Big data - it's all the rage. We're probably not going to get to the source of chronic fatigue syndrome (ME/CFS) without it. This disease (or diseases?) is probably too mysterious for researchers to get a handle on without them gathering massive amounts of data on our genome, epigenome, microbiome, metabolome and whatever other "omes" are out there.
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[/fright]These big data are where the big surprises may lie. Take the Naviaux study. It suggested than infections, inflammation and metabolic syndrome were not problems in ME/CFS. Instead, our systems were in a kind of self-induced lock down.
None of these analyses may provide the answer but all them working together could. A genetic predisposition to "X", an epigenetic trend towards "Y", a microbiome pushing the immune system one way and a metabolome indicating mitochondrial problems are present could end up painting a complete picture of ME/CFS.
Big data acquisition, however, requires big ambitious projects such as the Ron Davis/Open Medicine Foundation project to scour the "omics" of severely ME/CFS patients, or the Lipkin/Hornig microbe project to analyze the microbiome of every possible site on the body
Now comes Dr. Klimas' and her Great ME/CFS Genetics Project" (my title
) to for genetics what Lipkin and Hornig are doing for the microbiome. The Klimas project at Nova Southeastern University aims to analyze the genetic data of 10,000 ME/CFS patients in order capture genetic issues that increase the risk for getting ME/CFS.
Nothing like this has been attempted before and it's not an academic exercise. Identifying the genes at work in ME/CFS could lead to treatments that either block or enhance the activity of those genes, or which manipulate the biological pathways that have been disturbed.
Dr. Klimas just needs your genetic data, and you don't need to go to your doctor to get it. 23andME and Ancestry.com provide the genetic analyses and you provide them to Dr. Klimas's safe, encrypted database. (23andME's is more expensive and provides sex chromosome data and reports. With the exception of the sex chromosome data, ancestry.com provides the same data to Dr. Klimas), Not only will you contribute to helping solve this disease but you'll probably find out some interesting stuff about your genetic heritage.
Neanderthal Man - My 23andME test indicated, for instance, that I have more gene variants left over from our Neanderthal days than 99% of the population. (Didn't see that one coming). I am a carrier for one genetic condition I could pass onto my children but not for 39 other conditions.
My reports suggest I probably prefer salty food (if only they knew), am lactose tolerant (no but my twin is which indicates my lactose problems probably result from my ME/CFS), eating saturated fats probably won't cause me to gain weight), I'm probably not a big coffee drinker (yep), I'm probably not a deep sleeper and I probably move around when I sleep (yes.)
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[/fleft]Of course, information on MTHFR, the COMT genes and other genes that are possibly implicated in ME/CFS are there for the digging. A recent CDC study, for instance, found a bunch of genes variants they believe are associated with ME/CFS. (They need more data to be sure: something perhaps like a big data project...) If you have your genome data you should be able to determine if you have those variants or SNP's (even if there's nothing you can do about them right now.)
Linda Tanenbaum of the Open Medicine Foundation reported that Ron Davis - who is one of the top geneticists in the world - will, in concert with the Open Medicine Foundation, help analyze the data and will collaborate (share data) with the project.
Health Rising plans at some point to publish all the SNP's studies suggest are associated with ME/CFS). (Health Rising is also looking for someone who can walk us through an analysis of a genome (probably mine.)).
Find out more about the project in the interview below with Kelly Gaunt, the person leading the gene data collection effort.
The Blurb For the Study
[fright]
None of these analyses may provide the answer but all them working together could. A genetic predisposition to "X", an epigenetic trend towards "Y", a microbiome pushing the immune system one way and a metabolome indicating mitochondrial problems are present could end up painting a complete picture of ME/CFS.
Big data acquisition, however, requires big ambitious projects such as the Ron Davis/Open Medicine Foundation project to scour the "omics" of severely ME/CFS patients, or the Lipkin/Hornig microbe project to analyze the microbiome of every possible site on the body
Now comes Dr. Klimas' and her Great ME/CFS Genetics Project" (my title
) to for genetics what Lipkin and Hornig are doing for the microbiome. The Klimas project at Nova Southeastern University aims to analyze the genetic data of 10,000 ME/CFS patients in order capture genetic issues that increase the risk for getting ME/CFS.Nothing like this has been attempted before and it's not an academic exercise. Identifying the genes at work in ME/CFS could lead to treatments that either block or enhance the activity of those genes, or which manipulate the biological pathways that have been disturbed.
Dr. Klimas just needs your genetic data, and you don't need to go to your doctor to get it. 23andME and Ancestry.com provide the genetic analyses and you provide them to Dr. Klimas's safe, encrypted database. (23andME's is more expensive and provides sex chromosome data and reports. With the exception of the sex chromosome data, ancestry.com provides the same data to Dr. Klimas), Not only will you contribute to helping solve this disease but you'll probably find out some interesting stuff about your genetic heritage.
Neanderthal Man - My 23andME test indicated, for instance, that I have more gene variants left over from our Neanderthal days than 99% of the population. (Didn't see that one coming). I am a carrier for one genetic condition I could pass onto my children but not for 39 other conditions.
My reports suggest I probably prefer salty food (if only they knew), am lactose tolerant (no but my twin is which indicates my lactose problems probably result from my ME/CFS), eating saturated fats probably won't cause me to gain weight
), I'm probably not a big coffee drinker (yep), I'm probably not a deep sleeper and I probably move around when I sleep (yes.)[fleft]
Linda Tanenbaum of the Open Medicine Foundation reported that Ron Davis - who is one of the top geneticists in the world - will, in concert with the Open Medicine Foundation, help analyze the data and will collaborate (share data) with the project.
Health Rising plans at some point to publish all the SNP's studies suggest are associated with ME/CFS). (Health Rising is also looking for someone who can walk us through an analysis of a genome (probably mine.)).
Know that you're interested in the study? Send an email to MECFSGenes@nova.edu and they'll start you on the process.
The Klimas Gene Study Interview
Find out more about the project in the interview below with Kelly Gaunt, the person leading the gene data collection effort.
What is your background?
[fleft][/fleft]I am currently a third year medical student at Nova Southeastern University that was awarded a research fellowship. Prior to medical school, I worked at the Institute for Neuro Immune Medicine as a Research Associate, where I primarily worked on the CDC Multi-Site Clinical Assessment for Chronic Fatigue Syndrome Study. For undergraduate studies, I attended the University of Florida and graduated cum laude with a Bachelors of Fine Arts.
How did you get interested in this project?
Even though I no longer worked at the INIM while in medical school, I still maintained contact with Dr. Klimas and her incredible staff. Last year when she and I were talking about possible summer projects, this project came about. From the beginning it seemed like such an exciting project. The idea of creating the first ever unique ME/CFS genetic database that is linked to online symptom questionnaires, will open up countless doors for future research discovery revolving around ME/CFS. Therefore, throughout the summer and over the course of the school year, myself and my research partner Kristina Gemayel, created the study IRB and generated the online RedCap platform where participants are able to upload their genetic information. Then, with the incredible support and man power from Nova Southeastern University Institute for Neuro Immune Medicine the project was able to launch.
What will you be doing for the next year with this project?
As a Research Fellow, I am able to fully dedicate this year to further development of this study. Our goal is to have over 10,000 participants, so one of my main priorities is global recruitment through the use of social media. Our thoughts are since ME/CFS affects people worldwide, we want to reach out and recruit the world! I am reaching out to any website or support group that is willing to listen. The beauty of this project is that every step of this project can be performed by the participant, on their computer in the comfort of their home and geographic location or physical ability is not a limitation.
In addition to recruitment, I will be conducting preliminary pilot studies with the data we collect along the way to see if we are able to establish any early noteworthy trends.
How could this project help improve our understanding of ME/CFS?
The intention of this database is to allow investigators the possibility of nearly limitless research opportunities, such as indentifying biomarkers used for establishing diagnoses or correlations between symptom clusters and specific genetic SNPs. Due to the constellation of symptoms that exists among the ME/CFS community, establishing a more definitive diagnosis tool for physicians, will help alleviate the stress and time currently involved. As well as, hopefully lead to sub-grouping symptom categories for effective treatments.
Has anyone done a crowd sourcing gene project before that you know of?
To my knowledge, this is the first database of its kind to include both genetic data and symptom questionnaires of worldwide participant origin who have graciously donated their genomic data. The crowd-sourcing efforts have played a pivotal role in this project. Without the invested efforts and generosity of the ME/CFS community, this project would never had gotten off the ground.
Could this project ultimately help lead to a treatment for ME/CFS?
Absolutely! I have to believe that we will discover insights to the genes that control different pathways of the body, and eventually allow physicians the be ability to tailor effective treatments towards them. Quite a bit of research is involved to reach that point of understanding, but that is ultimately the goal of this study and what we are working so hard to accomplish.
The Blurb For the Study
If you are interested in participating or have any questions, send an email to MECFSGenes@nova.edu
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