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.