Yippee! DNA analysis for TAM

[georger]

Great news! Dr Johann Bohm, a medical researcher in France has identified a gene responsible for TAM. See igbmc.fr/society/actualite/85/

Dr Bohm is offering free analysis of your DNA for this mutated gene. The analysis is free, but you will need to:
- obtain your biopsy report and forward it to him and
- post a sample for DNA analysis, usually a cheek swab.
This is not a trivial task, but it's not onerous either. I've just done it and my DNA is currently being analysed.

Given that researchers are the people who make the bullets that our doctors fire, this is well worth supporting. Most of us have had a long and frustrating path to diagnosis and this research promises to simplify this. So, apart from the possible therapeutic opportunities for us, think of all those other undiagnosed folk.

Send me a message with your email address, I will pass it on and Dr Bohm should contact you with further information. I'm doing it this way to cut down on spam. (Click on the link "georger" on the left, then "Send Personal Message.")

[Craig Lane]

This could be potentially the breakthrough which could cut a big chunk out the the diagnosis waiting time. Step one, maybe even a guide for the future treatment or control of TA's. The other end of this tiger tail though is what do you do / say if your 3yr old has the marker? Cotton wool them or encourage them to do it all while they can?
My appologies for this unusual serious tone, normal service will be resumed as some as possible.

[georger]

Is it better to know or not to know? That's an age old question. I think in this case it's better to know. If I had known earlier, I'd be in much better shape now. If it was your child then you wouldn't enrol them in a football team and you would know about treatment options.

As to the serious tone, good humour sometimes needs moments of drama and the like as a contrast.

[Craig Lane]

OK Guys and Guyesses, How many of you are in with this DNA work. With a disorder which currently is not suffered from by a major political figure we need all the research we can get. So many of us have had a long journey of discovery months or years of tests usually culminating in a muscle biopsy. This could jump us forward miles, answer questions of heritage (spasmodic 0r genetic). The more information we have the better the results. Maybe a step closer to understanding this debilitating disorder.l

[georger]

There's been little response. But I'm grateful to those who have.

[georger]

I see that the French researchers are advertising for a PhD student for 3 years to continue their research into TAM:
www.nature.com/naturejobs/science/jobs/330690-Funded-PhD-position-at-the-IGBMC-Genetics-and-Physiopathology-of-Tubular-Aggregate-Myopathies
Obviously they intend to keep at it. Note that they will be looking into "pharmacological reversal." But don't get your hopes up yet; these things take many years to reach the patient. Then again, I'm often wrong.
What surprised me was TAM in "in zebrafish and mouse models." It's long been known that other mammals such as mice, dogs and horses can get TAM, but fish?

[Craig Lane]

I would imagine any animal that uses metabolized calcium in muscle signaling would potentially have the same problems. It would therefore be more interesting to find a species which does not suffer.
Glad to see extention to research whoever is doing it. I was only saying to the goldfish this morning buy your own damn painkillers...

[Craig Lane]

Just read though the above posts as my DNA is to be included in the research. Had a good chat with the genetisit a few days ago and she was very interested and planned to contact Dr Bohm. Brand new sample expertly poured into buckets at the dept of phobaloby or someting equally silly. Sure they sneak off enough to do a couple of transfusions as well. Still ball rolling albeit a way down the road. Still time for you all to join the dance. If you are waiting for someone local to start research you may be in for the long haul.

Sure it wasn't me who said all that guff about metalized calcium signals of fish sound far to clever. I must have copied it from somewhere. (It's only plagiarism if they catch you out).

So anyone else getting tested or been tested. Let's hear your story.

[yvonne]

I emailed offering my biopsy report and whatever else they need.

[bjorrn]

Wow! I'm impressed that ANYONE is researching TAM. When I was diagnosed in 1997, the specialist at UCLA told me no one would ever research it unless
their mother was affected by it. Well, now the French come to our rescue. I have sufferer more than I ever thought I could tolerate. TAM is only one
of my chronic health problems. That specialist at UCLA called me a "genetic toilet". I'm going to have to think about contributing my DNA to this research.
It does sound like a worthy cause. Glad to know I'm not alone.

[Craig Lane]

Hi Bjorrn, Welcome to our forum. As unique as each of us maybe we are never alone, especially in this age of technology which allows us the chance to touch across the planet. It's great that you are interested in joining in with Dr Bohms research. With so few subjects to choose from I think it important to support anything that may help if not us but future generations.

Please keep in touch the more folk write on our forum the more active it can be. Each one of us has different complexity to our lives and when one is feeling down others can help support and understand. We all need a helping hand a sometime. As you put it "Glad to know I'm not alone" rings true with all of us.

[bjorrn]

Go to the Neurologist later this week and I will be sharing the article from Jocelyn LaPorte's team at IGBMC. I'm interested if the Neurologist has heard of this. Personally, I feel that I KNOW MORE than he does. If I have any new information, I will be sure to share. Good luck to all of us!!!!!!!!!!

[Craig Lane]

I have looked at Jocelyn LaPortes' work and found this interesting artical

www.myotubulartrust.com/research_news.htm

Although I understand this to be somewhat different to TAM none the less I'm sure this is the way forward.
Also nice to see other support teams at work.

[georger]

Bjorn, I would not be surprised if you know more about TAM than your neurologist. They are supposed to research the medical literature on any disease new to them, but that is not so easy with TAM.

Wow! a cure for myotubular myopathy by the same team who are working on TAM. Craig, that is quite a find. Yes, myotubular myopathy is very different from TAM and seems to be a particularly nasty lethal disease. But it has a genetic basis like TAM and the mutation was discovered years ago. Even more reason to hope for major advances in the treatment of TAM and for all of us to provide the IGBMC team with our DNA.

[georger]

Of course those of us interested in DNA and TAM are looking for some form of gene therapy. Here is a short newspaper article on the current status of gene therapy in general:
www.thesaturdaypaper.com.au/2015/02/21/finetuning-gene-therapy/14244372001504