SMCI RAMSAY 2018: “Whole genome sequencing and analysis of ME/CFS”, Worthey

Andy

Andy

Retired committee member
Ramsay 2018 award recipient
“Whole genome sequencing and analysis of ME/CFS”

A project summary as written by Dr. Liz Worthey, PhD:

We propose to utilize whole genome sequencing (WGS) combined with cutting edge informatics approaches in patients afflicted with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in order to elucidate the genetic and molecular mechanisms behind the complex presentation and progression of this disease. Despite an increase in research projects over the last several years, the pathophysiology of ME/CFS still remains unknown. We hypothesize that ME/CFS is the result of an intrinsic genetic defect(s) that alters cellular metabolic homeostasis towards an unstable state.
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https://solvecfs.org/ramsay-2018-meet-dr-liz-worthey/
 
I've broken this up for ease of reading. If you want to copy it into your post, @Tom Kindlon, I'll delete mine.

“Whole genome sequencing and analysis of ME/CFS”

A project summary as written by Dr. Liz Worthey, PhD:

We propose to utilize whole genome sequencing (WGS) combined with cutting edge informatics approaches in patients afflicted with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in order to elucidate the genetic and molecular mechanisms behind the complex presentation and progression of this disease.

Despite an increase in research projects over the last several years, the pathophysiology of ME/CFS still remains unknown. We hypothesize that ME/CFS is the result of an intrinsic genetic defect(s) that alters cellular metabolic homeostasis towards an unstable state.

This unstable state is tipped into an irreversible deficiency by an external stimuli such as a viral or bacterial illness or physical or emotional trauma.

We believe that the course of illness is based on the type of variant or where in a metabolic pathway an individual’s defect lies.

This approach has the potential to molecularly define the several subtypes clinically observed in this disease, such as mild, moderate, and severe dysfunction.

We will perform WGS and will analyze the data using various algorithmic approaches, including our custom network analysis algorithms, which support the identification of single nucleotide substitutions and other classes of small variants, structural variants (including more complex types of rearrangements), fusion products, expanded tandem repeats, and variants in regulatory regions that alter expression.

We will be testing the following hypothesis; ME/CFS is caused by a genetic alteration(s) in one or more metabolic pathways that leads to an unstable cellular energetic state.

The course of illness is based on the type of variant or where in a metabolic pathway an individual’s defect lies.​
 
Merged thread

Huntsville, Ala. – HudsonAlpha Faculty Investigator Liz Worthey, PhD, will study the causes of Chronic Fatigue Syndrome with help from a $45,000 pilot grant from the Solve ME/CFS Initiative (SMCI) Ramsay Award Program.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) affects millions of people, and many of them struggle with day-to-day tasks because of the illness, which causes debilitating fatigue, pain, immune, neurologic and sleep problems amongst other symptoms. The Institute of Medicine estimates between 836,000 to 2.5M people in the U.S. are affected by ME/CFS. Most of them are women; 90 percent of them remain undiagnosed.

This next wave of research will be carried out by Worthey and Camille Birch, PhD, from the Worthey Lab, working with Jarred Younger, PhD, at the University of Alabama at Birmingham (UAB) who will provide both patient samples and detailed information on how the disease shows up in those patients. The study will also specifically seek to extract information on how these patients respond to various drugs through pharmacogenomics and will look for molecular variation associated with dietary considerations noted to sometimes be beneficial in this disease.
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full details here:
https://cummingsresearchpark.com/20...-to-study-causes-of-chronic-fatigue-syndrome/
 
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hixxy said:
$45,000 will achieve not much at all. I hope they've got other grants as well.
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It's one of the SMCI grants which are designed to make a start on projects that can then hopefully be expanded with further grants.

I see it's part of the Jarred Younger research effort using patients that he already has well characterised, and doing a specific approach with them, so could potentially provide useful leads for further research.
 
Sounds like they already have a study in mind though i think this is not the best way to go, a disease mechanism rather then the cause would be more useful at this juncture.
However this is research on the cheap, can they actually make real headway with only 45k?

But without details little of what i said might be true.
 
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