With just less than a week to go before the big day, I’m proud to report that I’ve exceeded my fundraising goal of raising $5,000 towards narcolepsy research! Thank you so much your generous contributions. I’d like to share some exciting news about the important research that will be supported with this money. Well, there’s good news and bad news…
Lets start with the good news! Dr. Emmanuel Mignot of Stanford’s Center for Narcolepsy is one of the world’s premiere narcolepsy researchers. I’ve never met Dr. Mignot, although I feel like we’re old friends, as I’ve read and heard so much about him. Not only is Dr. Mignot a distinguished narcolepsy researcher, but he’s also a dedicated advocate for people with narcolepsy. I’ll never forget a quote of his I read in the New York Times back in 2007. The article described:
“Dr. Mignot is optimistic about cracking the immune-system connection in narcolepsy soon. ‘I don’t care actually even if it’s going to take a long time,’ he said. ‘I’m ready to cross deserts.’ ”
Someone willing to cross deserts for narcolepsy? My jaw hit the ground. Dr. Mignot’s determination means so much to me and all people with narcolepsy. It’s a light at the end of the tunnel, it’s hope for a brighter future.
Now, just two and a half years after that New York Times article, Dr. Mignot believes that we are indeed very close to cracking the immune-system connection to narcolepsy! As an autoimmune disorder, it is believed that narcolepsy is caused by autoimmune destruction of the 70,000 brain cells producing hypocretin, a wake-promoting substance in the center of the brain.
Dr. Mignot would like to continue along this line of immunology research by participating in the ImmunoChip project this June – where the genetic architecture of narcolepsy would be compared and contrasted with other autoimmune diseases to learn about the genes predisposing people to narcolepsy (and other autoimmune diseases). If proven that narcolepsy is an autoimmune disorder, it would be the first example of a neuronal specific autoimmune disorder, and could serve as a model for other diseases such as schizophrenia, bipolar disorder or autism.
But here’s the bad news: unfortunately, Dr. Mignot does not currently have the funding necessary to take his next step. In the past year, Dr. Mignot’s team at Stanford has submitted over eight grants for narcolepsy research to the NIH, with none having been funded.
Narcolepsy research receives very little funding compared to other diseases and disorders. Although the prevalence of narcolepsy is equal to the prevalence of Type1 Diabetes and Multiple Sclerosis, the funding for these other autoimmune-related diseases are thousands of times greater.
If Dr. Mignot were able to participate in the Immunochip project, our understanding of what immune pathways are disturbed in narcolepsy would be greatly increased. In addition, we would be able to design new therapeutic interventions and perhaps even find a way to detect narcolepsy in predisposed subjects before it starts and prevent it from developing!
Using similar technology, several hundred immune related susceptibility genes for many autoimmune disorders have been discovered (including multiple sclerosis, lupus, Type I diabetes, Inflammatory Bowel syndromes, Celiac disease/Gluten intolerance).
Without the necessary funding from the NIH, Dr. Mignot recently reached out to Wake Up Narcolepsy founder, Kevin Cosgrove, in hopes that there might be some alternative way to fund this vital research. Dr. Mignot stated that,
“I am keen to participate, not only because it is the right thing to do scientifically but also because it will raise narcolepsy knowledge and visibility to the level of other autoimmune diseases that are much better funded and studied.”
Wake Up Narcolepsy has committed to doing all that it can to help support Dr. Mignot’s work. Funds raised through my marathon efforts will be going towards this effort. Although this will not be nearly enough to fund Dr. Mignot’s entire ImmunoChip project, it is my hope that every bit counts.
Some of us will run marathons, others will cross deserts. There is no telling what a few determined people can do when they put their hearts and souls together for a worthy cause. We’ll beat narcolepsy, I know it.
(Please contact me at firstname.lastname@example.org if you’d like more information about what you can do to help us in our efforts to fund Dr. Mignot’s research.)
I'm not sure if you are aware of it but recently they found the antibody that appears to cause narcolepsy. http://www.jci.org/articles/view/41366
Trib2 is highly expressed (produced) on orexin neurons. Interestingly, Trib2 is also highly expressed on certain immune system cells, and in particular a type of leukemia called AML. This study is pretty much the smoking gun proving narcolepsy is an autoimmune disease.
Thanks for your comment. Yes, very exciting about the Trib2 antibody. This is part of the increasing evidence that narcolepsy is an autoimmune disorder. Exciting developments like this one compel Dr. Mignot to take the next step in line of research, the Immunochip Project.
-Julie a.k.a. REMRunner
Awesome post Julie! Thanks for the information. I did not realize Dr. Mignot needed the funding to continue his research. I am going to blast this if you don't mind!!
What is the significance of establishing narcolepsy as an autoimmune disorder?
Thanks for your question! The significance of establishing that it is an autoimmune disorder is this: Right now, we know that a particular group of cells, called hypocretin have disappeared in the brains of people with narcolepsy. However, we don't know precisely why this is happening. Why and how did a very small group of cells in MY brain disappear as opposed to anyone else's? Knowing why this neurological degeneration is taking place is a huge step forward in our understanding of this disorder and would shape the future of the research in this field.
The brain is full of great mysteries, so you have to take one step at a time towards understanding and treating it. Hopefully, research in this area will lead to novel therapeutics (treatments)in the future. In addition, the a greater understanding of what's causing the neurological degeneration in people with narcolepsy will most likely lead to advancements for many other conditions.
Thanks for your interest, hope that helps!
-Julie a.k.a. REMRunner
I just found your blog yesterday so I'm a little late in posting, but I was also thinking of the article that Matt referenced above. On top of all the other evidence, the actual confirmation of the presence of that antibody pretty much proves that Nw/C is autoimmune.
I think the most important info that might come out of the ImmunoChip study is discovery of any as-yet-unknown genes that might be involved. If they can couple that with the genes they already know about (HLA DQB 1*0602 and DRB1*1501), there’s a chance they could figure out exactly where things go wrong and prevent it from happening. The Reality Check, though, is that for those of us whose immune systems have already waged war on our hypocretin neurons and clearly won, we’re pretty much out of luck. Yeah, call me Debbie Downer, but until they find a way to repair brain damage (stem cells?), finding a good medication regimen is about the best we can hope for.
There are a few European clinics that have had some success in treating very new cases by giving the patients high doses of antibodies. It doesn't seem to work for everyone, but in some cases, they've actually been able to reverse C. The catch, though, is that none of the effects have persisted for more than a few weeks. It seems our immune systems are just dead-set on getting rid of our hypocretin neurons 🙁 But the limited success that they *have* had makes me hopeful that new treatments will become available in the future that can thwart this awful disease once and for all.
Interestingly, the genetics of Nw/C are very similar to those involved in Type I Diabetes (also an autoimmune disease). And one of the same genes (DQB1*0602) that make us susceptible to developing Nw/C offers very strong protection against developing T1D. Hey, ya win some ya lose some, right? 🙂