https://www.healthrising.org/blog/2...-explored-open-medicine-foundation-symposium/
Major Study Underway
The ME/CFS study underway in his lab is huge – 10 families thoroughly investigated so far with many more to come and 175 non-familial cases of ME/CFS and 150 controls – all incorporated into a major multi-omics (genomics, metabolomics, microbiome, etc.) study (!!!).
The breadth and depth of the Snyder ME/CFS “omics” plus study was a revelation. Besides Fereshteh, Shagahyegh Jahanabnai, Brittany Ann Lee, Kevin Contrepois, Hannes Röst, Damek Vaclav Spacek, Lihua Jiang, Anil Narasimha and Laurel Crosby from Ron Davis’ team, among others, are participating. The goal of this multi-national group is to pinpoint the molecular mechanisms involved in ME/CFS.
The study is not just omics. The group will also be taking blood from some patients (and at about $6K a crack) generating “induced pluripotent stem cells” (iPSCs). The breakthrough in producing stem cells from ordinary cells earned their discoverers a Nobel Prize in 2012. These cells can theoretically be turned into any type of cell (muscle, heart, etc.) in the body. They can then be tested to provide insights into what’s going on in ME/CFS.
Alert! Fereshtah is looking for nine more severely patients in the San Francisco Bay area (within an hour of Stanford) to fill up her intensive study of 20 severely ill patients and their families. Please contact her at fjahania@stanford.edu.
Ron Davis, Fereshtah and her Iranian team. The size of the study Fereshtah is leading was a revelation.
The team is finding evidence of overwhelming activation of the immune system and a counter-veiling anti-inflammatory response that may be reminiscent of what’s happening in autism. Some of the strongest signals suggesing that glycogen storage is affected are showing up as well.
Their genetic data on familial and sporadic cases of ME/CFS shows an enrichment in mutations affecting genes and pathways involved in immune system and metabolism in ME/CFS patients, with some patients having multiple mutations affecting the same gene or pathway (that might explain the severity of the disease and wide range of symptoms).
The data also suggests a potential connection between Ehlers Danlos Syndrome (EDS) and ME/CFS. (Snyder noted the strong symptomatic overlap between EDS and ME/CFS.)
This, of course, isn’t the first time EDS has been mentioned in the same breath as ME/CFS. Alan Pocinki feels EDS is substantially underdiagnosed in ME/CFS, and a recent hypothesis paper puts ME/CFS and EDS in the same spectrum of disorders.