00:16 |
| Year of birth | 40-49 years |
| Which statement best describes you? | I am NOT 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 tested positive as a Tay Sachs carrier, as has a cousin on my father's side of the family. My mother is not a carrier per her testing, which means my father is, though he hasn't been tested. I also have recently been diagnosed with multiple sclerosis, though I do not have typical symptoms. I initially had a brain MRI due to some cognitive issues I was having which I thought were due to migraines, and this showed lesions which was followed by a spinal tap that showed 9 protein bands confirming a differential diagnosis of MS. However, I do not have the typical early symptoms. I believe whatever I do have is genetic in nature because my mother was also diagnosed with MS around the same age. Her symptoms were more compelling in that she had visual issues as well as white matter brain lesions similar to mine, but she only had 3 protein bands. She, too, had cognitive impairment but never took meds and was later told that she had a single incident rather than the disease. However, when I took her records to my MS doctor, a leading doctor in the field, he said that she would now still be considered to have MS due to the current criteria. |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Not applicable |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | Yes |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | I believe that I could access the genetic testing that I had done that verifies I am a tay sachs carrier. My multiple choice answers pertained to this trait, though I could also download info about the MS and may have a relative willing to participate who was also diagnosed. I don't have genetic info on the MS, only MRIs and spinal tap results as well as clinical observation notes. |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Slovakia |
| Paternal grandfather: Country of origin | Poland |
| 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, but I have genetic data and plan to upload it |
| 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: Cancers | Responses submitted 11/23/2012 21:07:01. Show responses |
| Timestamp | 11/23/2012 21:07:01 |
| Other condition not listed here? | brain lesions believed to be from multiple sclerosis |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 11/23/2012 21:07:48. Show responses |
| Timestamp | 11/23/2012 21:07:48 |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 11/23/2012 21:09:33. Show responses |
| Timestamp | 11/23/2012 21:09:33 |
| Have you ever been diagnosed with any of the following conditions? | Thyroid nodule(s), Hypothyroidism, Hashimoto's thyroiditis, High cholesterol (hypercholesterolemia) |
| Other condition not listed here? | psoriasis, lyme's, multiple sclerosis |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 11/23/2012 21:10:57. Show responses |
| Timestamp | 11/23/2012 21:10:57 |
| Have you ever been diagnosed with any of the following conditions? | Iron deficiency anemia |
| Other condition not listed here? | low vitamin D, elevated CA125 |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 11/23/2012 21:18:15. Show responses |
| Timestamp | 11/23/2012 21:18:15 |
| Have you ever been diagnosed with one of the following conditions? | Multiple sclerosis (MS), Migraine with aura |
| Other condition not listed here? | lyme's disease |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 11/23/2012 21:19:21. Show responses |
| Timestamp | 11/23/2012 21:19:21 |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 11/23/2012 21:35:39. Show responses |
| Timestamp | 11/23/2012 21:35:39 |
| Other condition not listed here? | patent foramen ovale with Atrial septal aneurysm |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 11/23/2012 21:36:22. Show responses |
| Timestamp | 11/23/2012 21:36:22 |
| Have you ever been diagnosed with any of the following conditions? | Chronic sinusitis |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 11/23/2012 21:42:29. Show responses |
| Timestamp | 11/23/2012 21:42:29 |
| Have you ever been diagnosed with any of the following conditions? | Dental cavities, Gastroesophageal reflux disease (GERD), Nonalcoholic fatty liver disease (NAFLD) |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 11/23/2012 21:42:01. Show responses |
| Timestamp | 11/23/2012 21:42:01 |
| Have you ever been diagnosed with any of the following conditions? | Kidney stones, Urinary tract infection (UTI) |
| Other condition not listed here? | Elevated CA125 |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 11/23/2012 21:48:08. Show responses |
| Timestamp | 11/23/2012 21:48:08 |
| Have you ever been diagnosed with any of the following conditions? | Eczema, Psoriasis |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 11/23/2012 21:49:19. Show responses |
| Timestamp | 11/23/2012 21:49:19 |
| Have you ever been diagnosed with any of the following conditions? | Bunions, Flatfeet, Scoliosis |
| Other condition not listed here? | scoliosis is very slight |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 11/23/2012 22:22:54. Show responses |
| Timestamp | 11/23/2012 22:22:54 |
| Have you ever been diagnosed with any of the following conditions? | Congenital heart defect |
| Other condition not listed here? | defect is patent foramen ovale with atrial septal aneurysm |
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: Not sure
Do you have absolute pitch? Not sure
Enrollment History
| Participant ID: | hu1843FC |
| Account created: | 2012-02-21 14:57:05 UTC |
| Eligibility screening: | 2012-02-21 14:59:55 UTC (passed v2) |
| Exam: | 2012-02-22 01:12:57 UTC (passed v2) |
| Consent: | 2022-03-23 05:41:19 UTC (passed v20210712) |
| Enrolled: | 2012-02-23 20:24:32 UTC |