ME/CFS Gene Study

The ME/CFS Gene Study is a crowdsourced study looking for patient genetic data of at least 1,000 patients, with a target of 10,000, from commercially available gene datasets companies or doctor ordered gene studies of any type to be uploaded to the Institute for Neuro Immune Medicine at Nova Southeastern University. This study will help researchers understand which gene mutations can be targeted for therapies for ME/CFS.

Funding
The ME/CFS Gene Study is crowd funded. Those who contribute gene information are not paid. Genes are currently only accepted from commercial testing done by 23andMe or the Ancestry DNA service, which participants must pay for unless they already have the data.

Results
The ME/CFS Gene Study is still recruiting participants. However, early analysis of 450 patient gene datasets revealed "a high prevalence of a heritable defect in the methylfolate (MTHFR) gene in ME/CFS."

The study is expected to run for at least 20 years, and to result in multiple research publications.

Pilot study
The May 2019 pilot study, which used the Fukuda criteria for chronic fatigue syndrome only, looked for the SNPs that were more common in CFS patients than in healthy people, predicted which 50 of these were most likely to be harmful, and reported on the 10 genes found in at least 70% of those with CFS.

Three main clusters of pathways were found to share over 30% of genes common in ME/CFS patients:
 * Immune-related genes: Cytokine Signaling in Immune System pathway; includes other immune-related pathways such as interferon signaling, autoimmune responses, and T-cell receptor signaling
 * Hormone-related genes: Nuclear-Receptors Meta-Pathway including hormone related pathways
 * Metabolism-related genes: Labelled as pathways in canxer but showing many metabolic processes, signaling and enzymes that are all involved in the regulation of glycogen, sugar and lipid metabolism

The resulting 10 gene found were CYP2D6, PRRT4, PRSS56, C14orf37, ANKDD1B, GPBAR1, LHB, ADAMTS19, VARS2, and CPLX2.

Notable studies

 * May 24, 2019 - Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study (Full text)

Investigators

 * Irma Rey - Principal Investigator
 * Ana Del Alamo - Study Coordinator
 * Maria Vera - Co-investigator
 * Nancy Klimas - Co-investigator

Learn more

 * ME/CFS Gene Study - INIM