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General Discussions => Health, Fitness, Nutrition, and Medicine => Topic started by: Friendly Angel on August 10, 2015, 09:07:52 PM

Title: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 10, 2015, 09:07:52 PM
Just got this notification :

Quote
Your 23andMe genetic report indicates that you carry a mutation in your GBA gene, which is quite rare. Because this is one of the specific genetic mutations being studied in PPMI, we are writing to let you know you are one of a few individuals qualified to help accelerate Parkinson's research through PPMI.

GBA mutations only occur in a small percentage of the population. While most people who carry the mutation never go on to develop the disease, individuals with this genetic profile are of great interest to researchers seeking better treatments for patients.

At first I was skeptical that they were really trying to make me feel special so I'd donate money... but it appears to be legit.  I have a rare GBA mutation...  :rock: and they want me to spit in another tube to cure PD.  Anything for science.
Title: Re: 23 and Me and Parkinson's Research
Post by: Soldier of FORTRAN on August 10, 2015, 11:38:43 PM
Very cool!  I've never gotten a special notification.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 12, 2015, 02:16:28 PM
Just got called by a researcher in Indiana - she wants access to my full technical report, then have an interview with me, and then maybe go see the local folks at UCSF - maybe spit into another test tube.

She agreed to accept my LinkedIn invitation too... cool!

I'm happy to be a research subject... but if there's any swag involved, I want some.

Quote
Thank you for your interest in the Parkinson’s Progression Markers Initiative (PPMI).  As you know we are looking for people who carry, or are at risk to carry, a LRRK2 or GBA mutation.  You have indicated that you have been tested and we would like to review your test results.  You can attach your report as a reply to this post or you can fax it to me, whatever is most convenient for you.  Or, you could provide me with a convenient time for me to call you to discuss further.
Title: Re: 23 and Me and Parkinson's Research
Post by: HighPockets on August 14, 2015, 11:40:44 AM
So how does that work. iirc you had a post about 23 and me a long time ago. so even after you got your preliminary results they are still evaluating your DNA and finding new things?

BTW congratulation on your new found mutation, x-man.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 14, 2015, 12:07:08 PM
So how does that work. iirc you had a post about 23 and me a long time ago. so even after you got your preliminary results they are still evaluating your DNA and finding new things?

BTW congratulation on your new found mutation, x-man.

No, the detailed 23andMe testing included a lot of stuff that most folks don't really care about, but was available if you wanted to look at it.  So my genetic profile already had a report that said I had the particular GBA mutation.  If you have an account it's in the "browse raw data" tab.

Quote
This is an advanced view of all the uninterpreted raw genotype data, including data that is not used in 23andMe reports. This data has undergone a general quality review however only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe's Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical or other use.

The Parkinson's Progressive Marker Initiative (PPMI) asked 23 and Me to send out e-mails to everyone who had the mutations they are looking for, and said if we want to help out with the study then we go to a PPMI website and sign up.  Then after I signed up I got a call from the researcher and then I e-mailed my detailed report to her.
Title: Re: 23 and Me and Parkinson's Research
Post by: HighPockets on August 14, 2015, 01:30:20 PM
That is really cool. I haven't done it, but I had thought about giving the testing as a gift to my adopted daughter. she's always been interested in her "other" heritage. Then when they got into the whole medical results kerfuffle it kind of fell off my radar. I may have to circle around and revisit this again. Maybe get me done too.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 14, 2015, 02:06:40 PM
That is really cool. I haven't done it, but I had thought about giving the testing as a gift to my adopted daughter. she's always been interested in her "other" heritage. Then when they got into the whole medical results kerfuffle it kind of fell off my radar. I may have to circle around and revisit this again. Maybe get me done too.

My wife and I did it about the time the Neanderthal genome thing was in the news - I was fascinated by that.  Wife figured some of the folks on her side of the family may have some secrets, and I was adopted by my stepfather so there was some mystery there as well (no idea what happened to bio-dad or if he had any genetic diseases or other health issues). 

It was fun, it MIGHT have turned out really interesting... but the evidence showed we were both pretty boring genetically.  An adopted daughter might really enjoy it as long as she's comfortable with whatever it might reveal... that'd be an important discussion to have first.

Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 24, 2015, 06:58:42 PM
Recently spoke with a "genetic counselor" associated with the program about all this.  She seemed to be concerned that I might not be able to put the probabilities in the proper perspective.  Apparently I have about a 7% chance of getting PD by age 80... which is a lot more than the gen pop, but nothing I'm going to worry about especially since I'm already 56.

This is my category:

Quote
Alterations in certain genes, including GBA and UCHL1, do not cause Parkinson disease but appear to modify the risk of developing the condition in some families. Variations in other genes that have not been identified probably also contribute to Parkinson disease risk.

I figure if I'm going to get it I'm going to get it - participating in the study isn't going to change that (although conceivably I might find out earlier than I would otherwise).  I'd rather know than not know.    I'm glad it's not something a lot worse - I suppose people would have a lot harder problem emotionally with other diseases and higher probabilities.

I'm getting thank you e-mails from all kinds of people involved in the research - it's almost embarrassing because I really haven't done anything except agree to some interviews and maybe an exam at some point in the future.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on August 28, 2015, 03:44:48 PM
This week I got a scratch and sniff test in the mail... I guess losing your sense of smell might be an early indicator of PD.

http://blog.al.com/spotnews/2013/07/scratch-and-sniff_test_for_par.html

(http://media.al.com/spotnews/photo/13045030-large.jpg)

I've had a bad cold though, so I'm waiting for my head to clear up before I take it.

Also poking around on the website:  http://www.ppmi-info.org/  I see that one of the things they might want from me is a ....

SPINAL TAP   -OK, that's a little more flesh than I was expecting to offer but it would make for an interesting experience and a good story.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on October 08, 2015, 05:13:40 PM
I've been selected for a cohort study.  Get to spend a day in The City and meet some research doctors for the interview, then go back once in a while to get examined or something.  Having trouble remembering all the biology lingo though... lysosomes and ceramides and such just aren't grokkable.

Quote
NEW YORK — The Parkinson’s Progression Markers Initiative (PPMI), a large-scale biomarker study sponsored by The Michael J. Fox Foundation for Parkinson’s Research (MJFF), is expanding to study individuals with a mutation of the GBA (glucosidase beta acid) gene. Participants will include people with or at increased risk to develop Parkinson’s disease.  Researchers hope that a greater understanding of the biology and clinical features of these participants will lead to therapies benefiting all Parkinson’s patients and ultimately provide strategies to prevent disease onset.
Title: Re: 23 and Me and Parkinson's Research
Post by: HighPockets on October 08, 2015, 07:13:07 PM
are you going to get to meet Michael J. Fox?
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on October 09, 2015, 08:46:06 PM
are you going to get to meet Michael J. Fox?

He sent me a thank you message.

https://youtu.be/qwkltPuK0PQ
Title: Re: 23 and Me and Parkinson's Research
Post by: CarbShark on October 09, 2015, 09:13:59 PM
are you going to get to meet Michael J. Fox?

He sent me a thank you message.

https://youtu.be/qwkltPuK0PQ

Thank you from me, too.  :)

My step father suffered from Parkinsons for the last 30 years of his life. It was probably caused by exposure to radiation and/or chemicals during the war. It went from bad to worse for him, slowly but steadily progressing until he couldn't take care of himself at all.

I wouldn't wish that on anyone.

 
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on October 23, 2015, 02:46:23 PM
Yesterday I met with the research coordinator in San Francisco and signed all the consent docs, and made my appointment for the all-day screening exam in December.  If I'm acceptable, I'll be going every 6 months for 5 years.

Quote
You will need to have the following “screening” exams and tests at UCSF Medical Center to find out if you can be in the main part of the study:
 Physical and neurological exam: You will have a physical and neurological examination (including blood pressure, pulse and temperature), similar to those done for regular medical care.
 Blood tests: You will be asked to give a blood sample for laboratory tests, including DNA testing. Approximately 1 tablespoon of blood will be drawn by inserting a needle into a vein in your arm.
 A brain scan (SPECT imaging scan) that measures the amount of cells in your brain that produce dopamine. Dopamine is a chemical in your brain that helps cells communicate with each other. Within 7 to 10 days after you have completed the dopamine transporter SPECT scan, we will call you to ask how you are doing. A central reading facility at The Institute for Neurodegenerative Disorders and Molecular NeuroImaging will tell us if your scan makes you eligible to participate.
We will also gather information about:
 Your and your family’s medical history
 Any medications you are currently taking
 Your ability to perform daily activities and your movement
 Your thinking and memory


I told her I was honored to be doing this - I'm a blood donor (who knows where that stuff goes), I'm an organ donor (won't help until I'm dead), and I'm in the bone marrow registry (never been called but that would be cool).  Why would I say no to this?

Also, I used the BikeShare thing for the first time, it was kind of fun, but next time I think I'll just take the Muni.

(https://lh3.googleusercontent.com/-haR321nUAaU/Vipp-i_WLWI/AAAAAAAAW_o/vseSc_i-CG4/s912-Ic42/BABS%2525204.jpg)
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on October 29, 2015, 07:52:55 PM
First neurologist visit will be in December.  SPECT scan of my brain after I drink some radioactive koolaid.

Then some blood and urine and a lot of questions and:  a neurological exam - I googled this, it's a little creepy.

Lumbar punctures will be annually starting in January.  My neurologist is too young for Spinal Tap jokes.

Title: Re: 23 and Me and Parkinson's Research
Post by: superdave on October 30, 2015, 10:28:47 AM
My neurologist is too young for Spinal Tap jokes.

this is the most distressing part of your story so far.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on January 19, 2016, 09:05:33 PM
Tomorrow I go in for my DaTscan - sort of a Parkinson's baseline brain evaluation.  There will be a lot of waiting around while the RADIOACTIVE IODINE SOAKS INTO MY BRAIN before I actually get scanned.

http://radiology.ucsf.edu/blog/neuroradiology/new-test-can-help-diagnose-parkinson%25e2%2580%2599s

Title: Re: 23 and Me and Parkinson's Research
Post by: superdave on January 20, 2016, 08:00:46 AM
anytime i get some sort of scan, I secretly hope something like this shows up in the image

(https://tse3.mm.bing.net/th?id=OIP.M7e20f5167f3bc47ce54c4dff38bb9526o0&pid=15.1)
Title: Re: 23 and Me and Parkinson's Research
Post by: brilligtove on January 20, 2016, 08:53:10 AM
Very cool what you are doing.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on February 29, 2016, 06:27:34 PM
Going in Wednesday for Visit #1 (previous two visits were for consent, and baseline).

Visit #1 includes a spinal tap and an MRI.
They said I shouldn't exercise for 48 hours after... no more than walking.
Apparently the trick with a spinal tap is to hold REALLY STILL while they poke you.
I expect I'll have a story or two to relate afterwards.

There are a few neurological tests they're going to be giving me... do you think it would be cheating if I looked them up and practiced first?

Example:  http://youtu.be/w4xm7umutDY
Title: Re: 23 and Me and Parkinson's Research
Post by: SQ the ΣΛ/IGMд on March 01, 2016, 06:54:57 AM
The only thing I can add to this discussion is that my neurologist prescribed a medication for me called Pramipexole to help with restless legs syndrome.
I have it bad. I kick and twitch all night. When I take this medication I sleep without problems.
I asked my doc what it's for and he said it's actually PD medication which stimulates dopamine receptors that weaken due to neurological disorders.
It has worked wonders for me and I definitely know when I forget to take it.
Hopefully it helps PD patients as much as it has helped me.

Good luck Friendly Angel - I hope all works out for you and the others you might help in volunteering for this research.
 :hfive:
Title: Re: 23 and Me and Parkinson's Research
Post by: Andrew Clunn on March 01, 2016, 08:15:23 AM
This is super cool.  I had no idea that the consumer level genetic testing was used for anything like this.
Title: Re: 23 and Me and Parkinson's Research
Post by: stonesean on March 01, 2016, 09:29:32 AM
As a guy who dodged the Huntington's Disease bullet and is eternally greatful/hopeful to anyone helping kick neurological disorders in the balls, cheers to you, man!
Title: Re: 23 and Me and Parkinson's Research
Post by: Skulker on March 01, 2016, 09:49:32 AM
 :cheers: :science:
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 01, 2016, 12:51:03 PM
OK I looked up one of the tests - six different lists of 12 words, don't know which one they'll give me.

I'm going to try to memorize them all... .  I'm not trying to screw up the research, I just can't resist the challenge.
Title: Re: 23 and Me and Parkinson's Research
Post by: HanEyeAm on March 02, 2016, 09:09:39 PM
Thanks you for volunteering for research. Folks volunteering for studies is the only way we will learn more about Parkinson as well as all matters of the human condition.

If you do look at those word lists, you will screw up the research. Please don't do it.

Did they name the tests on the consent form?

Honestly, them sending you a smell test by mail and giving you the names of the tests on the consent form suggests research integrity issues.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 03, 2016, 12:37:09 AM
Thanks you for volunteering for research. Folks volunteering for studies is the only way we will learn more about Parkinson as well as all matters of the human condition.

If you do look at those word lists, you will screw up the research. Please don't do it.

Did they name the tests on the consent form?

Honestly, them sending you a smell test by mail and giving you the names of the tests on the consent form suggests research integrity issues.

Too late - yes I memorized 6 lists of 12 words.  Nailed that part of the exam, but they weren't impressed.

They sent me the smell test about 6 months ago - I think it was before I had even consented to the study, maybe part of the potential cohort screening or something.  Today they said they don't do that any more, and they gave me a more advanced version of the same test in the exam room.

ETA - yes, the smell test was part of the pre-selection process to decide which group I would be assigned to (genetic cohort, unaffected with PD):  
Quote
Also of note, the smell test and self-report questionnaire that we mailed you are being phased out of the study so your study group assignment will not be made based on this assessment. 

During the consent visit they gave me a spreadsheet that shows which tests or procedures I'll have for each of my 12 semi-annual visits - so I just Googled them and this list memorizing thing kind of appealed to me as a hack.  I figure if I really did have a cognitive impairment I wouldn't be able to do that anyway - and what they're really looking for is deterioration over time, so I'll have to memorize them again next time or else I'll look like I'm losing it.  There were several other cognitive tests that would've shown any issues as well... for instance given a string of 3 to 6 letters and digits, sort them in your head and repeat them back numbers first smallest to largest, and then letters in alphabetical order.  Some of the tests have a specific name like "Montreal Cognitive Assessment", and some of them are more general like "semantic fluency".  My mom was a clinical psychologist, I remember her discussing a lot of these tests and how brain impairment makes people not be able to do them.

There are also physical tests looking for fine motor skills, balance, coordination and things, and blood work.

The MRI was much less traumatic (noisy) than the last one I had.

And the spinal tap wasn't awful either... a couple moments during the procedure were painful enough to make me wince , but overall, just not that bad.  Can't exercise for 48 hours though.

Next visit in 6 months.
Title: Re: 23 and Me and Parkinson's Research
Post by: HanEyeAm on March 03, 2016, 06:49:14 AM
Thanks for your detailed reply. Your guess about the use of the memory test data is likely partially correct, but they will use the data in other ways that you are not aware of. Unless the sample size is very, very large, making your data an outlier, training for the test will not only throw off the science but could have negative consequences for Parkinsons patients in the future in ways you can't guess (for example, if they use data to create norms which patients will be compared against).

I'm not sure about this particular study, but often investigators have to put considerable resources into recruiting very few subjects that fit a particular genotyoe or phenotype. And I'm guessing that the have compensated you hansomly fir your time.

If you care about the science, please contact the research coordinator and tell them that you prepped for the cogitive tests. Sorry if that seems judgmental, but tens of thousands of dollars are often spent per patient in these projects, and the impact of one patient's bad data can have very negative effects on the science.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 03, 2016, 12:12:21 PM
Of course I care about the research - that's why I'm doing this.  HanEyeAn - you sound like you understand study protocols and research integrity, and I appreciate and value your advice.  I'm not going to report myself now, but maybe I will at the conclusion of the study.  If they get suspicious though, I'd be completely open.

The study is looking for biomarkers and progression markers for Parkinson's.  The stated goal is for 1300 participants in 5 different subject groups, so far they have about 900 (200 registrants out of 600 goal in my group).  I get my travel expenses reimbursed - just public transit fees for me, but some participants get airfare and hotel depending on where they live and where the closest associated facility is located.  On the ODD numbered visits (lumbar puncture and MRI), I get a $200 gift card, and on the EVEN numbered visits (mostly interviews and cognitive) I get a $50 gift card. 

The Hopkins test has been given to hundreds of thousands of people for all kinds of reasons, the norms are already well-known.  I am confident my datapoint won't change that at all.  I do all kinds of fun memory games just for entertainment and to enhance memory skills - I probably am an outlier.

The physical tests include things like tapping your foot - I "practice" that all the time.  I also practice standing on one foot sometimes, just for fun... maybe that makes me better at the balance test they give me in the exam.  Also they have some physical tests that look for Parkinson's type tremors - there'd be no way to disguise that of course.

I find the whole process interesting - it's usually clear what each test is trying to reveal about the subject, and the methodology they use is usually quite clever.  One of the tests was sort of a cipher with symbols assigned to numbers and then you have to "de-code" a string of symbols using the key - I could see why someone with spatial orientation problems would have trouble with that - especially because the same symbols mean a different number depending on the rotation. 

The "schedule of activities" includes 50 items - some to be completed on every visit, some at 6-month intervals, and some at 12-month intervals.
Title: Re: 23 and Me and Parkinson's Research
Post by: stonesean on March 03, 2016, 01:37:08 PM
Of course I care about the research - that's why I'm doing this.  HanEyeAn - you sound like you understand study protocols and research integrity, and I appreciate and value your advice.  I'm not going to report myself now, but maybe I will at the conclusion of the study.  If they get suspicious though, I'd be completely open.

The study is looking for biomarkers and progression markers for Parkinson's.  The stated goal is for 1300 participants in 5 different subject groups, so far they have about 900 (200 registrants out of 600 goal in my group).  I get my travel expenses reimbursed - just public transit fees for me, but some participants get airfare and hotel depending on where they live and where the closest associated facility is located.  On the ODD numbered visits (lumbar puncture and MRI), I get a $200 gift card, and on the EVEN numbered visits (mostly interviews and cognitive) I get a $50 gift card. 

The Hopkins test has been given to hundreds of thousands of people for all kinds of reasons, the norms are already well-known.  I am confident my datapoint won't change that at all.  I do all kinds of fun memory games just for entertainment and to enhance memory skills - I probably am an outlier.

The physical tests include things like tapping your foot - I "practice" that all the time.  I also practice standing on one foot sometimes, just for fun... maybe that makes me better at the balance test they give me in the exam.  Also they have some physical tests that look for Parkinson's type tremors - there'd be no way to disguise that of course.

I find the whole process interesting - it's usually clear what each test is trying to reveal about the subject, and the methodology they use is usually quite clever.  One of the tests was sort of a cipher with symbols assigned to numbers and then you have to "de-code" a string of symbols using the key - I could see why someone with spatial orientation problems would have trouble with that - especially because the same symbols mean a different number depending on the rotation. 

The "schedule of activities" includes 50 items - some to be completed on every visit, some at 6-month intervals, and some at 12-month intervals.

My very favorite side effect about doing something similar was that I got to meet and become friends with two brilliant neurologists.

Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 08, 2017, 11:50:29 PM
Today I had my Visit #04 and second spinal tap. 

I think they modified the lists I memorized so that not all 12 words were there... that kind of messed me up - I'll have to practice some more.

The first lumbar puncture I had last year went pretty smoothly.  This one was more complicated - the neurologist kind of brushed a nerve or something with the needle and I got what felt like an electric shock going down my leg and fainted.  She said we could quit but I told her to try again and the second attempt was successful at extracting 18mL of cerebral spinal fluid.  She was impressed with my commitment and pain tolerance.

Neurology exam didn't find any symptoms of PD, but did reveal I have some dead reflexes in one foot.

It's embarrassing how much they thank me for going through this.

Bonus:  PPMI coffee cup and a frame-able certificate of appreciation.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 10, 2017, 04:10:09 PM
Update:

I just signed up for the brain and tissue donation program associated with the study; so when I die, they will remove my brain. 

They made a big deal out of how I could still have an open-casket funeral if wanted and nobody would notice ... that made me chuckle.

I asked how they find out I'm dead and they said my next of kin has to tell them... I'm not sure DW will be prepared to make that phone call.

Not sure why they want skin too... but they can have it.
Title: Re: 23 and Me and Parkinson's Research
Post by: Galactus on March 11, 2017, 12:55:48 PM
   

   My wife and I just sent our spit in a few weeks ago. How long did it take you to get your DNA reports?
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 11, 2017, 01:19:38 PM
   

   My wife and I just sent our spit in a few weeks ago. How long did it take you to get your DNA reports?

I think it was about a month... that was over 10 years ago though so 1) I don't really remember and 2) it's probably different now.  It looks like they offer an ancestry only test, and an ancestry plus health test.  Website says 6-8 weeks.  Back when I did it there was only one test and it was on sale for $99 and it had all the health data from before whatever it was that got them in a little trouble about that.

What was your motivation?
Title: Re: 23 and Me and Parkinson's Research
Post by: Galactus on March 11, 2017, 09:10:10 PM
 


  We are more interested in my wife's family history. Her father claims some native american ancestors, so we shall see.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on April 28, 2017, 04:56:02 PM
And now, 23andMe is cleared to advertise health risk reports.

Quote
Recently, the U.S. Food and Drug Administration (FDA) authorized 23andMe to market genetic health risk reports to customers in the U.S. Our genetic health risk reports can help you learn about genetic variants that may increase your risk of developing certain health conditions.

Since they had already done all that on me before they got in trouble, I just got my report.  The specific conditions are rated by the confidence level in the test, and my risk vs the gen pop's risk. 

Title: Re: 23 and Me and Parkinson's Research
Post by: superdave on April 28, 2017, 05:15:23 PM
thanks for sharing.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on April 28, 2017, 05:55:32 PM
I hope not to infringe too much on your request not to discuss the results, just a quick comment.
Everyone has to die of something, and there's no shortage of things that will do it.  So even the healthiest person out there will have elevated risks for some things and lowered risks for others.

Of course.

I think the conversation should be about how people can use these results realistically.  In my case, nothing really points to something I'd see my doctor about.  One of the other gene mutations PPMI is studying has a 50% risk of PD by age 80... I'm not sure what I'd do about that but it would certainly affect my attitude.  Some of these conditions might have preemptive things you could do if you had a high probability - others not.  I think most doctors wouldn't even want to consider a report like this in most cases. 
Title: Re: 23 and Me and Parkinson's Research
Post by: daniel1948 on April 28, 2017, 07:27:25 PM
I did the 23andme thing a few years ago. I browsed the risk factors, but most were of the form "there's a 40% chance that your gene gives you a 6% chance of thus-and-such. My risk of Alzheimers is slightly elevated above the average. My risk of something else is slightly less than the average. And so on and so forth. They correctly predicted that I do not like cilantro. Apparently there's a single gene for that.

But I did the test because I was curious about my ethnic background. My grandfather insisted that in spite of a thousand years of the diaspora in Eastern Europe, we were 100% Jewish. That seemed unlikely to me, given that the Jews of the Middle east are much darker-skinned than we are. Turns out I am 94% Ashkenazi. I'm 3% Neanderthal (twice the average). And a couple of percent mixed European. According to Wikipedia, the Ashkenazi line was probably formed from a relatively small population of Middle Eastern men who went to what is now Italy and took European wives, and after that there was very little mixing with the locals. So my grandfather was right that we are nearly 100% Ashkenazi, but I was right also because Ashkenazi has a large European component, and wrong because apparently, for the next thousand years, there was not much mixing.

I'm not sure what good it would do me to know that I have a 6% greater chance of getting this, and a 4% lowered chance of getting that.

Occasionally I get emails from 23andme asking me to take an on-line survey, which I do. Then a bot thanks me for helping research. I think I might balk at getting a spinal tap. That just sounds really scary. I have a very low pain tolerance.
Title: Re: 23 and Me and Parkinson's Research
Post by: Soldier of FORTRAN on April 28, 2017, 07:46:06 PM
It's been a while since I looked at 23andMe.  Turns out, I have one Neanderthal gene variant actually associated with a trait, and that trait is reduced back hair. 

Nice! 
Title: Re: 23 and Me and Parkinson's Research
Post by: Galactus on April 29, 2017, 11:58:40 AM


  Finally got our results. My wife has no Native American ancestry but I do(0.3%). I also have about 15% Irish/British ancestry that no one in my family ever mentioned. And some Yakut(0.1%).
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on July 27, 2017, 06:58:54 PM
Study Visit #5 next month.  Not a spinal tap visit, just blood and urine samples, questionnaires, and movement disorder testing.

New though, is that I have agreed to let them take extra blood for stem cell research in an unrelated study.


Quote
Induced pluripotent stem cells (iPSCs), which greatly circumvent the ethical issue of human embryonic stem cells (ESCs), can be induced to differentiate to dopaminergic (DA) neurons, and hence be used as a human disease model for Parkinson's disease (PD). iPSCs can be also utilised to probe the mechanism, and serve as an ‘in vivo’ platform for drug screening and for cell-replacement therapies. While iPSCs hold great promise for PD, there are still numerous scientific and clinical challenges that need to be surmounted before any clinical application can be safely introduced.

Also - in the 23andME topic, they have identified a "second cousin" member who appears to be related to my biological father (who abandoned his family when I was very young - no contact with him or his relatives since).  I'm not looking for connections... not sure if I would respond to a request to share info.  It might be nice to know if the sperm donor has/had Parkinson's.
Title: Re: 23 and Me and Parkinson's Research
Post by: 2397 on July 27, 2017, 08:14:32 PM
Finally got our results. My wife has no Native American ancestry but I do(0.3%). I also have about 15% Irish/British ancestry that no one in my family ever mentioned. And some Yakut(0.1%).

So does 0.3% mean that approximately 1-2 out of your 512 great great great great great great great grandparents were Native American?
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on September 07, 2017, 02:16:43 PM
Visit #5 is in the books.

No memory testing or puzzles.  Just blood and questions and physical/neuro exam.  Doctor watched me walk, tap my foot, pat my knee, recite the months of the year backwards, repeat back a complicated sentence, etc.

Although I have a little shake in my hands she says it's not a PD tremor.  I think I only have this in her office, my hands are usually steady.  She has an accelerometer app on her phone so I held the phone and it produced a vibration chart.

And my blood pressure is always higher in the exam room than at home.

She lingered a little bit when I told her about some infrequent episodes of double vision.  She didn't think it was neurological but she had to assign some kind of score to what I was describing and was unsure what score would be appropriate.

In the waiting room I watched quite a few real neurology patients come through with all sorts of symptoms...sad and creepy.

Title: Re: 23 and Me and Parkinson's Research
Post by: Shibboleth on September 07, 2017, 03:04:40 PM
This is really cool.
Title: Re: 23 and Me and Parkinson's Research
Post by: The Latinist on September 07, 2017, 03:18:44 PM
Thanks for keeping us updated.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on September 07, 2017, 03:48:59 PM
(https://i.imgur.com/9u3IY7B.png)

Looks like they're still searching for participants.  I'm in the "genetic cohort" group; the "genetic registry" group is people with the same condition but they get a simplified version of the exams, mostly phone calls.

Turned in my expense report today - $39 - breakfast, lunch, and public transportation.  Some of the cohorts come from out of state and get airfare, hotels, and rental cars, so I'm pretty cheap data.

The researchers do update conference calls that they invite participants to listen in on, and they also make professional presentation materials available to look at; it's a nice way to thank us for being involved.

(https://i.imgur.com/0b8g9Uo.png)





Title: Re: 23 and Me and Parkinson's Research
Post by: The Latinist on September 07, 2017, 04:54:18 PM
I’ve often thought of doing 23andme.  I was on the point of doing it before their spat with the FDA.  It looks like they’re now able to give some health-related genetic results. Has anyone down 23andme since the changes?

I am perhaps unreasonably concerned about the future uses of such data once its available, though.
Title: Re: 23 and Me and Parkinson's Research
Post by: HighPockets on September 07, 2017, 05:46:30 PM
I gave Zaros a kit for x-mas this year (last year...whatever) and got one for me for half price. the health info is really really basic, IIRC FA got approached individually  because of a genetic marker they found. but i don't know if that would have been in an initial report that me as an end user would have figured out. To be honest I looked at the original reports, said yeah, 98% European, good chance i'm not lactose intolerant, and then kind of stopped looking though the data.

The privacy concerns did cross my mind as well. but after actually seeing the checks and balances in place i'm pretty comfortable with it.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on September 07, 2017, 06:13:16 PM
I’ve often thought of doing 23andme.  I was on the point of doing it before their spat with the FDA.  It looks like they’re now able to give some health-related genetic results. Has anyone down 23andme since the changes?

Check out this page for a description of what's included in the health reports - it includes genetic health risks and carrier status, but far fewer specific disease risks than I got from my pre-FDA spat report:

https://www.23andme.com/dna-health-ancestry/

Title: Re: 23 and Me and Parkinson's Research
Post by: The Latinist on September 07, 2017, 11:06:31 PM
I understand that one can still get that information by combining the raw data with lists of known genes using open-source software, but it requires a lot more work.

The other thing that makes me hesitate is the expectation that whole-genome sequencing will become much more readily available over the next 5-10 years.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 22, 2018, 12:27:41 PM
UPDATE:

Had Session 6 yesterday, my two-year anniversary as a participant. (2.5 years since first contact)
Same cognitive testing as before:

  - I still had the lists of words memorized, but now they read them back again and leave off a few which sounds very much like they are controlling against people who memorized the lists... much harder to remember which ones aren't included.

  -  Another test that's really testy is giving a list of letters and numbers and then you have to memorize them and sort them in your head and recite them back in numeric and alphabetical order; increasing lengths of string up to seven characters.  It's a little frustrating because they won't tell you how you scored.  I think I could get better at this one with some practice.

Neurological exam went the same way - lots of tapping and pointing, doing two things at once, balance, gait, resisting pushes.

Doctor says I have no symptoms of PD, but my reflexes are not very good - she did a lot of hitting various body parts with her little hammer.  Also a little foot neuropathy which isn't new... some tingling and loss of sensation.  She wiggled my big toe and I couldn't tell if she was pointing it up or down.

Spinal tap went really well - best of the three I've had - I'll get six total for the program.  No after-effects like headache or soreness they said might happen.

Another $200 remuneration, and an autographed book by Michael J Fox.

I have to go back next week for the brain scan because of scheduling.

Title: Re: 23 and Me and Parkinson's Research
Post by: daniel1948 on March 22, 2018, 07:53:36 PM
... my blood pressure is always higher in the exam room than at home.

Are you using the same method at home as they use at the doctor's office? I had one of those automatic ones that strap to your wrist, and the numbers were way off. So I got one that goes on your upper arm, and that one also was significantly off, but irregularly so. I finally got a manual aneroid sphygmomanometer, and that one gives me the same reading the nurse gets.

  -  Another test that's really testy is giving a list of letters and numbers and then you have to memorize them and sort them in your head and recite them back in numeric and alphabetical order

I'm terrible at that sort of test. I'm the world's worst scrabble player, because even though i have a very good vocabulary for speaking and writing, I cannot see words in jumbled-up letters for the life of me.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 22, 2018, 08:49:18 PM
... my blood pressure is always higher in the exam room than at home.

Are you using the same method at home as they use at the doctor's office? I had one of those automatic ones that strap to your wrist, and the numbers were way off. So I got one that goes on your upper arm, and that one also was significantly off, but irregularly so. I finally got a manual aneroid sphygmomanometer, and that one gives me the same reading the nurse gets.


Yeah, I have an automatic elbow sleeve...I'm just more relaxed at home.  They took my blood pressure sitting and then right after standing up and it went down when I stood up.  I'm not worried about it - it's not that high, but I'm rather proud of my cardiovascular conditioning and it'd be nice if the doctors would acknowledge it.

For the brain scan, I get an injection of radioactive juice first.  They're looking for dopamine irregularities.  I've only had that test once before... it's relaxing if you're not claustrophobic (DaTScan / SPECT imaging).  The brain MRI I had a few years ago for dizziness was awful - sounded like fireworks inside my head for an hour.

(http://www.parkinson.org/sites/default/files/February%202011%20-%20image%201.jpg)

Neurologist said I had a good spine for lumbar punctures - I told her my objective was to be her easiest and most charming patient.

Title of his book is revealed to be a joke about short people... with double entendre for optimism.
(https://lh3.googleusercontent.com/Dtdl8Lg_dDojkr8fvPLJJZLXF8Mk_ik3-a-zOI4rBUC75X87R5Dl0x_oaorlz4n3p1MogRng-3c1KegacM_XOocfstnumxLEDyRvUbTEhdyPmawtVudOASZL7qRjpO2SK2_FW5wR4mt1TchYH17GDFwCzwp0PU7pu_HzjPcqnTLek6EXTya5B_L80B_GyAJWgh3fsxZLgqnXlMf5PNuyPOYW6qUGIHNqpOhHq2h6BkdXN38x5r11MM5O9uNX3DUtZpxQrvp6CCwRaZk_ZjIBaXprmzS8jRnr3-DeWXeABJsmCuAj3o9MU-QIZiRSwPXY6CUW66WKqgoYECCoZNm1lm9F0UfYDZG5fc2tN0QyxjK1hW6PCiyqUQqZ4Q_usLsbkQKUiv31tvnZV-0TKqR7T8fSVW-XhHmtRULM1xv4ahes-1jUugk8498CwaWLrDhJPMw3Y1BB6bQXe2CzvJRrg5XFqm_rttSWgQ0rlhgneqqj6KvYQnJK25amSa3Usdx9rBEaJm7bqhG1ZBD_yizM2l0FuljaPyglB7unCPBKDYQk4V0MxrF_AEyOg8zAtObfk7Ja3zbOiu7NMmwGNOSiXroiE7GFkmnG2w=w615-h1054-no)

(https://lh3.googleusercontent.com/4gvXe5UncaGm997xokR20dQTfyK6gOkIKbGMecH4-J0dsVRlrZTJNRdfl1V5tRID2cyjiUZMb57_m_88CSBjTk7HS0aB-xQPq5_f1WwNFZoJnylHdbLB6spVcRwOPgnumuYjNk_rLdEsuZs_QURhe8ECYl2vXfOBF-fibmSFUoZgxhAsQqfaKXysciGfj555UyKa4P42NfaaFQmwZ8mROGu4MgliveLHHSd1hx_XaSyCGMPpg_FpOFTr4H57KUCAlM0jaJ0OZA6bd7ATA8nAENaKypEQujaWp3YAtwmpVnrYQKhLaC1s662ODq2NWAlv1IEuhGM3rEpPPg96NjSlmomRvwcajWonJAuAgNIT2w_GJtCRL9Dp07NHf1dOS5Rkr_5N0dXJC3tU0rlHyoMbTUY7Z93fH-R9wAzjlqcwr8fhB1Q6iO-yAClYFpXHN0L85NYEEf1pRZpLAKE73_vjkQeUE5rLKAGz-mVzZoszU2S5aemc85YjgJJ7F0txtbbqygXEPj20PegMBGZ0EPOSTFr6OWRCrXCNm_ZU3mSobWG7tklO-RoaNz8z5MxdVuN6FbKKS1zlPBS7PMaywGRYDnJYvyG9eZBEGw=w600-h744-no)

(https://lh3.googleusercontent.com/c4EnypY82bOtV5wGRd76hsUS2m6dkz3jm1I4G9L38aW_m4NeQSfn1jlHtckOGFBky9kOZnMpf6N2qLhrs7d9eGQjud6-qCWLFQ6XvvwY3idsbowxj_nyz77LXOPhFXucOA5XBgjPztFNaQkQWRWEHV51Bx-l7PqXETl3ppxc61rR0S2rX8F0MBe-KU-tr3hk0qo4YV8CdG_Em8YMZco5R0KsizCti3V4vKVRQldqjq1fKCA-yolb0Yi8wHKxqMS3GOdMqHotv4ArxOZphwy_7KaH6S1e_xVgMgjk_Zk8m6Vb18DGkZzcOUb3n_DuIQa2ZdXyreRuqNyyKGYGCyg1Pt1BfLJFR-f59DewoIA9Ra3WgFDj9TlXICfjOVi73b3RuZ_8YqUjBj4prF5K9kU2wIUQWTrQdirrfaKbSRlQKwame_jMgQPmd4slUnJFHbTrgiL5LTTsY1MiAVmeC-5jaVdm5k6HAIwkgjRSGzVbn7Bl5-i8GlfMzEPdSg612NGcQhPU83rRHsHQCTalVcAT3VrfU1xdwfw3c7ZFy5jJap21zFWyl_xGz3IDUZzRSia_JtnVFrHweWIlee14_ngRtnVx5dKQlhh5bA=w458-h1054-no)
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on September 14, 2018, 02:18:30 PM
My Month-30 visit is next week... interviews and testing, no spinal tap.  This will mark the half-way point of the 60-month program.

Since my last visit though I've lost 25 pounds, they'll probably notice that.

Also I started a new job and my closest colleague has had PD for 10 years; he knows my researcher-neurologist although she's not hs regular doctor.

Should be plenty to talk about.
Title: Re: 23 and Me and Parkinson's Research
Post by: The Latinist on February 02, 2019, 01:32:56 AM
I understand that one can still get that information by combining the raw data with lists of known genes using open-source software, but it requires a lot more work.

The other thing that makes me hesitate is the expectation that whole-genome sequencing will become much more readily available over the next 5-10 years.

I've been continuing to watch the web for the status of whole-genome sequencing prices.  It's now possible to get 30X whole-genome sequencing with MtDNA for about $300.  One lab I was looking at recently offers 130X whole-exome (coding regions) and 30X whole-genome and MtDNA for $999.  You can get a VCF showing all variants present in 20,000 genes, and you can get your entire DNA sequence on HDD for a small additional fee (200-250 GB of data).
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 05, 2019, 03:46:11 PM
My Month-36 visit is tomorrow.  I'll be getting the full battery of tests with the spinal tap (#4 of 6).  It'll be raining so I won't get to enjoy that beautiful San Francisco weather and campus grounds.

The newsletter said they had now completely populated the 1400 participant spots they were hoping for.

Quote
The Parkinson’s Progression Markers Initiative (PPMI) has reached an important milestone: the study completed enrollment. We have now met the ambitious goal we set back in 2010 of enrolling 1,400 participants, including 600 with rare genetic mutations.

One of the advantages of PPMI is that the depth and breadth of the data it contains can lead to unexpected findings. A group of researchers using several datasets, including PPMI, found that removal of the appendix was associated with lower risk of developing Parkinson’s disease as well as a delayed age of onset. The findings were published in Science Translational Medicine. MJFF’s Vice President of Medical Communications Dr. Rachel Dolhun says of the study: “It’s a piece to the puzzle. It suggests protein misfolding might happen in peripheral organs to be an initiating factor in [Parkinson’s] disease, and that the appendix might be an organ that could contribute.”



And I saw a news story that Michael J Fox is not doing well; had spinal surgery and a long recovery.  He said he's losing hope that he'll be around long enough to benefit from any new science.

Title: Re: 23 and Me and Parkinson's Research
Post by: CarbShark on March 05, 2019, 04:13:06 PM
 :(
Title: Re: 23 and Me and Parkinson's Research
Post by: bachfiend on March 05, 2019, 05:02:37 PM
... my blood pressure is always higher in the exam room than at home.

Are you using the same method at home as they use at the doctor's office? I had one of those automatic ones that strap to your wrist, and the numbers were way off. So I got one that goes on your upper arm, and that one also was significantly off, but irregularly so. I finally got a manual aneroid sphygmomanometer, and that one gives me the same reading the nurse gets.

  -  Another test that's really testy is giving a list of letters and numbers and then you have to memorize them and sort them in your head and recite them back in numeric and alphabetical order

I'm terrible at that sort of test. I'm the world's worst scrabble player, because even though i have a very good vocabulary for speaking and writing, I cannot see words in jumbled-up letters for the life of me.

So, yu’roe ubnlae to raed tihs stnnecee,  whtiuot it mkanig ssnee?
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 07, 2019, 11:59:28 PM
My own personal "brain in a vat" experiment.


(https://i.imgur.com/MCh3QWU.jpg)

"Removal Specialist"  .... that would make a good short story.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on March 08, 2019, 12:47:57 PM
In addition to offering my brain, post mortem, I volunteered to participate in a "wearable" study.  They'll give me a watch like this, but I won't have access to the data - I won't even know what data they're collecting... that's kind of weird and it'll interfere with my Fitbit, but OK.

(https://lh3.googleusercontent.com/bDiieT7hnVelPxA8aIwf_-ujPP8XiwwiWmAM6miEjSAzQCa8Usrfr1Ahexqwdfvn4bVKksyBLOnucLBAdtSO241CUqYq1BmJdwV57FQ=w900)

https://mhealthintelligence.com/news/fox-foundation-to-use-mhealth-wearables-in-parkinsons-research
Title: Re: 23 and Me and Parkinson's Research
Post by: The Latinist on March 08, 2019, 05:55:42 PM
This is all very interesting, but I’m not sure I’d participate if I didn’t have access to the data gathered.
Title: Re: 23 and Me and Parkinson's Research
Post by: Friendly Angel on September 13, 2019, 05:17:06 PM
Visit #9 was yesterday; my 42nd month of involvement.  No spinal tap, no quizzes, just blood draw and a simple neuro exam.

I told the doctor and assistant that I was "ridiculously healthy". 
Assistant took my BP as 117/70 and said "Wow, wish I could get mine that low."
BP actually went DOWN when she took it again after standing up.
Usually my BP goes up when I see a doctor, maybe I'm getting good at biofeedback.

I agreed to wear the watch thing.  It tracks motion with an accelerometer, skin temperature, humidity; no GPS.  Things that might be a trigger or an indicator of a potential seizure or tremor... which I don't have.  The watch looks exactly like the picture except with a rubberized wrist band.  I wear it on my right so I can still wear my fitbit on my left.  They said it would provide useful data even if I never have any kind of episode.

Not related, but the assistant is from England and of Pakistani ethnicity - we talked about Blinded By The Light https://www.imdb.com/title/tt8266310/ (https://www.imdb.com/title/tt8266310/).  I said I hadn't seen it but heard an interview with the real guy and I thought it was a fun story but "How could it be that Bruce Springsteen sings the lifesongs of a Pakistani teenager from England?"  and then I realized "When I was a teenage farm boy in Iowa, a flamboyant queen from England was singing my lifesongs."  Sir Elton John is performing TONIGHT within sight of the exam room I was in at the time.