Public Profile -- hu6D1115
Public profile url: https://my-dev.pgp-hms.org/profile/hu6D1115
Personal Health Records
Demographic Information
| Date of Birth | 1944-06-01 (81 years old) |
|---|---|
| Gender | Female |
| Weight | 119lbs (54kg) |
| Height | 5ft 4in (162cm) |
| Blood Type | A+ |
| Race | White |
Conditions
| Name | Start Date | End Date |
|---|---|---|
| Age Spots | ||
| Airplane ear | ||
| Allergic Drug Reaction | ||
| Anemia, folate-deficiency | ||
| Astigmatism | ||
| Birthmarks | ||
| Bronchitis | 1949-01-01 | 1950-01-01 |
| Bruises | ||
| Canker sores | ||
| Cavities | ||
| Cervical Dysplasia | 1990-01-01 | |
| Chickenpox | 1953-01-01 | |
| Child abuse, physical | 1946-01-01 | 1963-01-01 |
| Cigarette Smoker | 1964-01-01 | 1973-01-01 |
| Cocaine intoxication | 1972-01-01 | 1972-01-01 |
| Common cold | ||
| Cough | ||
| Cyst | 1977-01-01 | 1979-01-01 |
| Dandruff | ||
| Decreased visual acuity | 1989-01-01 | |
| Dental Caries | ||
| Dental cavities | ||
| Diarrhea | ||
| Dizziness | ||
| Dry Skin | ||
| Ear Wax Impaction | 2004-01-01 | |
| Excessive gas | ||
| Eyelid Twitch | ||
| Fingernail Injury | ||
| Flatulence | ||
| Flea Bites | ||
| Folate-deficiency anemia | ||
| Folic acid deficiency | ||
| Fructose Intolerance | ||
| Gingivitis | ||
| Gum Disease | 1997-01-01 | |
| Hay fever | ||
| Hiccups | ||
| High blood triglycerides | ||
| High Cholesterol | ||
| Homocystinuria | ||
| Hypothyroidism | 1990-01-01 | |
| Ice cream headaches | ||
| Impacted wisdom teeth | ||
| Influenza | ||
| Insect Bites | ||
| Insect bites and stings | ||
| Iron Deficiency Anemia | 2009-01-01 | |
| Itching | ||
| Laryngitis | ||
| Leg Cramps | ||
| Marijuana intoxication | 1970-01-01 | 1980-01-01 |
| Menopause | 1989-01-01 | |
| Menstrual Periods, Absent | ||
| Metabolic syndrome | 1990-01-01 | 2003-02-01 |
| Moles | ||
| Motion Sickness | ||
| Neck Stiffness | ||
| Night Terrors | ||
| Nightmares | ||
| Nosebleed | ||
| Ovarian cysts | 1989-01-01 | |
| Painful Urination | ||
| Periodontal Disease | ||
| Pimples | ||
| Pink eye | ||
| Plantar warts | ||
| Poison Oak | ||
| Psoriasis | ||
| Rotator Cuff Injury | ||
| Rotator Cuff Strain | ||
| Rotator Cuff Tendinitis | ||
| Scabies | 2004-02-01 | |
| Shoulder Pain | ||
| Shoulder Strain | ||
| Shoulder Tendinitis | ||
| Skin Photosensitivity | ||
| Skin Rash | 2009-01-01 | |
| Skin tags | ||
| Sore Throat | ||
| Stomach Cramps | ||
| Stomach flu | ||
| Stress Incontinence | ||
| Sunburn | ||
| Teeth Grinding | ||
| Toenail Injury | ||
| Tonsillitis | ||
| Tooth Decay | ||
| Toxic Shock Syndrome | 1985-01-01 | |
| Traveler's Diarrhea | ||
| Underactive Thyroid | ||
| Unintentional weight gain | ||
| Urinary Tract Infection (UTI) | ||
| Vaginal yeast infection | ||
| Viral Pneumonia | 1949-01-01 | 1950-01-01 |
| Vomiting | ||
| Warts, plantar | ||
| Whiteheads | ||
| Wrinkles | ||
| Wrist pain | ||
| Yeast infection, vaginal | ||
| Zits |
Medications
| Name | Dosage | Frequency | Start Date | End Date |
|---|---|---|---|---|
| Alpha-Lipoic Acid | ||||
| Calcium Magnesium Vitamins D & K | ||||
| Calcium-Vitamin D3-Vitamin K | ||||
| Co Q-10 | ||||
| Curcumoids-Tumeric | ||||
| DHEA | ||||
| Ferrochel | ||||
| Fluocinonide-Cream To skin | ||||
| Folgard RX | ||||
| latisse | ||||
| Levothyroxine | ||||
| Pravastatin | ||||
| Pregnenolone | ||||
| Probiotic -Sacchro | ||||
| Resveratin |
Allergies
| Name | Reaction/Severity | Start Date | End Date |
|---|---|---|---|
| Sulfa (Sulfonamides) | Severe |
Procedures
| Name | Date |
|---|---|
| Abdominoplasty | |
| Eyelid Lift | |
| Facelift | |
| Forehead Lift | |
| Liposuction - Head and Neck | |
| Liposuction - Trunk | |
| salpingoophrectomy | |
| Tonsillectomy - With Adenoidectomy |
Test Results
| Name | Result | Date |
|---|---|---|
| Lipoprotein-a (Lp(a)) | 24 mG/dl | 1998-09-15 |
| HDL Cholesterol | 47 mG/dl | 1998-09-15 |
| LDL Cholesterol | 116 mG/dl | 1998-09-15 |
| Homocysteine - Serum | 47.7 umoL/L | 1998-09-15 |
| Cholesterol, Total | 201 mG/dl | 1998-09-15 |
| Triglycerides, Blood | 192 mG/dl | 1998-09-15 |
| Albumin, Serum | 4.6 | 2009-02-28 |
| Weight | 2016 ounces | 2009-09-12 |
| Height | 64 inches | 2009-09-12 |
| C-reactive Protein (CRP) | <0.10 | 2010-02-03 |
| Taurine | 76 umo/L | 2010-06-21 |
| Methylmalonic Acid Test | 139 nmol/L | 2010-06-21 |
| Phosphoethanolamine | 11 umo/L | 2010-06-21 |
| Homocysteine - Serum | 9 umoL/L | 2010-06-21 |
| Creatinine, Serum | 0.8 mg/dL | 2010-07-13 |
| Sodium, Blood | 142 mEq/L | 2010-07-13 |
| Total Protein | 7.2 g/dL | 2010-07-13 |
| Triglycerides, Blood | 113 mG/dl | 2010-07-13 |
| Globulin - Serum | 2.5 g/dL | 2010-07-13 |
| ALT/SGPT | 18 u/L | 2010-07-13 |
| BUN | 12 mg/dL | 2010-07-13 |
| Creatine Phosphokinase (CPK) | 128 u/L | 2010-07-13 |
| Alkaline Phosphatase | 77 IU/L | 2010-07-13 |
| TSH Receptor Antibody | 1.701 ulU/mL | 2010-07-13 |
| AST/SGOT | 20 u/L | 2010-07-13 |
| Glomerular Filtration Rate (GFR), Predicted | >60.0 | 2010-07-13 |
| Potassium, Serum | 3.9 mEq/L | 2010-07-13 |
| Bicarbonate - Serum | 25 mEq/L | 2010-07-13 |
| Very Low Density Lipoprotein (VLDL) Cholesterol | 22.6 | 2010-07-13 |
| Albumin, Serum | 4.7 | 2010-07-13 |
| Cholesterol, Total | 178 mG/dl | 2010-07-13 |
| Bilirubin, Direct | 0.10 mg/dL | 2010-07-13 |
| Chloride, Serum | 103 mEq/L | 2010-07-13 |
| Bilirubin, Indirect | 0.2 mg/dL | 2010-07-13 |
| Calcium, Serum | 10.0 mg/dL | 2010-07-13 |
| Thyroxine (T4), Free - Serum | 1.08 ng/dL | 2010-07-13 |
| HDL Cholesterol | 64 mG/dl | 2010-07-13 |
| Bilirubin, Total | 0.3 mg/dL | 2010-07-13 |
| LDL Cholesterol | 91 mG/dl | 2010-07-13 |
| Glucose, Fasting - Plasma | 74 mg/DL | 2010-09-02 |
| Hemoglobin A1c (HbA1c) | 5.1 % | 2010-09-02 |
| Weight | 123 lb | 2010-10-10 |
| Weight | 122 lb | 2010-10-13 |
| Cholesterol, Total | 156 mG/dl | 2010-11-03 |
| Very Low Density Lipoprotein (VLDL) Cholesterol | 15.2 | 2010-11-03 |
| Bilirubin, Total | 0.4 mg/dL | 2010-11-03 |
| Alkaline Phosphatase | 72 IU/L | 2010-11-03 |
| Bilirubin, Indirect | 0.3 mg/dL | 2010-11-03 |
| Homocysteine - Serum | 14.3 umoL/L | 2010-11-03 |
| ALT/SGPT | 18 u/L | 2010-11-03 |
| Globulin - Serum | 2.2 g/dL | 2010-11-03 |
| Albumin, Serum | 4.4 | 2010-11-03 |
| Bilirubin, Direct | 0.10 mg/dL | 2010-11-03 |
| LDL Cholesterol | 77 mG/dl | 2010-11-03 |
| AST/SGOT | 19 u/L | 2010-11-03 |
| Total Protein | 6.6 g/dL | 2010-11-03 |
| HDL Cholesterol | 64 mG/dl | 2010-11-03 |
| Creatine Phosphokinase (CPK) | 101 u/L | 2010-11-03 |
| Triglycerides, Blood | 76 mG/dl | 2010-11-03 |
| Weight | 122 lb | 2010-11-12 |
| Weight | 123 lb | 2010-11-18 |
| Weight | 122 lb | 2010-12-18 |
| Weight | 121 lb | 2010-12-30 |
| BUN | 12.8 mg/dL | 2011-01-25 |
| Apolipoprotein A | 179 mg/dL | 2011-01-25 |
| Sodium, Blood | 142 mEq/L | 2011-01-25 |
| Apolipoprotein B100 (ApoB100) | 82 mg/dL | 2011-01-25 |
| Triglycerides, Blood | 75 mG/dl | 2011-01-25 |
| LDL Cholesterol | 78 mG/dl | 2011-01-25 |
| Total Protein | 6.8 g/dL | 2011-01-25 |
| Potassium, Serum | 4.9 mEq/L | 2011-01-25 |
| Cholesterol, Total | 176 mG/dl | 2011-01-25 |
| Homocysteine - Serum | 9.5 umoL/L | 2011-01-25 |
| Chloride, Serum | 106 mEq/L | 2011-01-25 |
| Glucose, Fasting - Plasma | 76 mg/DL | 2011-01-25 |
| Carbon Dioxide - Serum | 28 mmol/l | 2011-01-25 |
| Calcium, Serum | 9.9 mg/dL | 2011-01-25 |
| Very Low Density Lipoprotein (VLDL) Cholesterol | 16 | 2011-01-25 |
| C-reactive Protein (CRP) | 0.5 | 2011-01-25 |
| HDL Cholesterol | 66 mG/dl | 2011-01-25 |
| Creatinine, Serum | 0.7 mg/dL | 2011-01-25 |
| Weight | 122 lb | 2011-02-04 |
| LDL Cholesterol | 67 mG/dl | 2011-06-15 |
| Eosinophil Count, Blood | 6 | 2011-06-15 |
| Eos (Absolute) | 0.3 x10E/uL | 2011-06-15 |
| Triglycerides, Blood | 183 mG/dl | 2011-06-15 |
| Hematocrit | 36.3 | 2011-06-15 |
| Hemoglobin - Blood | 11.7 g/dL | 2011-06-15 |
| Creatine Phosphokinase (CPK) | 97 u/L | 2011-06-15 |
| Red Blood Cell (RBC) Count | 4.11 x10E6/uL | 2011-06-15 |
| Homocysteine - Serum | 11.2 umoL/L | 2011-06-15 |
| Cholesterol, Total | 174 mG/dl | 2011-06-15 |
| Very Low Density Lipoprotein (VLDL) Cholesterol | 37 | 2011-06-15 |
| Bilirubin, Total | 0.4 mg/dL | 2011-06-15 |
| Bilirubin, Direct | 0.12 mg/dL | 2011-06-15 |
| RDW | 13.9 | 2011-06-15 |
| Immature Granulocytes | 0 | 2011-06-15 |
| Basophils - Blood | 1 | 2011-06-15 |
| Baso (Absolute) | 0.0 x10E3/uL | 2011-06-15 |
| Total Protein | 6.6 g/dL | 2011-06-15 |
| Monocytes - Blood | 6 | 2011-06-15 |
| wbc | 5.2 x10E3/ul | 2011-06-15 |
| Weight | 124 lb | 2011-06-15 |
| HDL Cholesterol | 70 mG/dl | 2011-06-15 |
| Platelet Count | 323 x10E/uL | 2011-06-15 |
| Neutrophils (Absolute) | 3.0 x10E3/uL | 2011-06-15 |
| ALT/SGPT | 16 u/L | 2011-06-15 |
| Alkaline Phosphatase | 69 IU/L | 2011-06-15 |
| Neutrophils - Blood | 58 | 2011-06-15 |
| Lymphs | 29 | 2011-06-15 |
| Lymphs (Absolute) | 1.5 x10E3/uL | 2011-06-15 |
| Mean Corpuscular Hemoglobin (MCH) | 28.5 pg | 2011-06-15 |
| Mean Corpuscular Hemoglobin Concentration (MCHC) | 32.2 g/dL | 2011-06-15 |
| Mean Corpuscular Volume (MCV) | 88 fL | 2011-06-15 |
| Albumin, Serum | 4.4 | 2011-06-15 |
| Monocytes (Absolute) | .03 x10E3/uL | 2011-06-15 |
| AST/SGOT | 20 u/L | 2011-06-15 |
| Linoleic LA | 9.8 % | 2011-10-10 |
| HDL2 | 16 mg/dL | 2011-10-11 |
| Lp-PLA | 96 ng/mL | 2011-10-11 |
| NT-proBNP | 84 mg/dL | 2011-10-11 |
| Omega-3 Total | 14.4 % | 2011-10-11 |
| Lipoprotein-a (Lp(a)) | 13 mG/dl | 2011-10-11 |
| LDL-P | 1382 nmol/L | 2011-10-11 |
| LDL Cholesterol | 77 mG/dl | 2011-10-11 |
| Insulin, Serum | 6 uU/mL | 2011-10-11 |
| HS-Omega-3 Index (RBC EPA + DHA) | 9.4 % | 2011-10-11 |
| Homocysteine - Serum | 13 umoL/L | 2011-10-11 |
| Saturated Fatty Acids Total | 40.3 % | 2011-10-11 |
| sdLDL | 16 mg/dL | 2011-10-11 |
| Myeloperoxidase Antibody - Serum | 320 pmol/L | 2011-10-11 |
| HDL-P | 34.9 umol/L | 2011-10-11 |
| HDL Cholesterol | 56 mG/dl | 2011-10-11 |
| 25-Hydroxy Vitamin D | 50 ng/mL | 2011-10-11 |
| HbA1c | 5.1 % | 2011-10-11 |
| Total Protein | 6.7 g/dL | 2011-10-11 |
| Galectin-3 | 12.0 ng/mL | 2011-10-11 |
| Free Fatty Acid | 1.44 mmol/L | 2011-10-11 |
| ALA Alpha-Linolenic | 0.2 % | 2011-10-11 |
| Fibrinogen | 307 mg/dL | 2011-10-11 |
| Trans Fatty Acids Total | 0.5 % | 2011-10-11 |
| Triglycerides, Blood | 59 mG/dl | 2011-10-11 |
| Eicosapentaenoic EPA | 2.9 % | 2011-10-11 |
| Eiconsapentaenoic EPA | 2.9 % | 2011-10-11 |
| Arachidonic AA | 12.1 % | 2011-10-11 |
| Docosahexaenoic DHA | 6.5 % | 2011-10-11 |
| CK | 90 U/L | 2011-10-11 |
| Albumin, Serum | 4.5 | 2011-10-11 |
| cis-Monounsaturated Fatty Acids Total | 18.8 % | 2011-10-11 |
| Cholesterol, Total | 143 mG/dl | 2011-10-11 |
| C-Reactive Protein, High Sensitivity (hsCRP) | 0.4 mg/L | 2011-10-11 |
| Bilirubin, Total | 0.5 mg/dL | 2011-10-11 |
| Bilirubin, Direct | 0.2 mg/dL | 2011-10-11 |
| Vitamin B12 Level | 1554 pg/mL | 2011-10-11 |
| AST/SGOT | 20 u/L | 2011-10-11 |
| ALP | 62 U/L | 2011-10-11 |
| ALT/SGPT | 15 u/L | 2011-10-11 |
| APB:APO A-1 Ratio (calculated) | 0.58 | 2011-10-11 |
| Apolipoprotein A | 137 | 2011-10-11 |
| Apolipoprotein B100 (ApoB100) | 79 mg/dL | 2011-10-11 |
| DPA Docosapentaenoic | 4.8 % | 2011-10-11 |
| Thyroxine (T4), Free - Serum | 1.4 ng/dL | 2011-11-01 |
| TSH Receptor Antibody | 0.94 ulU/mL | 2011-11-01 |
| Folate - RBC | 2503 ng/mL | 2011-11-24 |
| Weight | 119.5 lb | 2011-11-24 |
| Weight | 118 lb | 2011-12-10 |
| Weight | 118 lb | 2011-12-10 |
| Weight | 118 lb | 2011-12-13 |
| Weight | 119 lb | 2011-12-22 |
Immunizations
| Name | Date |
|---|---|
| Chickenpox Vaccine | |
| Diphtheria/Tetanus (DT) Toxoids, Pediatric | |
| Flu Shot | |
| Hepatitis A Vaccine, Pediatric/Adolescent, 3 Dose | |
| Measles/Mumps/Rubella (MMR) Vaccine | |
| Poliovirus vaccine, inactivated (IPV) | |
| Poliovirus Vaccine, Live, Oral (OPV) | |
| Shingles Vaccine | |
| Tetanus/Diphteria (Td) Toxoids, Older Children and Adults | |
| Typhoid Vaccine, Unknown Type |
Updated: 2011-12-22T21:35:47.956Z
Samples
| Saliva Collection Pilot Study for 100 participants |
Sample
90146765
(saliva)
received
2011-12-02 20:45:29 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
7916857
(saliva)
received
2011-12-02 20:17:47 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
28619635
(saliva)
mailed
2011-10-22 03:59:12 UTC
by
hu6D1115.
Show log
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| Saliva Collection for Multiple Studies |
Sample
64511820
(saliva)
mailed
2012-02-08 02:13:44 UTC
by
hu6D1115.
Show log
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Sample
31273880
(saliva)
mailed
2012-02-08 02:13:44 UTC
by
hu6D1115.
Show log
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| Saliva Re-collection for Multiple Studies |
Sample
12655519
(saliva)
received
2012-05-23 23:28:44 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
97209829
(saliva)
received
2012-05-23 23:28:50 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
58604656
(saliva)
received
2012-05-23 23:28:49 UTC
by Harvard University / TeloMe, Inc..
Show log
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Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2011-07-16 | 23andMe | Participant | Leslie Hoag Hope 23andme |
Download
(4.95 MB) |
Geographic Information
| State: | California |
| Zip code: | 90402 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 7/16/2011 21:47:13. Show responses |
|---|---|
| Timestamp | 7/16/2011 21:47:13 |
| Year of birth | 60-69 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. | high homocysteine the answer below is when I first became aware of it as a result of my father's heart attack. |
| Disease/trait: Onset | 40-49 years of age |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Not applicable |
| Disease/trait: Relative enrollment | No |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | Yes |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | Last year I was tested by a pediatric geneticist at UCLA who specializes in the condition in newborns. It was determined that I am hetrozygous for the MTHFR C677T variant. Many years prior to that my father's cardiologist reported that he had the highest homocysteine ever seen by a lab in Western Canada and recommended that he tell his offsprings to be tested for the condition. My homocysteine level was found to be quite high though it has subsequently been reduced by treatment. I have entered both my initial and my current homocysteine levels in Google Health. |
| 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? | Yes |
| 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 |
| PGP Participant Survey | Responses submitted 10/16/2011 0:51:42. Show responses |
| Timestamp | 10/16/2011 0:51:42 |
| Year of birth | 60-69 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 high homocysteine although I control it with Folgard 2.2 rx I don't know if this condition is considered *rare* but mine is definitely genetic in origin as my father also had the condition. I suspect that my paternal grandmother and uncle also had it. |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | No |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | Yes |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | I saw a pediatric geneticist at UCLA (Ronald Reagan Medical Center) who had me tested for a couple of gene variants and other factors. I have the test results as well as his narrative. However, I do believe there are also other gene variants relative to this condition that I haven't been tested for, such as MTHFD1L. I'm very curious about my risk for Alzheimer's as it relates to homocystememia. I am homozygous for APOE 3 and no one in my family has developed dementia BUT on my father's side where the homocystemia comes from, they tended to die of cardiovascular disease/stroke before late onset dementia could present. |
| 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? | Yes, I have uploaded 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? | 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 |
| PGP Participant Survey | Responses submitted 11/24/2011 3:10:23. Show responses |
| Timestamp | 11/24/2011 3:10:23 |
| Year of birth | 60-69 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. | It is not that rare, but potentially severe. I'm hetrozygous for MTHFR C677T. When I was diagnosed in 1998, my homocysteine level was 48. That is pretty high for a CT. There have to be multiple factors at work to drive my homocysteine level so high. It isn't my diet as I'm a healthy eater. What could they be? Recently I came across a study that sheds some light on my question. I found out that in combination with MTFHR 677>CT, I am a homozygous CC for SLC19A1 rs819130 which supposedly causes a 10% increase of homocysteine levels in carriers on top of whatever effect the MTHFR>CT has. rs819130 is a folate transporter, but in CCs, not efficient. As far as I can tell, no one quite has a handle on high homocysteine yet. I follow the research avidly hoping to find out as much as I can about my condition, so I can figure out how to moderate my epigenome to counteract the effects. I've seen what it did to my father, my uncle and my grandmother. I'm aware of what it did to my great-grandmother. None of them lived long enough to be affected by late onset Alzheimer's but high homocysteine is a risk factor. Alzheimer's is definitely a fate I wish to avoid. So far I think my best bet is strenuous daily exercise and reducing my calorie and sugar intake. I also have risk factors for diabetes, so I've been trying to eat like a diabetic as best I can. All the people in my family who share the high homocysteine trait are now deceased, so they won't be enrolling in PGP. My brother has a rare neurological disease. MSA (symptoms similar to ALS). He is enrolled in a trial through UCLA, but he's getting worse, and they think he's probably getting the placebo. His wife is planning to take hin to China for a stem cell transplant. However, I doubt that his issue is related to mine. I wouldn't dare ask him to enroll in PGP at this point. |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Fairly common |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | No |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | Yes |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | I have genetic tests from Berkeley Heart Lab and Health Diagnostic Laboratory that confirm MTFHR 677>CT. I have a subscription to 23and me that allows me to browse raw date, so I'm able to correlate my condition to the latest genetic research on high homocysteine. I was first tipped off to my condition after my father had a heart attack in Canada. His cardiologist told him he had the highest level of homocysteine that had ever been tested in the lab that covers all of Western Canada and that his condition was genetic and all his children should be test for it. None of my sisters have it. I'm not sure about my brother, but I don't think he does either. Classic one out of four. |
| 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? | Yes, I have uploaded 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? | 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: No
Can recognize musical intervals: Not sure
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu6D1115 |
| Account created: | 2009-05-21 22:19:27 UTC |
| Eligibility screening: | 2009-05-21 22:26:22 UTC (passed v1) |
| Exam: | 2009-05-21 23:53:08 UTC (passed v1) |
| Consent: | 2015-08-06 14:05:10 UTC (passed v20150505) |
| Enrolled: | 2010-10-10 16:22:46 UTC |