Author Topic: 23 and Me and Parkinson's Research  (Read 4440 times)

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Online Friendly Angel

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23 and Me and Parkinson's Research
« on: August 10, 2015, 09:07:52 PM »
Just got this notification :

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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.
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Offline Soldier of FORTRAN

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Re: 23 and Me and Parkinson's Research
« Reply #1 on: August 10, 2015, 11:38:43 PM »
Very cool!  I've never gotten a special notification.
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #2 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.

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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.
« Last Edit: August 12, 2015, 02:20:45 PM by Friendly Angel »
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Offline HighPockets

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Re: 23 and Me and Parkinson's Research
« Reply #3 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.
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #4 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.

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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.
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Offline HighPockets

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Re: 23 and Me and Parkinson's Research
« Reply #5 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.
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #6 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.

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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #7 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:

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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.
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #8 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



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.
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #9 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.

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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.
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Offline HighPockets

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Re: 23 and Me and Parkinson's Research
« Reply #10 on: October 08, 2015, 07:13:07 PM »
are you going to get to meet Michael J. Fox?
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #11 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.

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Online CarbShark

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Re: 23 and Me and Parkinson's Research
« Reply #12 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.



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.

 
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #13 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.

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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.

« Last Edit: October 23, 2015, 02:49:18 PM by Friendly Angel »
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Online Friendly Angel

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Re: 23 and Me and Parkinson's Research
« Reply #14 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.

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