Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"The site is essential for a source for the general public, whenever one encounters the diagnosis of Kennedy's Disease and has no idea what that might be."

2016 Chat Room Transcripts

Topic: Kennedy's Disease Research Update
Guest: Ed Meyertholen, Ph.D.
MikeG   morning Jack
MikeG   did you have a problem getting into the chat room this morning?
chuckk3   Good Morning
MikeG   hi Chuck
chuckk3   Hello from Red Deer, AB Canada
MikeG   wow, I bet you have some cold weather up there!
carofer   hello from california
MikeG   I was in Yokota AB, Japan for a couple of years in the early 70s.
chuckk3   Plus 6 C today actually a great winter for us here so far
MikeG   hi carofer 
chuckk3   What part of California Carofer?
MikeG   I have a balmy 14 C in Florida
chuckk3   Humid Mike? 
MikeG   probably about 80,,,
MikeG   cloudy too
carofer   I live in aptos, 5 miles south of santa cruz
chuckk3   Nice, first time in 3 years that i didn't travel to So Cal Carofer
carofer   java no longer runs in chrome and soon other browsers will remove support. is there another chat app we can use?
chuckk3   I am on explorer
MikeG   are you guys going to the KDA conference in San Diego this year?
carofer   chuckk3, i hope it was not  because of kd symptoms
MikeG   as a matter of fact, carofer, I was just checking on that.
MikeG   there are a number of Joomla apps that we need to look into
chuckk3   No the Canadian dollar, lol i try and keep active. Most times pushing myself to hard, its all good for now Carofer.
MikeG   most of them are written for version 1.5 and we're running 3.x
carofer   our company has support people in newfoundland and nova scotia. sounds chilly.
chuckk3   I might Mike, for the conference and winter.
Ron M   Good morning all
MikeG   oh yeah, the dollar used to be in your favor...
Gary_KC   Good morning. This is gary joining in from Overland Park near Kansas City.
MikeG   hi Ron
Ron M   Good morning Gary. How is the weather in KC
MikeG   just found out this morning that I can't use Chrome
chuckk3   Hi Ron  and Gary
Ron M   Hey Chuck. 
Gary_KC   Hi chuckk3
Ron M   Mike, why can't you use Chrome ?
MikeG   they dropped support for the Netscape API
EdM   Good morning all!
Ron M   Good Morning ED
carofer   i live about 5 miles from watsonville airport, which is filling up with lear jets and gulfstreams for the super bowl
MikeG   I got on the srver and saw where Hugo couldn't get in either
chuckk3   Morning Jackj
EdM   I could only get in using mazilla
Gary_KC   Hi MikeG, it is blue sky with 35 degrees this moring.
jackj   Good morning from Southern California everyone
Ron M   Mike - wow. Didn't know that. I am getting pretty tired of IE. I was going to use Chrome more
Ron M   Jack - don't rub it in. I am from Chicago. Its a nice day though here
MikeG   even MS Edge didn't work!
chuckk3   Any rain there yet Jack?
MikeG   I'm glad you got in, Ed.  What's he latest KD research looking like now?
jackj   Ron, I grew up in Chicago, but the USMC offered me an opportunity to become a private.  been here ever since 1969
EdM   I think that the best result recently deals with a study with Duchenne's Dystrophy and not KD
jackj   Please tell us more
Ron M   Moving out of Chicago was a good decision
EdM   Duchenne's is  a genetic disease in which the defect is in a gene that codes for a protein called dystrophin
EdM   Like KD, most of the previous methods of dealing with Duchenne's was to try drugs that were hoped to interfere with the alleged molecular mechanism - and like KD, seemed to work in animal models but were not that effective when tested in humans.
EdM   The 'gold' standard cure for any genetic disease would be to remove the mutated gene and replace it with the normal one
carofer   And that would be done with a virus, Ed?
EdM   This problem with this is that there was no way to change the gene in millions of cells
Ron M   Good morning David
EdM   In the last few years, as Mike mentioned, a technique called CRISPR was developed that would cut out a specific piece of DNA from a specific gene (that the researcher could determine) and then replace the cut out sections with another specific piece of DNA, again, one that the researcher could determine.
david   Good Morning all had trouble with Java and my new computer, switched to old laptop
Gary_KC   EdM, can you please explain what is different animal models from humans?
Ron M   ED, with CRISPR - can this be done on an adult and have positive effects ?
MikeG   I hope everyone has seen the CBS video on CRISPR that Ron put on the website.
EdM   The technique utilized a set of proteins from bacteria - so intially, this was considered a great technique for test tube research but of little value in an intact humans as we cannot make the CRISPR proteins.
MikeG   it's under the What's New link
Ron M   Ed - so should we be hopefully of the CRISPR technology ?
EdM   What they did with the Duchenne's was to take the genes for CRISPR from the bacteria (this is what one would need to make the CRISPR proteins) and put them into the muscle cells of mice, along with the instructions to cut out the mutated part of the dytrophin gene and replace it with the normal gene.
EdM   THey then showed that the normal gene was now present in the muscles of these treated mice and the symptoms of the disease was lessened in these mice.
EdM   This demonstrated that the idea that one could change the DNA in an adult is possible.
EdM   This is really, to me, revolutionary.
MikeG   yes, it is!  But when will they actualloy begin trials???
MikeG   is any other country doing that now?
EdM   There are still technical issues to overcome, but if it pans out, there is no reason it should not also work in KD
Ron M   Do u think the issues can b overcome ?
EdM   From what I understand, there are problems with size and with specificity.
EdM   I am not a CRISPR expert, but the techique has been quickly (in the science view of quickly - several years) improving and it is expected that it will continue to do so.
EdM   I do not think we will see this in humans for a while (years) - 
EdM   In KD, I can imagine there may be issues on specificity - what cells to send CRISPR to, nerve cells or muscle (or both) and then one has to develop the procedures to specify the cells
MikeG   at least things are looking good and making advances
MikeG   hi Matt
EdM   Nonetheless, I think that it has great possibilities - and I am usually not too optimistic.
Ron M   Good morning Matt  
mattsenac   Hey Mike and everyone 
carofer   are any of the kd researchers looking specifically at CRISPR?
chuckk3   Hi Matt
EdM   There was another paper from NIH (Kurt's lab) where they used iRNA to block the synthsis of the mutant androgen receptor and found that the mice got better
EdM   This is similar to work from LaSpada and from Lieberman that had been published a few years ago.
Ron M   Ed - Can u send me a link to that paper and I will get it on the website 
EdM   These were done in conjuction with drug companies and I would not be surprised if there would be a clinical trial (I think that there is one starting using the same technique in Huntinton's Disease) now,
EdM   The CRISPR work is very new and I do not know if anyone is working on it in KD. I suspect that someone will be soon - we can probably get that answer at the KDA meeting in San Diego, so you should plan on going!
EdM   Ron: Kurt's paper is here -
Ron M   Ed - thank u
MikeG   hopefully, we will get some good research grant research requests for that this year...
jackj   Ed,
EdM   Mike,  my guess is that out 50000 dollars will not pay for much in this field (but what do I know!)
MikeG   probably true
EdM   Ron, this is the crispr paper:
jackj   Ed when you cut out a mutated part of a gene and replace it with a normal gene hoe does that propagate to the rest
MikeG   I bet the NDA will be looking at that BIG time though!
carofer   have any kd people tried the robotic exoskeletons like Ekso?
mattsenac   No but I would love to 
MikeG   no, but I sure would like to!
Ron M   Ed - what reasearch r u most positeve about regarding KD?
EdM   Jack,  I am not sure if I understand.  What happens is that they use a virus that normally attacks a specific cell type (like muscle), remove the DNA from the virus and replace it with the DNA needed to get CRISRP to work ...
carofer   the trials appear to be with veterans, so kd veterans might have a leg up
Gary_KC   Ed, do you have any updates other than CRISPR?
EdM   The virus with the CRISPR DNA in injected into blood, goes to the muscle cells and instead of injecting viral (bad) DNA, injects the CRISPR DNA ...
EdM   The CRISPR DNA then lets the muscle cells make the CRISPR proteins which then should (and in the mouse, did) alter the DNA in those cells only.
EdM   DNA in other than muscle cells is not affected.
mattsenac   I'm up to signing my life away to replace the mice trials. How do we get passed the trial? 
EdM   But the gene in a liver cell, for example, is not thought to be involved in the disease (at least in Duchenne's) so it is not necessary to correct it there.
MikeG   but we may need nerve cell intervention also?
MikeG   or instead of...
EdM   fKD may give rise to other issues - the androgen receptor (the mutated protein) is made in many cells and may have effects (sexual issues, gynomatica (sp)), so we might want to alter the gene in other cells as well.
EdM   Mike, yep
EdM   It has great possibilities but it is not ready for prime time yet.
EdM   The other techniques with iRNA or ISO's are much closer to clinical use.
david   EdM if I remeber correctly getting to nerve cells requires getting past the blood-brain barrier issue(s), right?
MikeG   the web is full of articles on CRISPR - there is one from Business Insider called "A major gene-editing company just got $335 million to get its technology into people"
EdM   ISIS is recruiting for a trial with Huntington's Disease and if it would work for them, it should work for us
MikeG   things are happening!
EdM   David,
EdM   David, one could either inject into the cerebral spinal fluid or use a virus that can go from the blood to the brain (rabies might do that but that might create other problems)
mattsenac   That is good
EdM   If I had to guess, for the people here, the ISIS work is most likely to be of use; for the next generation, the CRISPR technique 
carofer   Last that I heard, virus injection trials were killing people. Has that improved?
EdM   Gary, just saw your question, I mentioned a study earlier using RNA inhibition that shows promise - and that is the basis of the ISIS trial on HD
Gary_KC   Ed, thank you.
EdM   If you had not heard of this, here is a paper with excercises that seen to improve swallowing in KDers.
EdM   Basically, pushups for the neck!!
carofer   I have been using that exercise for the last few weeks and it seems to work
carofer   I was having some issues with vitamins occasionally
jackj   Ed,  thanks for sharing your knowledge on this stuff.  it is very helpful and encouraging to know that the Crisper path holds real promise.  as a layman I am used to thinking of tecnology advances in terms of months guess I need to rest expectations for a much longer time frame
EdM   carofer, just saw that; there were some trials years ago where they used a viral technique to deliver genes.  From what I remember, the issue was not with the delilvery system but with the DNA injected
carofer   thx
EdM   THere may be other issues but there have been several recent trials using a viral delivery system that were successful, I seem to recall one for correctly cell degeneration in the retina of the ey
EdM   eye
EdM   HI Jack,
EdM   Jack, it just that it is quick to try a technique in an animal and they may miss some confounding factor as they only use a few animals
EdM   When they take the step to humans, 'they' cannot afford any issues
EdM   They are now working with thousands or millions of humans and now any small side effect will be magnified
MikeG   Ed, do you know anything about taking Food Grade H2O2?
EdM   Think thalidomide
EdM   I have no idea what food grade H2O2 is - someone wants to drink hydrogen peroxide?  
MikeG   I've been on it for several months now and feel better although my strength has not changed.
MikeG   3 drops in 6 oz of distilled water
EdM   I know nothing about it but I would be quite surprised if any of the hydrogen peroxide makes it to the blood - but I do not know
jackj   Thalidomide... a sobering comparison to be sure
MikeG   do a search on The truth about FoodGradeHydrogenPeroxide
EdM   It just shows how a mistake is never forgotten
MikeG   it's just another oxygen atom from water
MikeG   Thanks for another GREAT chat, Ed!!!
Ron M   Ed - a huge thank you for sharing ur knowlege. Hopefully the fingers aren't too sore from the typing. This was extremely helpful. Aprreciate what u do for the KD Board and community.
mattsenac   Yes Ed, thank you for your time and efforts
MikeG   I jst hope we can get a Joomla extension to replace this Java enbled one for next time.
EdM   So, who is hoping for a Carolina win?
Gary_KC   Ed, thank you very much for your time to share your updates with us.
MikeG   GO DENVER!!!
carofer   i am rooting for the denver panthers
Ron M   Denver  all the way ED
mattsenac   Ed, I'm not ready for a years worth of how great Cam is, so I am rooting for Denver :)
jackj   Huge upset if the Panthers loose.  Newton is reengineering football
chuckk3   Thanks for your time Ed
carofer   thanks a lot ed
Ron M   Everyone. Be careful, stay upright and have a good weekend. Hopefully talk to u soon. Be well. 
chuckk3   Panthers!!!!
jackj   Me too.  great session!
chuckk3   Thanks Ron, HGW
MikeG   take care everybody
EdM   So long
frabayrui   hola desde ESPAÑA