The 3rd Gene Rumbling in TSC Has Been Silenced

 

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.

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CRISPR-Based Knockouts: A More Effective Animal Model In TSC Research?

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.

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Transplant Advances: Simultaneous Stem Cell/Kidney Transplant – Can The Combination Negate Need For Immunosuppressants?

I was hesitant to share this particular news before because I couldn’t find any real sources to verify what phase of clinical trial it was in.  But I find this news highly promising. Yet, I’m trying not to get my hopes up too soon.

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Unique Transplant Studies: Transplant Criteria Biased Against Shorter Patients

Science Daily is fast becoming a go-to for me for interesting perspectives on transplants lately.  There’s always something new I learn. Or I learn more about something I was already aware of.  Their most recent news release being no exception.

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Transplant Advances: New Life For Pig-To-Human Transplants

I know “science-y” stuff like this Nature medicine news feature is a hard grasp for some people.  But allow me to try & break down why articles like these are important from a practical standpoint.

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Crowdfunding Research: A New NonProfit Funding Vehicle?

I waited to comment on this campaign until after it was over.  I didn’t want it to color or cloud the novelty & I also wanted an honest evaluation of meeting the outlined expectations & goals.  The TS Alliance works very hard on creating new & innovative ways to fund research. I will always appreciate & champion that.   That said, I do think this is worthy of a larger discussion because certainly other organizations will see this & try & copy or put their own spin on it; which could raise some potential red flags. I’m not “picking on” the organization with these thoughts.  I’m playing devil’s advocate because I know other organizations are certain to see this. They’ll also want to try to replicate it for themselves (like any new idea). They may already be doing that & I’m just not aware of it.

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800 Pound Gorillas Starving When They Need Feeding

Thinking outside of common subjects that my rare disease communities are hesitant to discuss (for fear of coming across as morbid or negative), I was thinking of innovations we should be celebrating, but are hesitant to because they may run afoul of our friends & family’s personal ethics & would cause several heated personal & social media discussions over the ethics involved.

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