Tuesday, July 28, 2009

NSA conference 2009: Genetics

There was a research symposium at the NSA conference 2009. A Stuttering Brain reader sent me his notes and comments. If you have more, please send them to me. You can also order a DVD, but I wonder why they don't just put them on Youtube for everyone to see. Behnaz also blogs about the symposium here but I am absolutely not impressed by her summary which seems more like parroting the announcement and meaningless hyping and repetition "...invited five top researchers who represent the “who’s who in the world of stuttering." I hope her promised in-depth summary will be real journalistic work.

The most interesting and scientifically most rigorous talk was surely from Dennis Drayna, the leader of an NIH genetics team entirely dedicated to revealing the genetics of stuttering. Jerry Maguire, the chief investigator for the Pagoclone, was also there, but the trials are still running and an article for Phase IIa is still nowhere to be seen in a journal and other reports are fuzzy at best. Larry Molt had the audacity to talk about auditory devices (so I heard), but at the same time he has ignored emails from several different people asking him about the results of his studies but has time to attend conferences, obviously not having published the research study anywhere in a journal for the wider public after more than 5 years and providing actively or passively a cover to Speech Easy to hide the lack of evidence on Speech Easy; unacceptable and unprofessional behaviour in my mind and in the minds of others who as usual dare not to speak out for political reasons. I would like to know what he said in his talk.

I will just focus on genetics based on previous talks I saw and on a reader's notes:
  • 50% have a family history i.e. genetics component.
  • other half unknown but could probably neurological incident like perinatal hypoxia
  • severity varies significantly within and across people though genetics component is stable.
  • stuttering therapy can eliminate but genes stay. [Tom: only temporarily in most cases]
  • stuttering families most interesting: focus on Pakistani families. [Tom: there is also a Cameroon families but the studies are less reliable also because the family trees are less "stable" i.e. too many affairs... ;-)]
  • on 44 families: identified region on Chromosome 12 which contains about 90 genes.
  • major article in science journal under review and news embargo. [Tom: could be the identification of the one of the 90 genes. As always, I completely disagree with the big journals policy, they are destroying real debate and make scientists look like schizophrenics]
  • mutation in that gene is related to stuttering in that family, in other families, and unrelated Pakistani individuals.
  • gene codes for protein that is part of a metabolic pathway. [Tom: If I had to bet, I would say it's dopamine pathway. Would fit with the Chinese article and suspicions from various sources that the basal ganglia is dysfunctional in at least some stutterers.]
  • two other genes were localized, where the mutations are related to stuttering.
  • the three genes account for less than ten percent of all familial stuttering.
  • work is in progress on another Pakistani family on Chromosome 15 but is more difficult to do. [Tom: maybe it is more than one gene, but not sure.]
Here is my take. No surprises here but would be nice to finally hear the name of the first identified gene of stuttering! Genetics of stuttering is not about one gene, but about many different genes that are related to stuttering, like in other disorders. For example, deafness has 10s of such genes. The work is not easy and not many teams are working on this. We should not pin our hopes on a genetic cure, but rather on finding more and more mutations in genes, and hope that those genes' function is already understood from other experiments and disorders. Such insight can give us better clues on what can cause stuttering in this specific case of a genetic mutation and in the cases where a neurological incident has affected the same functions that the gene's proteins provide. Again, genetics seem to suggest that there are many different ways on how the speech system can break down and induce dysfluency. This has an impact on how stutterers are treated, and might explain why some can recover better than others. But such an approach requires very sophisticated expertise. And again, genetics provides the seed for stuttering but does not seem to condemn us to a life of stuttering but rather forces us to live with a sensitive speech system and to struggle with controlling our learning bad habits, associations to stuttering, psychological reactions, and social handicap.


Pam said...

Hi Tom,

I attended the NSA conference and went to the research panel. I honestly had a hard time with it.

Each presenter had only 12 minutes,and tried to cover a great deal of info in a very short time. The moderator then took questions from the audience.

I felt fortunate in that I was familiar with all of the presenters and had either heard them speak or read their papers on ISAD. I think first-time listeners may have been overwhelmed by way too much info in too short of time.

All 5 presenters (Maguire,Molt, Sissken, Manning,and Drayna) used powerpoint, but we were not provided with notes or hand outs. That would have been very helpful.

I think some parents were really clamoring for information, but this probably did not help. One hour presentations from each would have been much better. I believe Maguire and Drayna did that, but I did not attend. Too many time conflicts with the 60 or so workshop choices. Maguire presented info at this past weekend's Friends conference, which I also attended.

One very interesting note that Molt mentioned was Snyder's work on the inexpensive ipod model for ADF. I actually participated in his trial for that a couple of years ago.

I could tell some people were interested in low cost alternatives, but again,(in my humble opinion as a non-professional) too much information in too short of a time.

I too visited Behnaz' summary and concluded same as you.

I mentioned some of the NSA moments in one of my blog posts, but did not feel qualified to comment on the research, so left my comments to feelings and attitudes!

Thanks for your info!

Anonymous said...

It's interesting that Drayna has now identified chromosome 12 as the "root cause of stuttering". If you look at the following website, you will see that Drayna once implicated chromosome 18:

Also on this site, you will notice a photo of a smug-looking Drayna, in which he had more hair and looked a lot younger and slimmer - so it was a few years ago. Now that he is bald, grey and fat, he is implicating chromosome 12. And this too will come to nothing - much to the disappointment of the self-styled "gurus" who engage in mindless and ignorant debates on the stutteringchat yahoo group.

All this reminds me of the "ground-breaking" research into schizophrenia of the 1980s, where the very same techniques were used. In the 1980s, it was announced that DNA in chromosome 5 was linked to schizophrenia in families in Iceland and England. This was announced in a 1988 issue of "Nature". The amusing thing is that other researchers found no such linkage in Swedish families - and those results were published in the very same issue of "Nature"!!! In 1993, the researchers did a more extensive analysis involving a greater number of British and Icelandic families, and their results also found no linkage. Their 1988 result was finally (and quietly) retracted five years later!!!

Unfortunately for people like Drayna, disorders like stuttering and schizophrenia are very complicated, and are likely to have multiple causes - too complicated for current genetic analysis techniques. But the good news is that genetic analysis techniques are improving.

I look forward advances by Chinese researchers.

Tom Weidig said...

>> Now that he is bald, grey and fat,..

Can you please refrain from such words... Focus on the issue!

And no the last time I visited him he was not fat! In fact, he looked very fresh and good for his age! ;-)


O said...

In december 2007, there was a link on StutterTalk, which looks like


O said...

Ooops sorry ! :-)

Anonymous said...

>> Can you please refrain from such words... Focus on the issue!

I think I did focus on the issue, and I did it very well. And there's nothing wrong with being bald, grey and fat so I wasn't being insulting in any way.

Anyway, the Chinese researchers seem to be doing a much better job.

Tom Weidig said...

Bald and grey is fine as it is a natural aging process that I experience in its early stages! But fat is not!

Anonymous said...

hey, the mcguire people says that losing your stutter is like trying to lose weight, wake up one hour early or stay up one hour late to work on your speech and practice your techniques...

Stuttering and Fatness are two things the society still discriminate against (prejudice).

Politically incorrect to laugh at someone in a wheel chair, but begin fat and/or stuttering is still "fair game"

Anonymous said...

You wrote:

"Bald and grey is fine as it is a natural aging process that I experience in its early stages! But fat is not!"

And neither is taking cheap shots at a lady's hair-style :)

Everybody knows that Santa Claus is fat, but everybody likes him. Maybe, instead of "fat" I should have said something like "weight-challenged". My point was that Drayna implicated one particular chromosome when he was young, and now that he is older (oops, more chronologically challenged), he's used similar techniques and has implicated a different piece of DNA.
Anyway, no more from me on the subject - I've made my point on Drayna's "research".