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02-25-2014, 03:42 PM | #1 | ||
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02-25-2014, 05:51 PM | #2 | ||
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I spoke with the research team today. They are specifically looking for the following individuals: 1. People with PD who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry. 2. People without PD who are related to someone with PD AND who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry Individuals who meet either of these criteria may be eligible to receive genetic counseling and testing at no cost to determine if they may qualify to participate in PPMI. To get started: If you've never been genetically tested, go to this link and sign up: https://www.michaeljfox.org/get-invo...vey-screen.php If you have been tested and are positive for the LRRK2 mutation, go here: http://ppmi.iu.edu/ Please participate if you qualify. PPMI is a one of the most important ongoing PD studies and the more information collected, the more knowledge we will all have. Thanks, Gary |
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"Thanks for this!" says: |
02-26-2014, 01:29 AM | #3 | ||
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Thank you for all of this information - so helpful!
Do you (or anyone) know if there is a way to see if you have any LRRK2 mutations from the 23andme raw data? There are so many LRRK2 genes that come up - do I just go through each one looking for a "positive"? I also saw your post about Firefox and the SNP's ~ of course I just realized I never downloaded Firefox onto my new laptop. I will do that tomorrow! Thank you! Quote:
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02-26-2014, 09:10 AM | #4 | ||
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"Thanks for this!" says: | anagirl (02-26-2014), Stand Tall (02-26-2014) |
02-26-2014, 07:49 PM | #5 | ||
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Thank you so much Tupleo - i really appreciate your help!
I just haven't sat down to spend enough time learning how to read my info on 23andme. So i just reviewed the page which show my Parkinson's data - I do not have the LRRK2 mutation, I'm GG. But I do have some issues (red marks) with the other genes - SNCA, MAPT, PARK16, BST1. It's all very interesting! I have an appointment with my neurologist next month, so I will discuss it with him. Thanks again for all of your help! |
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02-26-2014, 09:33 PM | #6 | ||
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The commonly measured SNP for the SNCA mutation is rs356219 . The risk allele is G. The SNCA gene is part of the PARK family of genes associated with PD. At least 18 different mutations in SNCA have been found. The SNCA mutation has be positively linked to early-onset PD (YOPD). By the way, the new PPMI genetic study is also recruiting people (both with and without PD) who have tested positively for the SNCA mutation. As it is rarer than LRRK2, they are only looking for 50 subjects. Gary |
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"Thanks for this!" says: | anagirl (02-26-2014) |
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