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Public Profile -- hu27FD1F

Public profile url: https://my.pgp-hms.org/profile/hu27FD1F

Personal Health Records

Demographic Information

Date of Birth1942-04-07 (75 years old)
GenderFemale
Weight
Height5ft 7in (170cm)
Blood TypeO+
RaceWhite

Conditions

Name Start Date End Date
advanced sleep phase syndrome
ASTHMA 1946-01-01 1952-01-01
Astigmatism
Cervical Dysplasia 1988-01-01 1988-01-01
Hearing Loss 1950-01-01
Hypertension 2006-01-01
Nearsightedness 1952-01-01
Obesity
Osteoarthritis
Snoring
Tendinitis

Medications

Name Dosage Frequency Start Date End Date
Lisinopril 20 mg Tablet Take 1, 1 time per day 2006-01-01
Omega-3 Fatty Acids 1,000 mg Capsule Take 1, 1 time per day 2009-01-01
Relafen 750 mg Tablet Take 1, 2 times per day 2008-01-01
Vitamin D 1,000 unit Capsule Take 2, 1 time per day in the morning 2010-05-01

Allergies

Name Reaction/Severity Start Date End Date

Procedures

Name Date
Knee Arthroscopy
Knee Replacement
MR Knee - Without Contrast

Test Results

Name Result Date
Height 67 inches 2009-08-05

Immunizations

Name Date

Updated: 2010-10-12T11:39:04.415Z

Samples

Saliva Collection Pilot Study for 100 participants Sample 72259845 (saliva) received 2011-12-02 20:46:22 UTC by Harvard University / TeloMe, Inc..   Show log
2012-04-12 21:02:46 UTC Harvard University / TeloMe, Inc. A new sample 85587197 was derived from this sample
2011-12-02 20:46:29 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 92569876 (id=4) well D02 (id=38)
2011-12-02 20:46:22 UTC Harvard University / TeloMe, Inc. Sample received by researcher (scan)
2011-08-24 03:03:15 UTC hu27FD1F Sample returned to researcher
2011-08-09 20:20:16 UTC hu27FD1F Sample received by participant
2011-08-02 15:09:47 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:20 UTC Harvard University / TeloMe, Inc. Sample created
Sample 49063258 (saliva) received 2011-12-02 20:19:12 UTC by Harvard University / TeloMe, Inc..   Show log
2012-04-12 21:02:46 UTC Harvard University / TeloMe, Inc. A new sample 74383198 was derived from this sample
2011-12-02 20:19:20 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 92569876 (id=4) well D01 (id=37)
2011-12-02 20:19:12 UTC Harvard University / TeloMe, Inc. Sample received by researcher (scan)
2011-08-24 03:03:15 UTC hu27FD1F Sample returned to researcher
2011-08-09 20:20:16 UTC hu27FD1F Sample received by participant
2011-08-02 15:09:47 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:20 UTC Harvard University / TeloMe, Inc. Sample created
Sample 49557819 (saliva) mailed 2011-08-24 03:03:15 UTC by hu27FD1F.   Show log
2011-08-24 03:03:16 UTC hu27FD1F Sample returned to researcher
2011-08-09 20:20:16 UTC hu27FD1F Sample received by participant
2011-08-02 15:09:47 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:20 UTC Harvard University / TeloMe, Inc. Sample created
Saliva Collection for Multiple Studies Sample 30602864 (saliva) mailed 2012-01-17 10:13:41 UTC by hu27FD1F.   Show log
2012-04-12 21:05:42 UTC Harvard University / TeloMe, Inc. A new sample 67349084 was derived from this sample
2012-01-17 10:13:41 UTC hu27FD1F Sample returned to researcher
2012-01-10 23:56:03 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 25942764 (id=13) well A06 (id=6)
2011-12-21 11:56:59 UTC hu27FD1F Sample received by participant
2011-12-17 15:06:43 UTC Harvard University / TeloMe, Inc. Sample sent
2011-12-08 16:47:42 UTC Harvard University / TeloMe, Inc. Sample created
Sample 90064225 (saliva) mailed 2012-01-17 10:13:41 UTC by hu27FD1F.   Show log
2012-04-12 21:06:03 UTC Harvard University / TeloMe, Inc. A new sample 45162448 was derived from this sample
2012-01-17 10:13:41 UTC hu27FD1F Sample returned to researcher
2012-01-11 00:25:20 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 11192313 (id=14) well A06 (id=6)
2011-12-21 11:56:59 UTC hu27FD1F Sample received by participant
2011-12-17 15:06:43 UTC Harvard University / TeloMe, Inc. Sample sent
2011-12-08 16:47:42 UTC Harvard University / TeloMe, Inc. Sample created
Saliva Re-collection for Multiple Studies Sample 69580261 (saliva) received 2012-09-27 03:18:26 UTC by Harvard University / TeloMe, Inc..   Show log
2012-09-27 03:18:26 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-27 03:18:26 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-12 20:49:11 UTC hu27FD1F Sample received by participant
2012-08-21 15:30:01 UTC Harvard University / TeloMe, Inc. Sample sent
2012-03-06 15:30:05 UTC Harvard University / TeloMe, Inc. Sample created
Sample 49700126 (saliva) received 2012-09-27 03:18:44 UTC by Harvard University / TeloMe, Inc..   Show log
2012-09-27 03:18:44 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-27 03:18:44 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-12 20:49:11 UTC hu27FD1F Sample received by participant
2012-08-21 15:30:01 UTC Harvard University / TeloMe, Inc. Sample sent
2012-03-06 15:30:05 UTC Harvard University / TeloMe, Inc. Sample created
Sample 92634583 (saliva) received 2012-09-27 03:18:20 UTC by Harvard University / TeloMe, Inc..   Show log
2012-09-27 03:18:20 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-27 03:18:20 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2012-09-12 20:49:11 UTC hu27FD1F Sample received by participant
2012-08-21 15:30:01 UTC Harvard University / TeloMe, Inc. Sample sent
2012-03-06 15:30:05 UTC Harvard University / TeloMe, Inc. Sample created

Uploaded data

Date Data type Source Name Download Report
2014-02-17 Complete Genomics PGP CGI sample GS02269-DNA_B04 from PGP sample Download
(225 MB)
View report
23andMe Participant LF5489.bam Download
(3.63 GB)
23andMe Participant LF5489.bai Download
(5.93 MB)
23andMe Participant LF5489.vcf.gz Download
(6.51 MB)
23andMe Participant LF5489.report.pdf Download
(787 KB)
2011-03-03 23andMe Participant v2 Illumina 550K plus custom "i" SNPs Download
(4.84 MB)
View report
• female
• 573,318 positions covered
• ref. b36

Geographic Information

State:California

Family Members Enrolled

None added.

Surveys

PGP Participant Survey Responses submitted 7/17/2011 13:19:37. Show responses
Timestamp 7/17/2011 13:19:37
Year of birth 70-79 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. Autosomal dominant non-syndromic progressive sensorineural hearing impairment. It is detectable in early childhood and progresses gradually to the point where cochlear implants are indicated in older family members. Our extended family has participated in several genetic studies, but the gene has not been identified. By testing at 23andMe for six relatives with the impairment and several without, I have been able to narrow down the region to about 16Mb on chromosome 15. I also have father/mother/child data for phasing and I can identify the haplotype. None of the 50+ genes currently implicated in hearing loss are found in this region, and in fact, no genes clearly identified with hearing function in general. Identification of the mutation in our family would thus contribute to the understanding of genes important for normal function.
Disease/trait: Onset Before 10 years of age
Disease/trait: Rarity Uncommon
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation No
Disease/trait: Documentation Yes
Disease/trait: Documentation description A set of audiograms for various family members at different ages (with names redacted)
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 Yes
Enrollment of parents No
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 No
Tissue samples from autopsy Yes
PGP Trait & Disease Survey 2012: Cancers Responses submitted 5/2/2014 19:01:58. Show responses
Timestamp 5/2/2014 19:01:58
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity Responses submitted 5/2/2014 19:02:32. Show responses
Timestamp 5/2/2014 19:02:32
PGP Trait & Disease Survey 2012: Blood Responses submitted 5/2/2014 19:03:07. Show responses
Timestamp 5/2/2014 19:03:07
PGP Trait & Disease Survey 2012: Nervous System Responses submitted 5/2/2014 19:03:57. Show responses
Timestamp 5/2/2014 19:03:57
Other condition not listed here? sleep apnea
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 5/2/2014 19:04:48. Show responses
Timestamp 5/2/2014 19:04:48
Have you ever been diagnosed with one of the following conditions? Sensorineural hearing loss or congenital deafness
PGP Trait & Disease Survey 2012: Circulatory System Responses submitted 5/2/2014 19:05:19. Show responses
Timestamp 5/2/2014 19:05:19
Have you ever been diagnosed with one of the following conditions? Hypertension
PGP Trait & Disease Survey 2012: Respiratory System Responses submitted 5/2/2014 19:05:45. Show responses
Timestamp 5/2/2014 19:05:45
Have you ever been diagnosed with any of the following conditions? Asthma
PGP Trait & Disease Survey 2012: Digestive System Responses submitted 5/2/2014 19:06:19. Show responses
Timestamp 5/2/2014 19:06:19
Have you ever been diagnosed with any of the following conditions? Dental cavities
PGP Trait & Disease Survey 2012: Genitourinary Systems Responses submitted 5/2/2014 19:06:50. Show responses
Timestamp 5/2/2014 19:06:50
Have you ever been diagnosed with any of the following conditions? Urinary tract infection (UTI)
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 5/2/2014 19:07:25. Show responses
Timestamp 5/2/2014 19:07:25
Have you ever been diagnosed with any of the following conditions? Acne
PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue Responses submitted 5/2/2014 19:09:08. Show responses
Timestamp 5/2/2014 19:09:08
Have you ever been diagnosed with any of the following conditions? Osteoarthritis, Plantar fasciitis
Other condition not listed here? iliotibial band syndrome, shoulder bursitis
PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies Responses submitted 5/2/2014 19:09:36. Show responses
Timestamp 5/2/2014 19:09:36
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 5/2/2014 19:13:52. Show responses
Timestamp 5/2/2014 19:13:52
Have you ever been diagnosed with one of the following conditions? Age-related cataract, Myopia (Nearsightedness), Sensorineural hearing loss or congenital deafness

Absolute Pitch Survey [see all responses]

Can tell if notes are in tune: Yes
Can sing a melody on key: No
Can recognize musical intervals: No
Do you have absolute pitch? No

Enrollment History

Participant ID:hu27FD1F
Account created:2009-05-29 14:50:40 UTC
Eligibility screening:Not passed yet.
Exam:2009-05-29 15:19:12 UTC (passed v1)
Consent:2015-08-06 14:28:26 UTC (passed v20150505)
Enrolled:2010-10-10 16:12:37 UTC