I woke up to a pleasant surprise this morning. I have to thank my tweetchat & Twitter friend, Joe Babaian, for passing along this lead.
This release is very preliminary. That said, I found it interesting as I have always felt (as have others) that it wasn’t just the MTOR pathway alone that was at work in both of my diseases (LAM & TSC). This seems to confirm that theory.
I’m taking a bit of an unorthodox approach with this blog post. I was able to obtain the actual study. Since it’s behind a paywall, it would be a copyright violation & violation of several terms of service for me to post it here & share it. However, patients & caregivers can purchase the study at a reduced cost through the Copyright Clearance Center RightsLink program. I just hyperlinked right to that study for those interested.
I did skim it & will dive into it later, but it’s very scientific, technical & without a “lay” abstract to summarize the finding for the general public, so I’m hoping to change that & distill the releases & study itself down into something more easily understood.
I’ve asked for some help from my friends within the research community in crafting this post & analyzing this finding.
This includes a few researchers I respect and admire, a few staff from my nonprofits I volunteer for, & maybe even a few of my fellow LAM & TSC volunteers & community leaders.
As I get perspectives from certain people, (with their permission) I will post them here as to the impact they see this research having within the community.
After I have had a chance to process everything myself over the next few days, I’ll add my own perspective & summary at the end of this post based on the collective whole of what my friends & my own impressions are as to the significance of the research.
I think this is a unique way to evaluate this finding from within our own community. I’m hoping for some great & interesting responses.
More releases reporting this study finding:
UPDATE 3/4/15: After discussing these findings with both researchers & picking apart the study I had more than 15 questions I felt that might come out of my communities. Therefore, I hope to make a few posts next week to highlight & explain this finding as it will be much longer than this post will likely allow.
But based on my conversations with others within the community it’s an interesting finding & potentially big. What may not be known was that there was a precursor study to this one done. So this is something that has been worked on, but is important because it builds on the basic understanding.
For those in the community that have concerns, the caveat by everyone I’ve talked to in the research community is that this does not negate our current or past research. Instead it adds to our broader picture & understanding of both diseases.
Think of these diseases as having a big loop of activity. mTOR as one potential pole of that activity, HMGA2 as another.
It’s important we find out more about both poles & how they do or don’t interact to make true progress in both diseases & where they fit into that loop.
Only then can we truly see the big picture & solve this riddle that we’ve been chipping away bit by bit as to how our diseases tick & how we minimize the havoc they have on our lives.
Stay tuned for more shortly.
I want to thank both Dr. Chada & Dr. D’Armiento for being so gracious in their time with me & for their dedication to both basic science & clinical research in both diseases.
Thanks also to Dr. Henkse, The TS Alliance, The LAM Foundation, Susie Picart, Mary Harbaugh, Nicole Wipp & others who helped me dissect this news & compare against our current understanding & knowledge.
But then, in chatting with them all, helped me formulate better questions that hopefully even those without a scientific background might appreciate & understand this finding better.
I’m truly fortunate to be part of such a great community that values research but where our involvement as individuals with these diseases is welcomed & utilized.
So many of our researchers not only spearhead research but are also vested in clinical care so they see our issues day in and day out. They are as committed to fighting this as we are.
While it may give their work extra meaning, it also requires many sacrifices on their part. Such sacrifices we’re truly fortunate to reap the benefits of.
I am one of the authors of the paper. If you wish and have the time, I think it is my duty to explain the research in more accessible language. So for much my life’s pursuit of writing my research in as simple as possible ways! As you have noted, our study goes totally against the entrenched views on the mechanism and genetics of LAM which has its own ramifications.
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That would be wonderful Kiran – I would love that — thank you for reaching out. Let’s make that happen!!!
I’ll give out the email I give out for the chronic illness blab: email@example.com for initial contact and we could go from there
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