Kelly has my genome sequence

Kelly Gaunt, along with her research partner Kristina Gemayel are the real people behind what has come to be called the Nancy Klimas ME/CFS Gene Study which is a huge exercise in data collection enabling people to contribute their own genetic information on a voluntary basis. Genomics is a popular place to be in medicine so that getting people on board if any interesting patterns emerge, should not be problem for further detailed research.  With metabolomics, genomics and microbiomics at the forefront of modern-day research, at least these kinds of studies are attracting attention.  We need attention!!  Crowd-sourcing for genetic data is a brand new concept too and there were only a few little teething problems with this "RedCap" Platform that the girls set up so they deserve congratulations I do not know how much the girls will be involved with data analysis if at all but like the data collection much will be automated. Let's hear from Kelly.

Kelly describes her role in the project as follows: 

What is your background? 

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 identifying 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. Read More

Kelly told #MEAction that they intended to subgroup the patient population by symptom commonalities and investigate any correlating gene mutations. They also hope to discover biomarkers to help assist in diagnosing ME.

My data was provided to them in the form of a zip file that 23andme provided.  23andme charged me for the service and I gave a copy of the results to Kelly and Kristina under the oversight of Nancy Klimas.  The initial contact for me was with a Facebook group that was formed well before data collection began.  The group itself is virtually inactive now because most people have uploaded their files and filled in their online questionnaire after an initial screening to identify suitable patients.

I have not yet received any further requests for information about my illness nor have I received any updates on the progress of the study as a participant.  I did not expect to be kept informed except by way of more general updates from the ME/CFS community itself (the grapevine) and the subsequent publishing of research papers when the study completes.  However, this study is still recruiting for participants until they find 10,000 volunteers so it may be a long wait for results.  They are also now looking for healthy (non ME/CFS) controls and my sister comes to mind.  Hint, hint.  Let me recruit you to 23andme if you do Zena under their referral plan.

Kristine Gemayel, like Kelly was awarded the position at the Institute for Neuro-Immune Medicine at Nova Southeastern University as a winner of the Blue Ribbon Foundations' student fellowship awards which places them in leading ME/CFS research facilities as assistants.  You may remember the Blue Ribbon Foundation as the not-for-profit group that funded the documentary "Forgotten Plague"

When Cort Johnson (of Health Rising) was discussing this study he made a comment about his results with reference to neanderthal genetic material.  It was the first thing that hit me in the face too when I got my 23andme results.  The report you receive includes the percentile rank of neanderthal DNA that you have compared to all other 23andme users.  His was 99 and mine was 85 because apparently 2.9% of my DNA being Neanderthal is a pretty high amount. Comments from others with high percentages of Neanderthal DNA trivially appeared to suggest that there was a high prevalence in the ME/CFS population and so my mind raced ahead.  And if being able to go into a state of dauer is a protection mechanism then perhaps we are calling on ancient genes to do so especially if you like to see ME/CFS as providing some sort of evolutionary advantage for the future as some of us would like to think. The mutations that enabled the generations to survive what comes....that sort of thing.  Probably wishful thinking. Survival isn't everything though and Neanderthal DNA is really only a "smidgen" of our total DNA variants according to 23andme information. 

If you would like to be involved in the MECFS gene study then please email here.  Just be warned that the girls may have already finished their part in the project.

There are many more people involved in other aspects of it.  Nancy Klimas is front and central and one to the right.  It is a big team.