Discussion in 'BioMedical ME/CFS Research' started by Andy, Oct 10, 2018.
Ramsay 2018 award recipient
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.
Wasn't this what MEGA was going to be doing? Won't they need a shedload of patients?
Article from WAAY-TV
HudsonAlpha Scientist Receives $45,000 Grant To Study Causes Of Chronic Fatigue Syndrome
Worthey said her team will be partnering with a team at the University of Alabama at Birmingham. She plans to start genetic analysis of patients in a matter of weeks.
full details here:
$45,000 will achieve not much at all. I hope they've got other grants as well.
Small studies can lead to big NIH grants.
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.
I noticed in the latest newsletter of the Solve ME/CFS Initiative it says:
It's nice to see people with the illness researching it.
Webinar from these researchers, https://www.s4me.info/threads/solve...enome-sequencing-and-analysis-of-me-cfs.9324/
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