The genetics & basic science research of tuberous sclerosis complex (TSC) can be hard to follow at points, even for me. I do find it highly fascinating even if it’s harder for me to wrap my head around than the clinical research.
I remember sitting in a conference listening to David Kwiatkowski, MD, PhD give a presentation at a conference once & being in awe with what he was accomplishing with fruit flies (drosophila) at the time in the research space. This was probably at least 10 years ago now (if not more). It took me a while though to wrap my head around the genetics for myself in a relatable way. Don’t ask me to break down to anyone, that is one area I still struggle.
A few years later, I’d listen to Hope Northrup, MD, give a basic talk on genetics & then it finally “clicked” for me a bit more. At least the basic underpinning of what makes this particular disease of mine “tick”. I have always understood from a biological perspective the interplays involved, but relaying that to others or breaking down the nuances for myself can be hard, even for me, as much of an armchair “science & research geek” as I am.
However, I felt this notice was worthy of a mention. The intricacies of this technology are a bit beyond me now. I have to break down & dissect it further at a later time.
Essentially, the basic premise behind technology like this is genome-editing. This in turn is typically used by researchers to produce certain strains of “knockout” animal models to further study a disease, (like tuberous sclerosis complex, for an example) on a very basic level. In using “knockout” animal models researchers learn more about cell signaling, growth, & division amongst other things & how they interplay with genetic mutations & the cell signaling pathways.
(Perfecting knockout models has been & continues to be a key element in so much of current TSC research. This method of use is still in relative infancy as most sources I found in searching the prevalence of CRISPR technology in TSC research previously published studies only date back to about 2013).
This Nature article abstract sums it up in a fairly straightforward manner. This Gizmodo article is as close to a basic primer as to why this is important on a scientific level as I could find that might be relatable to those not as familiar with research but still relays the scientific importance.
What I do know on a very basic level from sitting on peer-reviewed research panels, is that for me, I have seen great impact to be gleaned from methods that use high-throughput systems to screen for new drug targets in tuberous sclerosis complex (TSC) (CRISPR is one means to that end as well.).
What exactly does this yield? It leads to the development of new agents or testing existing ones. It may lead to new drug targets. New drug targets can potentially lead to new treatment advances, possibly or potentially to new clinical drug trials. Which all of these, in turn, enhance quality of life down the line.
I realize like with many research methods where one is actively editing DNA/genomes, there is always the potential for abuse & ethical violence (we’ve all heard the “designer baby” arguments, amongst others). Yet, this must be weighted against the vast potential benefits to alleviate suffering in this disease & in turn many others.