>My plan is to post on topics from the conference throughout the next few days. I need to do this in small chunks or I will never get it done. Please feel free to use the comments section of each post as a place to ask questions. I feel like I learned something in every session that I attended. Part of the reason the weekend overwhelmed me is that information kept buzzing around my brain. All week, I have been trying to remain mindful of each moment, but the thoughts and insights of the conference continue to bombard me. Hopefully, getting some of them out of my head (and into electrons) will allow me to function a bit better at work and around my house.
The most incredible scientific/medical moment of the weekend was the keynote address. I figured listening to Dr. Emmanuel Mignot would be a powerful experience (he is one of the two leading researchers of narcolepsy in the world. The other is Dr. Masashi Yanagisawa at the University of Texas Southwestern Medical Center). Dr. Mignot heads up the Center for Narcolepsy at Standford. He is once again on the verge of a major break through. Here are the basics from his talk:
1. They are using the Human Genome work and Affymetrix 6.0 Array Set: Genome Wide Association to look for other common variants within the genomes of people with narcolepsy with cataplexy. The Array allows blood samples to be tested against 906,600 Single Nucleotide Polymorphisms and 946,000 Copy Number Variations. Thus, with massive sample groups, a research can find common variants within common disease groups. This same testing is being used for a number of other common diseases (including many autoimmune diseases) like Celiac’s Disease and Irritable Bowel Syndrome. Basically, the researcher wants to find a high p-value.
2. The paper published by Japanese scientists and Dr. Mignot at the end of September found a couple of genes in a study in Japan that had a smaller population sample (222 PWNs w/ C vs. 389 Control subjects). The two genes involved in the common variant both have roles in the sleep cycle. The study was repeated using a Korean group, a Caucasian group and an African-American group. The correlation was present in the Korean group, but not the other two. So that variant is likely only in Asian populations.
3. Dr. Mignot did a much larger study in the U.S. He tested 809 PWNs w/ cataplexy against 1120 Controls (all who had HLA-DQB1*0602 – this is the autoimmune factor that is definitely involved in causing narcolepsy). While Dr. Mignot did not tell us the name of the gene that they found, he did say that they found one. He also said that the protein that it controls is a part of the immune system and works with HLA like a hand and glove relationship. Needless to say, he is extremely excited about this. The p-value was 10 to the 12th power (which is insanely high). He still must replicate the results before he can publish, but he believes that this is a major discovery. While he still needs blood from 400 more PWNs w/ cataplexy in the U.S. to finish the replication, he is also doing a study in Japan with 800 PWNs and 800 Controls.
4. Finally, he has had the chance to work with five PWNs within a few months of symptom onset. As a result, he has done a western blot on them from their liver and found the same triplet of results. The five also all had recent viral infections and corresponding anti-infection antibodies. There needs to be far more research done, but he believes that Immunologists could devise a way to interrupt the disease process/autoimmune response that leads to narcolepsy.
The only part that is hard in all of this is that it is focused on Narcolepsy with Cataplexy. I might have abnormal or rare cataplexy, but am not sure. Even if I do, I am grouped in the same catagory of Narcolepsy without Cataplexy. As a result of that, my version of this disease might be highly different than what Dr. Mignot has discovered. I hope not. He certainly believes that figuring out Narcolepsy with Cataplexy will provide insights into the full spectrum of Narcolepsy. Nonetheless, it is unnerving to think that what I have is MORE complex than what his YEARS of research have uncovered. Still, it is exciting. The part that gives me the most hope is the clear link to some type of infectious agent having a role as a potential trigger. Even the remote possibility that this condition might be connected to my four bouts of Mono and/or my chronic toncillitis and/or my chronic sinusitis is thrilling.
Here is a link to a published Google Doc of my notes – http://docs.google.com/Doc?id=d6qf3b7_613mp98wg8. Folks should feel free to check them out. The talk was amazing. Perhaps the funniest thing is that Dr. Mignot completely seems like the absent minded, but brilliant, professor type. His clothes were fairly rumpled and a friend of mine told me that he reminds her of Dr. Oliver Sacks (whose life story was made into the movie Awakenings – Robin Williams plays the Sacks character, Dr. Sayer). Dr. Sacks is also brilliant, but can’t seem to button his own clothes correctly. I always find it refreshing when “ordinary” (or even odd-looking) people prove to be extraordinary. Dr. Mignot certainly fits the bill!