Personal Genome Project

Log in  

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
2012-04-10 16:26:26 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-03-10 13:00:18 UTC hu1843FC Sample returned to researcher
2012-03-08 21:41:54 UTC hu1843FC Sample received by participant
2012-03-06 21:27:11 UTC Harvard University / TeloMe, Inc. Sample sent
2012-02-09 21:40:37 UTC Harvard University / TeloMe, Inc. Sample created
Sample 30894348 (saliva) received 2012-04-10 16:26:23 UTC by Harvard University / TeloMe, Inc..   Show log
2012-04-10 16:26:23 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-03-10 13:00:18 UTC hu1843FC Sample returned to researcher
2012-03-08 21:41:54 UTC hu1843FC Sample received by participant
2012-03-06 21:27:11 UTC Harvard University / TeloMe, Inc. Sample sent
2012-02-09 21:40:38 UTC Harvard University / TeloMe, Inc. Sample created

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:2015-08-06 14:31:35 UTC (passed v20150505)
Enrolled:2012-02-23 20:24:32 UTC