Public Profile -- hu3A1B15
Public profile url: https://my.pgp-hms.org/profile/hu3A1B15
Personal Health Records
None added.Samples
| Saliva Re-collection for Multiple Studies |
Sample
68501104
(saliva)
received
2013-02-24 23:23:45 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
61024937
(saliva)
received
2013-02-24 23:23:46 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
28647156
(saliva)
received
2013-01-21 19:28:49 UTC
by hu3A1B15.
Show log
|
Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2014-03-07 | Complete Genomics | PGP | CGI sample GS02269-DNA_C01 from PGP sample |
Download
(237 MB) |
View report | |
| 2013-03-21 | 23andMe | Participant | My 23andMe genome |
Download
(23.6 MB) |
Geographic Information
Not added.Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 7/16/2011 13:32:40. Show responses |
|---|---|
| Timestamp | 7/16/2011 13:32:40 |
| 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. | I have an expanded CAG repeat of 37 in the huntingtin gene, but am asymptomatic (at age 37). CAG repeats of 40 and above are fully penetrant for Huntington's Disease (HD), a rare, fatal neurodegenerative, autosomal dominant disease for which there currently exists no treatment. Although the most common age of onset for HD for those with 40 or more CAG repeats is the 30s, age of onset varies considerably and is inversely correlated with number of CAG repeats. That said, the number of repeats does not account for all of the variation in age of onset, and the conventional wisdom is that secondary genes likely account for the remaining variation. CAG repeats between 35 and 39 (roughly) are associated with reduced penetrance. While clinical HD is rare, "intermediate range" HD alleles, both expressed and unexpressed, are even rarer, at least as represented in the clinic and in the literature. When I was tested, circa 2002, predictions about probability of developing HD within a normal lifetime were based, for each allele in the 35-39 range, on an n of a handful individuals. Based on that data, I was told that the 37 allele confers roughly a 50% chance of developing HD within a normal lifespan, with age of onset varying considerably among the handful of known symptomatic individuals, from the early 30s to the 80s. That said, more recent research questions the basis on which these predictions were made. It's likely that those with intermediate range alleles who are symptomatic or whose relatives (with whom they share secondary genes that may influence penetrance) are symptomatic are probably overrepresented (relative to others carrying an intermediate range allele) in the clinic and, thus, in the data. The incidence of intermediate CAG expansion is almost certainly much higher than the literature suggests, and may be higher than the incidence of 40+ CAG expansion, especially given the possibility of de novo mutations. The parent from whom I inherited this allele also has a 37, is also asymptomatic (at age 62), and has expressed interest in participating in genetic research that may advance knowledge about HD. This parent was also comfortable undergoing partial sequencing (not, of course, including the huntingtin gene) through 23andMe. The grandfather from whom I inherited the allele was asymptomatic for HD upon death (in his early 80s), per clinical evaluations and as confirmed through analysis of brain tissue samples sent to MacLean's (the tissue showed one of the most advanced cases of Alzheimer's-related atrophy, etc. they had ever seen, but no signs of HD). That sample, sent around 2000, may still be available. Members of my extended family have various fully-penetrant alleles (e.g., 45) and to date one member has died from HD. But they would not be interested in participating in the PGP. |
| Disease/trait: Onset | Congenital / present at birth |
| 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 | Not applicable |
| Sex/Gender | Female |
| 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, but I have genetic data and plan to upload it |
| Have you used the PGP web interface to record a designated proxy? | No |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | Yes |
| Uploaded health records: Update status | Yes |
| Uploaded health records: Extensiveness | 3 |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 4/12/2014 10:54:22. Show responses |
| Timestamp | 4/12/2014 10:54:22 |
| Have you ever been diagnosed with one of the following conditions? | Myopia (Nearsightedness), Dry eye syndrome |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 4/12/2014 10:55:53. Show responses |
| Timestamp | 4/12/2014 10:55:53 |
| Have you ever been diagnosed with any of the following conditions? | Dental cavities, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD) |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 4/12/2014 10:56:20. Show responses |
| Timestamp | 4/12/2014 10:56:20 |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 4/12/2014 10:58:19. Show responses |
| Timestamp | 4/12/2014 10:58:19 |
| Other condition not listed here? | Had an "innocent murmur" as a child. But assume that doesn't count as "Congenital heart defect," so didn't check that box. |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 4/12/2014 10:58:48. Show responses |
| Timestamp | 4/12/2014 10:58:48 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 4/12/2014 10:59:17. Show responses |
| Timestamp | 4/12/2014 10:59:17 |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 6/4/2014 12:14:39. Show responses |
| Timestamp | 6/4/2014 12:14:39 |
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? No
Enrollment History
| Participant ID: | hu3A1B15 |
| Account created: | 2010-10-26 19:52:54 UTC |
| Eligibility screening: | 2010-10-26 19:57:25 UTC (passed v2) |
| Exam: | 2010-10-27 23:44:38 UTC (passed v2) |
| Consent: | 2015-08-06 14:30:28 UTC (passed v20150505) |
| Enrolled: | 2010-10-28 17:00:18 UTC |
