ME/CFS first disease to be profiled with new genetic technique (800 patients)
The second project, another OMI/SGTC collaboration and supported by OMF via Edward P. Evans Foundation, pitted a new technology for in-depth immune gene sequencing of the HLA region of the genome. This new methodology (developed at the SGTC) provides greater DNA sequence detail than ever before around these hyper-variable regions of the genome that are typically not included in “whole genome” sequencing due to their variability. [a few sections of the human genome are regularly excluded because, for technical reasons related to the nucleotide sequences, they are very hard to sequence.]
Approximately 800 ME/CFS patients were the first of any disease to be studied using this technology. The initial results of this pilot are promising and we are awaiting 10,000 control patients to be completed to provide a strong comparative reference for this analysis. The project data is being prepped for publication.
My quick intro to immune HLA genes (aka MHC genes)
Epigenetics study
The third DNA based project revolved around epi-genetics or the external factors influencing our genes to turn-on or off. Another OMF/EPE supported effort, in the late fall we completed a pilot project looking at methylation patterns of DNA in ME/CFS of several hundred patients with successful results that we are now trying to replicate in a larger study.
This contrasts with the fascinating but tiny McGowan epigenetics study (n=12), though Solve ME/CFS initiative have secured $500k funding for a bigger study (n=300)..
[in case you are wondering, the first DNA project is whole genome sequencing of 7 patients]#
'Omics core project [comprehensive long-term monitoring of small group of patients]
OMF via private community support as well as industry support launched our genomics core into high-gear this year. A state-of-the-art set of equipment for gene expression measurement (the activity of 70,000 genes at a particular time point) was acquired and put into operation at OMI. ..., this part of the OMI Omics Core is aimed at shedding new light on what goes up and down as patients progress through their disease (and treatment) courses. Ongoing projects in the Core include baseline, severity surveys, treatment progression, and exercise and other stress testing. We are hoping that several papers will be published from this work in 2015 including an in-depth dive on a small cohort of patients.
Massive cognitive testing study
In terms of documenting the functional impact of ME/CFS, our cognitive survey is gearing up. Through OpenMedNet and with the generous support of Brain Resources Inc, we plan to measure 3-4,000 ME/CFS patients with a variety of on-line cognitive instruments and their progress over time and with various stressors. This is a key study for objectively quantifying patient disability and potentially framing treatment strategies more effectively. Enrollment is expected to begin by late March 2015.
The second project, another OMI/SGTC collaboration and supported by OMF via Edward P. Evans Foundation, pitted a new technology for in-depth immune gene sequencing of the HLA region of the genome. This new methodology (developed at the SGTC) provides greater DNA sequence detail than ever before around these hyper-variable regions of the genome that are typically not included in “whole genome” sequencing due to their variability. [a few sections of the human genome are regularly excluded because, for technical reasons related to the nucleotide sequences, they are very hard to sequence.]
Approximately 800 ME/CFS patients were the first of any disease to be studied using this technology. The initial results of this pilot are promising and we are awaiting 10,000 control patients to be completed to provide a strong comparative reference for this analysis. The project data is being prepped for publication.
My quick intro to immune HLA genes (aka MHC genes)
Epigenetics study
The third DNA based project revolved around epi-genetics or the external factors influencing our genes to turn-on or off. Another OMF/EPE supported effort, in the late fall we completed a pilot project looking at methylation patterns of DNA in ME/CFS of several hundred patients with successful results that we are now trying to replicate in a larger study.
This contrasts with the fascinating but tiny McGowan epigenetics study (n=12), though Solve ME/CFS initiative have secured $500k funding for a bigger study (n=300)..
[in case you are wondering, the first DNA project is whole genome sequencing of 7 patients]#
'Omics core project [comprehensive long-term monitoring of small group of patients]
OMF via private community support as well as industry support launched our genomics core into high-gear this year. A state-of-the-art set of equipment for gene expression measurement (the activity of 70,000 genes at a particular time point) was acquired and put into operation at OMI. ..., this part of the OMI Omics Core is aimed at shedding new light on what goes up and down as patients progress through their disease (and treatment) courses. Ongoing projects in the Core include baseline, severity surveys, treatment progression, and exercise and other stress testing. We are hoping that several papers will be published from this work in 2015 including an in-depth dive on a small cohort of patients.
Massive cognitive testing study
In terms of documenting the functional impact of ME/CFS, our cognitive survey is gearing up. Through OpenMedNet and with the generous support of Brain Resources Inc, we plan to measure 3-4,000 ME/CFS patients with a variety of on-line cognitive instruments and their progress over time and with various stressors. This is a key study for objectively quantifying patient disability and potentially framing treatment strategies more effectively. Enrollment is expected to begin by late March 2015.