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PGP Participant Survey
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Responses submitted 10/22/2017 15:40:56.
Show responses
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| Timestamp |
10/22/2017 15:40:56 |
| Year of birth |
1966 |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
AMPD1 deficiency (snp rs17602729(T;T)
Telomerase challenge? Interesting because of pulmonary "issues", asbestiosis, COPD at relatively young ages in our family, maternal especially. Have interesting snp in TERT: rs2736100(T;T)
Apparently at very increased risk for macular degeneration (multiple snps) and my paternal grandmother was severely affected. rs10490924(T;T)
rs4151667(A;T)
rs5888(C;T)
Have had lots of inflammatory arthritic and degenerative challenges, including Hashimoto's hyper/hypo-thyroidism, elevated ANA (resolving now) and nerve damage in lumbar spine from herniated disc material that would have normally been resolved/resorbed but, my neurosurgeon informed me that my body had calcified the material which then rebroke and damaged the nerve. Several doctors have told me that small cysts had calcified and that this was not typical. I don't know if this is something that may have significance but I suspect it does. Particularly if these calcifications could also occur more frequently than average in inflammatory areas of cardiovascular and brain ++
Thank you! |
| 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 |
| Anatomical sex at birth |
Female |
| Maternal grandmother: Race/ethnicity |
White |
| Maternal grandfather: Race/ethnicity |
White |
| Paternal grandmother: Race/ethnicity |
White |
| Paternal grandfather: Race/ethnicity |
White |
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PGP Participant Survey
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Responses submitted 11/29/2017 15:41:21.
Show responses
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| Timestamp |
11/29/2017 15:41:21 |
| Year of birth |
1966 |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
AMPD1 deficiency; TERT variant which is linked to impaired telomere repair, pulmonary fibrosis and accelerated aging. Lots of autoimmune variants, CFH, FGFR4 and more. Lots of inflammatory and autoimmune conditions plus pulmonary issues in our family. Likely heart arrhythmia with lots of A-fib and ventricular dysrhythmia -- even at young ages, at least on my paternal side and for myself. Lots of fainting spells with any intraabdominal pressure or pain --- since teenage years -- hard to figure out -- elevated adenosine due to AMPD1 issue? Brugada genes partially affecting? |
| 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 |
| Month of birth |
March |
| Anatomical sex at birth |
Female |
| Maternal grandmother: Race/ethnicity |
White |
| Maternal grandfather: Race/ethnicity |
White |
| Paternal grandmother: Race/ethnicity |
White |
| Paternal grandfather: Race/ethnicity |
White |
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PGP Trait & Disease Survey 2012: Cancers
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Responses submitted 11/29/2017 15:43:38.
Show responses
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| Timestamp |
11/29/2017 15:43:38 |
| Have you ever been diagnosed with one of the following conditions? |
Non-melanoma skin cancer, Uterine fibroids |
| Other condition not listed here? |
severe endometriosis at young age along with large fibroid which apparently started in teen years, per doctors. |
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PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity
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Responses submitted 11/29/2017 15:46:22.
Show responses
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| Timestamp |
11/29/2017 15:46:22 |
| Have you ever been diagnosed with any of the following conditions? |
Thyroid nodule(s), Graves' disease, Hypothyroidism, Hashimoto's thyroiditis |
| Other condition not listed here? |
poor iron absorption, anemia, severe during pre-menopause, required years of IV iron supplementation until uterus removed. Father also was never able to donate blood due to anemia of no known cause. Paternal grandfather also had pernicious anemia. |
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PGP Trait & Disease Survey 2012: Blood
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Responses submitted 11/29/2017 15:46:56.
Show responses
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| Timestamp |
11/29/2017 15:46:56 |
| Have you ever been diagnosed with any of the following conditions? |
Iron deficiency anemia |
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PGP Trait & Disease Survey 2012: Nervous System
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Responses submitted 11/29/2017 15:48:40.
Show responses
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| Timestamp |
11/29/2017 15:48:40 |
| Have you ever been diagnosed with one of the following conditions? |
Carpal tunnel syndrome |
| Other condition not listed here? |
possible MS developing in low back area where disc herniation and arthritis caused myelin sheath damage to the spinal nerve root at L5-S1 |
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PGP Trait & Disease Survey 2012: Vision and hearing
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Responses submitted 11/29/2017 15:49:29.
Show responses
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| Timestamp |
11/29/2017 15:49:29 |
| Have you ever been diagnosed with one of the following conditions? |
Myopia (Nearsightedness), Astigmatism |
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PGP Trait & Disease Survey 2012: Circulatory System
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Responses submitted 11/29/2017 15:50:25.
Show responses
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| Timestamp |
11/29/2017 15:50:25 |
| Have you ever been diagnosed with one of the following conditions? |
Hypertension, Angina, Cardiac arrhythmia |
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PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies
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Responses submitted 11/29/2017 15:51:28.
Show responses
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| Timestamp |
11/29/2017 15:51:28 |
| Have you ever been diagnosed with any of the following conditions? |
Spina bifida |
| Other condition not listed here? |
spinal bifida was not noted as covered by skin. But found during youth on a scoliosis xray, lumbar spine. |
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PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue
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Responses submitted 11/29/2017 15:52:23.
Show responses
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| Timestamp |
11/29/2017 15:52:23 |
| Have you ever been diagnosed with any of the following conditions? |
Rheumatoid arthritis, Osteoarthritis, Chondromalacia patella (CMP), Spinal stenosis, Sciatica, Frozen shoulder, Bone spurs, Fibromyalgia, Scoliosis |
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PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue
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Responses submitted 11/29/2017 15:55:44.
Show responses
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| Timestamp |
11/29/2017 15:55:44 |
| Have you ever been diagnosed with any of the following conditions? |
Acne |
| Other condition not listed here? |
chronic problem with hair follicles getting plugged with sebum/keratin? Decreasing as I age. But my son also has this, as does my mother. Also, I my sister and I have both been told by dermatologists that we tend to "overcalcify" or deposit excess calcium in areas of infection or inflammation. Somewhat higher than average sensitivities to laundry soap or bath soap, causing itching, without rash. |
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PGP Trait & Disease Survey 2012: Genitourinary Systems
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Responses submitted 11/29/2017 15:56:29.
Show responses
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| Timestamp |
11/29/2017 15:56:29 |
| Have you ever been diagnosed with any of the following conditions? |
Urinary tract infection (UTI), Fibrocystic breast disease, Endometriosis, Female infertility |
