Thursday, March 04, 2010

The most important scientific experimental discovery ever?!

I was rather shocked to hear Dennis Drayna say on CNN:
People have looked for a cause of stuttering for 5,000 years," said Dennis Drayna, a researcher at the National Institute on Deafness and Other Communication Disorders, and a co-author of the study. "Many, many things have been suggested as a cause of stuttering. None of them have turned out to be true. For the first time today, we know one of the causes of this disorder.
My first reaction was to discard his comment as a science ego going too wild, and to write a post on how wrong he is. So I have been thinking a bit more about the recent discovery revealed one year ago on this blog. And I have to say that I completely agree with Dennis. This is the most important scientific discovery about stuttering ever! I mean ever, and I do not think that another experimental discovery will come that is of as important significance to the understanding of stuttering as this one.
As I explained here, there is now a clear correlation between a gene mutation and the disorder. In a sense that's all we need and that is what has been missing all these years. All previous findings were statistical in nature, but here we seem to have a one-to-one correspondance. It's like getting a foot in the door. That's all you need, and the rest are details, i.e. years of long detective work.
The key is that scientific questions can now be asked in a sharper and efficient way:
- create subsample of just those with mutation and do many experiments. the signal should be much clearer.
- what does this mutation exactly do?
- understand the impact of proteins on cells.
- which cells are sensitive to this and why?
- search for other genes that cause stuttering.
- many more genetics teams should take up this challenge.
- is there really a one-to-one correspondance? look deeper.
- where does the modulation of the disease come from.
- can we give a substance to compensate for damage?
- ask for much much more funding.
- many more real scientists because they see hard facts and want to work on it.
- neuroscientists who did stutterers need to ask themselves what this discovery meme for them.
- therapists have to face the fact of a biological basis.
- what is the role of these sensitive cells in speech and language?


Mark B. said...

What they did was certainly a first, but they still have no idea what the biological mechanism is. It has actually been known for decades that stuttering is heritable in at least some cases - they just located candidate genes. If you wanted to be difficult, you could say that they still only have correlation. It's the physiological process that you need to know. Today, stuttering is still entirely a black box process.

Tom Weidig said...

Yes, but with this discovery we have finally a grip on the black box. We can write down concrete quantitative questions.

This correlation is extremely important, because we can now zoom in and study the correlation in great detail. Name any other discovery in stuttering with such a clear correlation!

It's like a computer bug, once you know under what circumstances it always occurs, you will find its causes at the end of the day.

There is a very big difference between knowing stuttering is heritable for many to having a single mutation correlate to occurence of stuttering. We went from the qualitative and probabilistic to the quantitative/physical and uni-causal.

This transition is of uttmost importance for true science.

Anonymous said...

If its been found and if its the greatest discovery.. all that is left now is...


Why has it taken 5000 years becuase no one was really interested in findin the cause or solution.. WORK IS DIRECTLY PROPORTIONAL TO FUNDS ALLOCATED!

eventually 1% of the population and Everyone one of them can do anythin to be cured.. so this is one investment no company can refuse... NO COMPANY!

Please someone get this message across to all those companies out there and ALL THE BEST EVERYONE!

Now if we dont push this forward then shame on us! :)

Anonymous said...

what about the SpeechEasy???