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Ataxia UK
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100,000 Genome Project

Has anyone received results from the 100,000 Genome Project?

I've been on the project for two years in March.

My sample on the tracker seemed to be with the local team but has now gone back to the analysis stage. Has anyone else experienced this?

Thanks in advance

39 Replies
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Hi Grapes12

This is the first time I have heard about this project. Can you write more about it? Maybe I can check into it wuth my MD.

Thank so much in advance

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Am pretty sure the programme has closed now, it was in the press around 3 or 4 yrars ago, big news etc etc. Look it up on the net to check genomicsengland.co.uk/about...

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Thanks Shield. Yes I am pretty sure that the programme has closed now. But the link above will tell you all about it.

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Thanks and I hope you get an answer soon

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Thank you. Fingers crossed.

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Thanks shield :)

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Ask to see a geneticist, I wish I had now.

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If you are interested in contributing to genomics research projects, you might want to look into Nebula Genomics. They do not offer sequencing outside the US presently, but plan to by 'Q2 2019'.

Here's a video on what they are trying to do:

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There's been a delay/problem according to my neuro. We had our bloods taken over 3 years ago and still waiting to get results. Apparently they should be coming off 'during 2019' whether we get them this year is another question.

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Oh no I hope you get results soon. It's taking such a long time.

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I gave my samples in June 2018 and haven’t heard back yet.

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Hopefully you will hear something soon.

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Hi, I got my results after waiting two years, but my parents never got theirs, they told me theirs was not tested. We thought all ours would be checked, but not the case. Hope you get yours soon.

Suzie

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Hi Suzie,

Glad you have got your results. Did you get an answer from the project (hope you don't mind me asking)? Seems strange your parents didn't get any results; think the extra findings are being fed back at a later date. Thank you

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I thought they would look at my parents bloods first to see if they had any faults that would explain my problems, does not make sense to us. They only found a variant in my genes that is not the cause of my problems, although i think it could be a little, but it does not match all my symptoms.

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I think we were all told different things when we joined. I thought they were looking at everything not just certain panels.

Oh no that's such a shame and so frustrating. I don't have a diagnosis (just symptoms) so am hoping that it will give us some answers. Can your medical team look into the variant further?

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I was hoping they would look into it further, but not saying they will. I think they are just checking every year now but that could take years. I would like to see my own geneticist but I am refused now because I joined the study. Does not seem fair.

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That really doesn't seem fair. I really hope for your sake they look into it further. I'm currently under no one as was discharged from the hospital that put me on the project and told they would see me again if something comes up positive from the project and then if not i'm on my own!

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That is not fair either, the hospital putting you out. Our DNA seems more important to them, it’s not right

Suzie

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Very true. No I feel like i've been dumped and yet the deterioration is still happening. I had to fight to get a cardiology and respiratory appointment. Thankfully my GP is supportive.

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I am the same have to fight for all care, what is wrong with the NHS.

It is good your doctor is helping you.

Suzie

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I joined in 2015- still not heard!!!

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Hope you hear soon!!

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Re the Genome Project. A link was found with a Recessive gene, so my parents wouldn’t need to be tested because they would both need to be ‘Carriers’ in order for me to have it. But, being a ‘Carrier’ means just that, they weren’t affected themselves 🙂xB

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Hi wobblybee. Did you get an answer from the genome project?

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I checked my paperwork, apologies, the link was found because I participated in part of the NIHR BioResource. I donated DNA, for research purposes. This was several years ago, blood was taken, DNA extracted and the genetic makeup was analysed. I wasn’t given any paperwork as a result, the info I have was just passed on verbally by my Neurologist. 😏 xB

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I am a 'carrier" and therefore should not have Friedrich's Ataxia. But guess what???? I have all the symptoms, but less severe. The Genetics Dept at Kaiser in Sacramento CA, USA, say impossible for me to have the disease without the correct number of recessive genes (like blue eyes), and yet here I am. My neurologist, also at Kaiser different facility, says YES, can, and must be, possible. This is a late onset cerebellar ataxia (LOCA). Keep researching on your own. These scientists and doctors don't know everything! And, definitely you should never have to wait so long for results from a blood test. I had to wait 2 months and it seemed like forever.

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Oh wow. I'm so pleased you have a supportive neurologist. Blood test results always seem to take ages to come back.

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The waters are muddied because new genes, and new mutations are regularly being identified. It’s taken me more years than I care to recall just to get this far. But, I am making progress of sorts 😉 xB

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Wobblybee I am so pleased you are making progress x

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You may have another gene (or genes) involved (epistatic interaction), or there may have been some environmental exposure which lead you to become symptomatic. It's good you have a good neurologist.

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Yes, I believe I became symptomatic for a reason, like some trauma. Its all very mysterious and disheartening. I was so graceful, active and co-ordinated and now ...,not. I am still flexible, limber and strong, though, so for that I am grateful.

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My mum (who has Ataxia) & myself were tested nearly 4 years ago and we’ve heard absolutely nothing! Well done to those who have, my mum mentions it most weeks bless her

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I would ring and ask for the results I did and got mine quicker, 4 years is a long long time.

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Hi, yes it certainly is a long long time! We’ve phoned several times, consultants chased it, the GP surgery’s now trying to sort it now ... 🙄!

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That's a very long time. I hope they manage to chase it successfully and you get some results very soon.

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The nurse that enrolled me said it takes a very long time for results. She explained that blood was taken from someone 5 years ago & they're still waiting! That was last year just as the project was wrapping up. Not quick but maybe you can chase?

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Oh my word that's even longer.

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My doc said it take's ages to get any results.

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