Personal Genome Project: huAA53E0

Public Profile -- huAA53E0

Public profile url: https://my-dev.pgp-hms.org/profile/huAA53E0

Personal Health Records

Demographic Information

Date of Birth
Gender	Male
Weight	170lbs (77kg)
Height	6ft 2in (187cm)
Blood Type	B+
Race	White

Conditions

Name	Start Date	End Date
Blue rubber bleb nevus syndrome	1980-12-31
CENT SEROUS RETINOPATHY
CENT SEROUS RETINOPATHY
CENT SEROUS RETINOPATHY
CENT SEROUS RETINOPATHY
CENT SEROUS RETINOPATHY
Central serous chorioretinopathy
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
CYSTOID MACULAR DEGENERATION
Headache
Headache
Hemangioma	2000-12-31
Knee Pain	2006-06-06	2006-09-21
MIGRAINE WITH AURA, W/O MENTION OF INTRA
MIGRAINE WITH AURA, W/O MENTION OF INTRA
MIGRAINE WITH AURA, W/O MENTION OF INTRA
Narcolepsy	1984-12-31
SEROUS DETACH PIGM EPITH
SEROUS DETACH PIGM EPITH
SEROUS DETACH PIGM EPITH
Sleep Paralysis	2008-12-31
UNSPECIFIED DISORDER OF ORBIT
UNSPECIFIED DISORDER OF ORBIT

Medications

Name	Dosage	Frequency	Start Date
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
UNSPECIFIED
Augmentin	875-125 mg Tablet	Take 1, 2 times per day	2011-03-12
Provigil	200 mg Tablet	Take 1, as needed

Allergies

Name	Reaction/Severity	Start Date	End Date

Procedures

Name	Date
lesion removed	2005-06-15
combined conn tiss & double Pedicl Graft, tooth 27, 29	2005-11-22
OFFICE CONSULT FOR NEW/ESTAB PT, W/ 3 KEY COMPONENTS 40 MINS.	2007-09-05
FUNDUS PHOTOGRAPHY W/ MEDICAL DIAGNOSTIC EVALUATION	2007-09-05
FLUORESCEIN ANGIOGRAPHY(INCL MULTIFRAME IMAGE) W/MED DIAG EVAL	2007-09-05
FLUORESCEIN ANGIOGRAPHY(INCL MULTIFRAME IMAGE) W/MED DIAG EVAL	2007-09-05
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2007-10-17
LIMITED EXAM,EVALUATION AND/OR TREATMENT, OFFICE OR OPD	2007-10-17
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2007-10-17
LIMITED EXAM,EVALUATION AND/OR TREATMENT, OFFICE OR OPD	2007-10-17
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2007-10-17
LIMITED EXAM,EVALUATION AND/OR TREATMENT, OFFICE OR OPD	2007-10-17
LIMITED EXAM,EVALUATION AND/OR TREATMENT, OFFICE OR OPD	2007-12-19
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2007-12-19
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2007-12-19
MAGNETIC RESONANCE(PROTON)IMAGING, BRAIN;W/O CONTRAST MATERIAL	2009-02-18
MAGNETIC RESONANCE(PROTON)IMAGING, BRAIN;W/O CONTRAST MATERIAL	2009-02-18
MRA,HEAD AND/OR NECK;W/O CONTRAST FOLLOWED BY CONTRAST	2009-02-23
MRA,HEAD AND/OR NECK;W/O CONTRAST FOLLOWED BY CONTRAST	2009-02-23
MRA,HEAD AND/OR NECK;W/O CONTRAST FOLLOWED BY CONTRAST	2009-02-23
CONSULT HIST/EXAM EVAL WITH REP CON DOES INV PAT AS WHOLE	2009-02-25
Procedure 99244	2009-02-25
CLINIC	2009-02-25
CLINIC	2009-02-25
Procedure 99244	2009-02-25
MEDICAL EYE EXAM (PORTION FOR, OTHER THAN TO DETERMINE THE NEE	2009-11-03
MEDICAL EYE EXAM & EVAL;COMPREHENSIVE,ESTBLSHD PAT;1 OR MORE V	2009-11-05
MEDICAL EYE EXAM & EVAL;COMPREHENSIVE,ESTBLSHD PAT;1 OR MORE V	2009-11-05
MEDICAL EYE EXAM & EVAL;COMPREHENSIVE,ESTBLSHD PAT;1 OR MORE V	2009-11-05
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2009-11-05
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2009-11-05
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2009-11-05
RTNE VENIPUNCTURE/FINGER/HEEL/EAR STICK FOR COLLECT SPECIMEN	2009-11-13
CORTISOL,RIA,PLASMA	2009-11-13
CORTISOL;FREE	2009-11-20
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2009-12-17
LIMITED EXAM,EVALUATION AND/OR TREATMENT, OFFICE OR OPD	2009-12-17
CLINIC	2010-01-28
Procedure 99245	2010-01-28
INITIAL CONSULTATION; COMPLEX	2010-01-28
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2010-01-28
MEDICAL EYE EXAM & EVAL ;INTERMEDIATE,ESTABLISHED PATIENT	2010-01-28
CONS REQ LIM EXAM & EVAL OF GIVEN SYS CON DO NOT INV PAT WHOLE	2010-02-02
CONS REQ LIM EXAM & EVAL OF GIVEN SYS CON DO NOT INV PAT WHOLE	2010-02-02
CONS REQ LIM EXAM & EVAL OF GIVEN SYS CON DO NOT INV PAT WHOLE	2010-02-02
POLYSOMNOGRAPHY,4 OR MORE, ATTENDED BY A TECHNOLOGIST	2010-02-24
INITIAL CONSULTATION; COMPLEX	2010-04-19
INITIAL CONSULTATION; COMPLEX	2010-04-19
VISUAL FIELD EXAM W/MEDICAL DIAGNOSTIC EVAL; EXTENDED	2010-04-19
INITIAL CONSULTATION; COMPLEX	2010-04-19
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2010-04-19
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2010-04-19
SCANNING COMP OPHTHLMC DIAG IMAG,POSTERIOR SEGMT,W/INTERP&REPO	2010-04-19
VISUAL FIELD EXAM W/MEDICAL DIAGNOSTIC EVAL; EXTENDED	2010-04-19
VISUAL FIELD EXAM W/MEDICAL DIAGNOSTIC EVAL; EXTENDED	2010-04-19
SURGICAL PATHOLOGY;SINGLE COMPLICATED SPECIMEN	2010-08-06
SURGICAL PATHOLOGY;SINGLE COMPLICATED SPECIMEN	2010-08-06
Procedure 88305	2010-08-06
SEMEN ANALYSIS;(VOLUME,COUNT,MOTILITY,AND DIFF)	2010-08-06

Test Results

Name	Result	Date
Chlamydia Trachomatis Antibody - Serum	negative	1997-09-22
HIV-1 DNA or RNA - Qualitative	negative	1997-09-22
Neisseria Gonorrhoeae DNA or RNA, Qualitative	negative	1997-09-22
Systolic Blood Pressure	126 mmHg	2004-04-18
Diastolic Blood Pressure	74 mmHg	2004-04-18
Heart rate	80 bpm	2004-04-18
Hemoglobin A1c (HbA1c)	5.5 %	2005-04-18
Glucose - Plasma	89 mg/dl	2005-04-18
Cholesterol, Total	164 mg/dL	2005-11-07
Triglycerides, Fasting - Serum	61 mg/dL	2005-11-07
HDL Cholesterol	38 mg/dL	2005-11-07
LDL Cholesterol	114 mg/dL	2005-11-07
Glucose - Plasma	118 mg/dl	2006-09-22
Hemoglobin A1c (HbA1c)	5.6 %	2006-10-30
Glucose - Plasma	92 mg/dl	2006-10-30
T-Lymphocytes, Total - Blood	1898 Cells/mcL	2009-01-14
Triglycerides, Fasting - Serum	92 mg/dL	2009-01-14
Cholesterol, Total	189 mg/dL	2009-01-14
HDL Cholesterol	58 mg/dL	2009-01-14
Potassium, Serum	4.5 mmol/L	2009-01-14
Neutrophils - Blood	4818 Cells/mcL	2009-01-14
BUN	12 mg/dl	2009-01-14
Monocytes - Blood	511 Cells/mcL	2009-01-14
LDL Cholesterol	113 mg/dL	2009-01-14
Eosinophil Count, Blood	73 Cells/mcL	2009-01-14
Creatinine Clearance	.9 mg/dl	2009-01-15
Calcium, Total - Serum	9.7 mg/dl	2009-01-23
Height	74 inches	2009-01-29
Weight	2560 ounces	2009-01-29
Cortisol - Serum	20.7 UG/DL	2009-11-13
Diastolic Blood Pressure	80 mmHg	2011-03-14
Weight	80 kg	2011-03-14
Systolic Blood Pressure	130 mmHg	2011-03-14
White Blood Cell (WBC) Count	7000 /uL	2011-03-24
Glucose - Plasma	97 mg/dl	2011-03-24
Creatinine Clearance	.8 mg/dl	2011-03-24
Serum Glutamic-Oxaloacetic Transaminase (SGOT)	21 U/L	2011-03-24
Carbon Dioxide - Serum	30 mmol/L	2011-03-24
Total Protein	7.5 g/dL	2011-03-24
Calcium, Total - Serum	9.8 mg/dl	2011-03-24
BUN	14 mg/dl	2011-03-24
Bilirubin, Total	.5 mg/dL	2011-03-24
Potassium, Serum	4.2 mmol/L	2011-03-24
Alkaline Phosphatase	75 U/L	2011-03-24
Albumin, Serum	4.6 g/dL	2011-03-24
Red Blood Cell (RBC) Count	5120000 /uL	2011-03-24
Sodium, Blood	139 mmol/L	2011-03-24
Chloride, Serum	102 mmol/L	2011-03-24
Sodium, Blood	138 mmol/L	2011-04-21
Serum Glutamic-Oxaloacetic Transaminase (SGOT)	22 U/L	2011-04-21
Red Blood Cell (RBC) Count	5380000 /uL	2011-04-21
Glucose - Plasma	88 mg/dl	2011-04-21
Creatinine Clearance	0.83 mg/dl	2011-04-21
Total Protein	7.9 g/dL	2011-04-21
Carbon Dioxide - Serum	31 mmol/L	2011-04-21
Calcium, Total - Serum	10.0 mg/dl	2011-04-21
BUN	12 mg/dl	2011-04-21
Weight	77 kg	2011-04-21
Bilirubin, Total	1.2 mg/dL	2011-04-21
Alkaline Phosphatase	70 U/L	2011-04-21
White Blood Cell (WBC) Count	7400 /uL	2011-04-21
Albumin, Serum	5.1 g/dL	2011-04-21

Immunizations

Name	Date
BCG (Tuberculosis) Vaccine	1974-04-13
Diphtheria/Tetanus/Pertussis (DTP) Vaccine	1976-06-19
DTaP/Hepatits B/Poliovirus Vaccine	1977-12-31
Hepatitis B Immune Globulin (HBIG)	2011-03-14
Hepatitis B Vaccine, Adult	2011-03-14
Mantoux	2006-09-26
Measles Vaccine	2004-03-30
Mumps Vaccine	2004-03-30
Rubella Vaccine	2004-04-22
Tetanus/Diphtheria/Pertussis (Tdap) Vaccine	2011-03-14
Tetanus/Diphtheria/Pertussis (Tdap) Vaccine	2004-03-29
Varicella Vaccine	1978-12-31

Updated: 2011-04-21T16:43:42.801Z

Samples

Saliva Collection for Multiple Studies

Sample 99989479 (saliva) received 2011-12-16 01:47:32 UTC by Harvard University. Show log

2012-04-12 21:04:28 UTC	Harvard University / TeloMe, Inc.	A new sample 47180016 was derived from this sample
2011-12-16 01:47:54 UTC	Harvard University	Sample transferred to plate 58212966 (id=10) well A04 (id=4)
2011-12-09 01:38:23 UTC	huAA53E0	Sample returned to researcher
2011-12-08 05:27:22 UTC	huAA53E0	Sample received by participant
2011-12-03 20:27:30 UTC	Harvard University / TeloMe, Inc.	Sample sent
2011-11-30 00:02:36 UTC	Harvard University / TeloMe, Inc.	Sample created

Sample 65339702 (saliva) received 2011-12-16 01:47:35 UTC by Harvard University / TeloMe, Inc.. Show log

2012-04-12 21:04:03 UTC	Harvard University / TeloMe, Inc.	A new sample 07081178 was derived from this sample
2011-12-16 01:47:49 UTC	Harvard University / TeloMe, Inc.	Sample transferred to plate 65016198 (id=9) well A04 (id=4)
2011-12-09 01:38:23 UTC	huAA53E0	Sample returned to researcher
2011-12-08 05:27:22 UTC	huAA53E0	Sample received by participant
2011-12-03 20:27:30 UTC	Harvard University / TeloMe, Inc.	Sample sent
2011-11-30 00:02:36 UTC	Harvard University / TeloMe, Inc.	Sample created

PGP Tissues

Sample 42045510 (skin biopsy) mailed 2012-02-07 22:57:04 UTC by huAA53E0. Show log

2012-02-07 22:57:04 UTC	huAA53E0	Sample returned to researcher
2011-12-08 21:45:39 UTC	huAA53E0	Sample received by participant
2011-12-08 21:45:16 UTC	Harvard University	Sample sent
2011-12-08 21:44:13 UTC	Harvard University	Sample created

Saliva Re-collection for Multiple Studies

Sample 9215482 (saliva) mailed 2012-07-19 14:34:36 UTC by huAA53E0. Show log

2012-07-19 14:34:36 UTC	huAA53E0	Sample returned to researcher
2012-07-19 00:37:12 UTC	huAA53E0	Sample received by participant
2012-04-04 17:16:32 UTC	Harvard University / TeloMe, Inc.	Sample sent
2012-03-06 15:29:47 UTC	Harvard University / TeloMe, Inc.	Sample created

Sample 80888959 (saliva) mailed 2012-07-19 14:34:37 UTC by huAA53E0. Show log

2012-07-19 14:34:37 UTC	huAA53E0	Sample returned to researcher
2012-07-19 00:37:12 UTC	huAA53E0	Sample received by participant
2012-04-04 17:16:32 UTC	Harvard University / TeloMe, Inc.	Sample sent
2012-03-06 15:29:47 UTC	Harvard University / TeloMe, Inc.	Sample created

Sample 34185853 (saliva) mailed 2012-07-19 14:34:36 UTC by huAA53E0. Show log

2012-07-19 14:34:37 UTC	huAA53E0	Sample returned to researcher
2012-07-19 00:37:12 UTC	huAA53E0	Sample received by participant
2012-04-04 17:16:32 UTC	Harvard University / TeloMe, Inc.	Sample sent
2012-03-06 15:29:47 UTC	Harvard University / TeloMe, Inc.	Sample created

Uploaded data

None available.

Geographic Information

State:	Massachusetts
Zip code:	02139

Family Members Enrolled

parent	linked 2010-10-11 06:43:20 UTC
parent	linked 2010-10-11 06:53:18 UTC

Surveys

PGP Participant Survey	Responses submitted 7/16/2011 12:51:32. Show responses
Timestamp	7/16/2011 12:51:32
Year of birth	40-49 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 believe several traits are genetic in nature 1. "Blue rubber bleb nevus syndrom" connected to TEK tyrosine kinase mutation (http://en.wikipedia.org/wiki/Blue_rubber_bleb_nevus_syndrome) 2. Narcolepsy and "Delayed sleep phase syndrome" There are a few more but I believe these two are the easiest to focus on.
Disease/trait: Onset	Congenital / present at birth
Disease/trait: Rarity	Very rare/uncommon
Disease/trait: Severity	Low severity disease
Disease/trait: Relative enrollment	Yes, I have one or more affected relatives and they are already enrolled
Disease/trait: Diagnosis	Yes
Disease/trait: Genetic confirmation	No
Disease/trait: Documentation	Yes
Disease/trait: Documentation description	I have a letter from the oncologist at OCB (Ophthalmic Consultants of Boston) to my PCP describing this condition (BRBNS)
Sex/Gender	No response
Race/ethnicity	No response
Maternal grandmother: Country of origin	Ukraine
Paternal grandmother: Country of origin	Latvia
Paternal grandfather: Country of origin	Belarus
Maternal grandfather: Country of origin	Ukraine
Enrollment of relatives	Yes
Enrollment of older individuals	Yes
Enrollment of parents	Yes
Enrolled relatives [Monozygotic / Identical twins]	0
Enrolled relatives [Parents]	2 or more
Enrolled relatives [Siblings / Fraternal twins]	0
Enrolled relatives [Children]	0
Enrolled relatives [Grandparents]	0
Enrolled relatives [Grandchildren]	0
Enrolled relatives [Aunts/Uncles]	0
Enrolled relatives [Nephews/Nieces]	0
Enrolled relatives [Half-siblings]	0
Enrolled relatives [Cousins or more distant]	0
Enrolled relatives [Not genetically related (e.g. husband/wife)]	1
Are all your enrolled relatives linked to your PGP profile?	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	5
Blood sample	Yes
Saliva sample	Yes
Microbiome samples	Yes
Tissue samples from surgery	Yes
Tissue samples from autopsy	Yes

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:	huAA53E0
Account created:	2009-05-27 02:44:25 UTC
Eligibility screening:	2009-05-27 02:51:20 UTC (passed v1)
Exam:	2009-05-27 03:17:31 UTC (passed v1)
Consent:	2015-08-06 14:02:42 UTC (passed v20150505)
Enrolled:	2010-10-10 16:11:24 UTC