The TS Alliance alerted me to a very interesting research finding as of late. I have mentioned this rare disease of mine a few times, but it is basically a genetic disorder that causes benign tumors on several of the body’s organs. It wreaks havoc to say the least, sometimes causing epilepsy & autism, as well as other issues. In my case, it also led me to developing LAM (though there is a sporadic form of LAM). As I was growing up, 2 genes were identified through research. I remember hearing rumblings of a possible third gene in the past few years.
The third gene question came due to a high rate of genetic mosaicms being reported. In other words, uncommon mutations, or those previously unreported or detected.
This paper, published by David Kwiatkowski & colleagues is important, because it puts the rumbling of a third gene to rest. Like most genetic papers, it’s a bit to read through, but it’s worth sharing because there are also some interesting visuals that illustrate why this finding is so important to the TSC community.
This important news comes just a few months after the 2015 International TSC Research Conference, which always leads to more understanding & interesting findings into the disease. A summary of the conference can be found here.
We’ve come a long way in a short time with our research, even if to most people it doesn’t feel that way. Some diseases it takes a much longer time frame to uncover the genes & chromosomes involved, yet in less than 40 years, we have identified ours. We continue to learn more all the time.
But this just is more proof to me why our basic science understanding has to be kept in equal regard & importance to our clinical research. I think our community as a whole does take a more balanced approach in this regard & I only hope that continues to be the case with future research.