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Scoli genes
The reason I'm not a scoliosis researcher is there is no funding for serious research. While I was at the NIH in gene therapy research, I made a push for more funding, but apparently at some point in the past, a group of spine surgeons went to Congress and told them there was no need for funding scoliosis research as the disease was able to be cured from surgery. After an event like that, it's difficult to recover from a funding standpoint.
I doubt very much that the AIS gene mutations will be anything like mutations for the adult onset, but I could be wrong. There will still likely be a hormonal component however. I'll have to ponder that question for a bit.
Twin studies offer little of value past the initial concept of a hypothesis. Remember, twins are not clones (no matter what the FBI says). They are only identical at the time of conception. There are a handful of reasons twins do not have exactly the same DNA after that point, males more so than females. But I think everyone is probably familiar with identical twins that are very very different in appearance, either from your community or from the Discovery Channel
They're not clones.
If this disease were environmental, given the enormity of the population that is affected, one would expect to see large, non-familial pockets where entire communities were affected with the same curve. You'd have epidemiologists from around the world converging on those sites to study the phenomenon. That would happen wherever the environmental factor was strongest. But the disease is pretty homogeneous throughout the population of humanity.
I suspect that the male form of AIS may be fatal in-utero in many cases due to the high fluctuations of hormonal activity during that time. That would account for the percentage discrepancy between males and females as well as the overall greater severity of the disease in males.
For real scoliosis treatments that are in our future, we'll have to wait on gene therapy. Someone will have to fund the gene array sequencing, probably for Miller at Hopkins. Luckily, that's getting cheaper. Don't hold out for gene therapy for our generation though. There's lots of stuff to work through on that end and many countries are being rather negligent with their technique [read: China] and making promises they can't possibly fufill, getting transfected virus into the community (yikes), and other rather dangerous things.
As for multiple sclerosis being genetic, try reading the following article, it's pretty current:
Mol Cell Probes. 2010 May 5. [Epub ahead of print]
The genetics of multiple sclerosis: An update 2010.
Hoffjan S, Akkad DA.
It's a good read. There are over 4,000 other peer-reviewed articles I can point you towards if you're seriously interested in the genetics of that disease. There are also lots and lots of MS gene therapy clinical trials out there- since they're targeting a mutated gene with those, the genetic component is just a given.
Have a great day everyone
The reason I'm not a scoliosis researcher is there is no funding for serious research. While I was at the NIH in gene therapy research, I made a push for more funding, but apparently at some point in the past, a group of spine surgeons went to Congress and told them there was no need for funding scoliosis research as the disease was able to be cured from surgery. After an event like that, it's difficult to recover from a funding standpoint.
I doubt very much that the AIS gene mutations will be anything like mutations for the adult onset, but I could be wrong. There will still likely be a hormonal component however. I'll have to ponder that question for a bit.
Twin studies offer little of value past the initial concept of a hypothesis. Remember, twins are not clones (no matter what the FBI says). They are only identical at the time of conception. There are a handful of reasons twins do not have exactly the same DNA after that point, males more so than females. But I think everyone is probably familiar with identical twins that are very very different in appearance, either from your community or from the Discovery Channel
They're not clones.If this disease were environmental, given the enormity of the population that is affected, one would expect to see large, non-familial pockets where entire communities were affected with the same curve. You'd have epidemiologists from around the world converging on those sites to study the phenomenon. That would happen wherever the environmental factor was strongest. But the disease is pretty homogeneous throughout the population of humanity.
I suspect that the male form of AIS may be fatal in-utero in many cases due to the high fluctuations of hormonal activity during that time. That would account for the percentage discrepancy between males and females as well as the overall greater severity of the disease in males.
For real scoliosis treatments that are in our future, we'll have to wait on gene therapy. Someone will have to fund the gene array sequencing, probably for Miller at Hopkins. Luckily, that's getting cheaper. Don't hold out for gene therapy for our generation though. There's lots of stuff to work through on that end and many countries are being rather negligent with their technique [read: China] and making promises they can't possibly fufill, getting transfected virus into the community (yikes), and other rather dangerous things.
As for multiple sclerosis being genetic, try reading the following article, it's pretty current:
Mol Cell Probes. 2010 May 5. [Epub ahead of print]
The genetics of multiple sclerosis: An update 2010.
Hoffjan S, Akkad DA.
It's a good read. There are over 4,000 other peer-reviewed articles I can point you towards if you're seriously interested in the genetics of that disease. There are also lots and lots of MS gene therapy clinical trials out there- since they're targeting a mutated gene with those, the genetic component is just a given.
Have a great day everyone
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