Genetic Testing?


#1

Hi all my Consultant has decided that I should get genetic testing done for Parkin Mutation.

Has any one had this done?And has anyone had a Parkin Mutation diagnosis?

Is is it basically Parkinson's Disease but they can put a reason to why it has happened? As I understand Idiopathic Parkinsons is unknown cause.

Trev


#2

 

No Trev, but I was diagnosed with idiopathic Parkinsons because they didn't know what was causing it, it was not hereditary.

Sheila


#3

Aye aye trev

my mothers half sister has a son who has Parkinson's but dr said that it's not connected in any way to me getting it PD but I don't believe him  , I think it is on my granny's side they don't know as much about PD as they think as there appears to be so many different complaints with this dam illness we know so many people on here and we all have variations of complaints as to how we suffer it , and they don't know how to cure it so remember they know ....... all 

Ian 


#4

Hi Everybody,

Hope you are all not too bad today. I got a research update from the Michael J Fox Foundation today about positive progress in targeting the LRRK2 gene. Obviously I don't really understand the technical details of the role genes play in Parkinsons, but I wondered if anyone out there had had their genes tested for Parkinsons and if so what was the significance of the results. Do Neurologists ever arrange genetic tests? If it's up to the individual then where does one go? How much does it cost? Is it a good idea? Any relevant information would be most welcome.

Thanks,

Dave,

 


#5

I don't have PD. My father has. But I did a genetic test with 23andMe. I carry the GBA mutation for PD. If you have PD you should do this to for 2 reasons. The first, your PD might be the result of a gene that isn't known yet to cause PD. But if enough people with that same gene get PD, then science can pinpoint this gene with data mining techniques and study in more detail why this gene is causing PD. This will lead to specificic medicins for that gene in the future. Second, maybe you carry a gene known to cause PD (or increase likelihood to get PD). For some of them quite advanced studies are being done. In case of my mutation, it is the most common gene causing PD and therefore there are already many meds in phase 2 being tested for this specific mutation. There is even a foundation focusing entirely in finding a solution for people with this kind of mutation.

https://silversteinfoundation.org/


#6

Hi Dave,

We’ve done a post on our blog about the genetics of Parkinson’s with Professor Huw Morris that I think you may find very informative, considering your queries. He also talks about ongoing research where people can join in the effort to better understand the genetics of Parkinson’s. This would be free and more likely to help progress Parkinson’s research in the area (23andme is a global company and not focused solely on Parkinson’s, and results from Parkinson’s researchers are more likely to be published and shared).

You can find this information here if you want to have a read. 

I hope you find this useful.

Many thanks,

Reah