Post by Sharon on Aug 13, 2012 11:39:40 GMT
As you know, the work is on target for completion in December 2012 and they have provided a status update.
The work being done is called Exome screening -- the examination of our genotypes in all protein coding genes. The geneticist(s) are doing a comprehensive sequencing job with these samples.
A subject population of 23 patients (whose phenotypes are known as a result of having previously been tested for TMAU) is being used.
In addition, ancillary evaluations are being done with some patients to substantiate some findings through analysis of their medical history and disease progression.
Besides examining the main symptom - the bothersome malodor -- new knowledge about the genes involved, TMA metabolism, Choline metabolism, the significance of gut bacteria, and heart disease is emerging. (Don't panic about the last bit
-- it's all good. Several researchers are looking at whether people with high levels of TMA may have significantly less risk for heart disease.)
One significant finding at this stage is the confirmation that 'The range of odor symptoms may not be wholly explained by the known spectrum of genotypes in the FMO3 gene alone. There may be individual differences in other genes in the
choline metabolism pathway that result in excess trimethyl amine.' (There are other genes involved, there most likely are other deletions and mutations yet to be discovered in known and unidentified genes as well. So, if you personally don't have much answers at this time, don't despair - we're all in the same boat.)
So, KEEP HOPE ALIVE. We are game changers all, people with this horrible condition who have battled to survive and thrive, despite the odds. We came together with the leadership of Cheryl M. and Amanda and raised critical seed money which is leading to a flowering that will benefit all of us in the TMAU
and medical malodors community. We have a long way to go, but we will get there. Tech advances, the will to overcome, our advocates and emotional support
are all combined to be our fuel.
Oh what $40,000 has done. Thanks again to all who contributed with $10 and $10,000 checks -- angels all.
December is right around the corner.
The work being done is called Exome screening -- the examination of our genotypes in all protein coding genes. The geneticist(s) are doing a comprehensive sequencing job with these samples.
A subject population of 23 patients (whose phenotypes are known as a result of having previously been tested for TMAU) is being used.
In addition, ancillary evaluations are being done with some patients to substantiate some findings through analysis of their medical history and disease progression.
Besides examining the main symptom - the bothersome malodor -- new knowledge about the genes involved, TMA metabolism, Choline metabolism, the significance of gut bacteria, and heart disease is emerging. (Don't panic about the last bit
-- it's all good. Several researchers are looking at whether people with high levels of TMA may have significantly less risk for heart disease.)
One significant finding at this stage is the confirmation that 'The range of odor symptoms may not be wholly explained by the known spectrum of genotypes in the FMO3 gene alone. There may be individual differences in other genes in the
choline metabolism pathway that result in excess trimethyl amine.' (There are other genes involved, there most likely are other deletions and mutations yet to be discovered in known and unidentified genes as well. So, if you personally don't have much answers at this time, don't despair - we're all in the same boat.)
So, KEEP HOPE ALIVE. We are game changers all, people with this horrible condition who have battled to survive and thrive, despite the odds. We came together with the leadership of Cheryl M. and Amanda and raised critical seed money which is leading to a flowering that will benefit all of us in the TMAU
and medical malodors community. We have a long way to go, but we will get there. Tech advances, the will to overcome, our advocates and emotional support
are all combined to be our fuel.
Oh what $40,000 has done. Thanks again to all who contributed with $10 and $10,000 checks -- angels all.
December is right around the corner.