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ME/CFS Gene Study
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[[File:GeneDNATest.png|alt=Saliva DNA collection tube with blue preservation fluid in a separate tube.|thumb|Saliva DNA kit for genetic testing]] The '''ME/CFS Gene Study''' or '''ME/CFS Genetic Database 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]].<ref name="recruitment2018">{{Cite web|url=https://sharkmedia.nova.edu/media/ME+CFS+Genes+Study/1_06vh90p0 | title = ME/CFS Genes Study Recruitment Video - SharkMedia|website=sharkmedia.nova.edu|language=en|access-date=2018-11-01}}</ref><ref name="newground">{{Cite news | url=https://www.healthrising.org/blog/2018/08/31/the-great-chronic-fatigue-syndrome-community-gene-breaks-new-ground/ | title = "The Great Chronic Fatigue Syndrome Community Gene Study" Breaks New Ground - Health Rising | last = Johnson | first =Cort | date = 2018-08-31|work=Health Rising|access-date=2018-11-01|archive-url=|archive-date=|url-status=|language=en-GB}}</ref> ==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.<ref name="recruitment2018" /> ==Results== [[File:Genetics ME-CFS-Perez-Klimas-2019.jpg|thumb|'''right|Main pathways showing genetic factors common in ME/CFS'''<br >Source: [https://dx.org/10.3389/fped.2019.00206 Perez et al 2019].<ref name="Nathanson2019" />]] 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 [[MTHFR|methylfolate]] (MTHFR) gene in ME/CFS."<ref name="newground" /> 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.<ref name="Nathanson2019" /> 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 cancer but showing many metabolic processes, signaling and enzymes that are all involved in the regulation of glycogen, sugar and lipid metabolism<ref name="Nathanson2019" /> {{See also|1=Portal:Immune system|2=Immune system |3=Portal:Endocrine system|4=Endocrine system |5=Mitochondrion#dysfunction|6=Mitochondria dysfunction}} The resulting 10 gene found were [[Cytochrome P450 2D6|CYP2D6]], [[Proline-rich transmembrane protein 4|PRRT4]], [[Serine Protease 56|PRSS56]], [[Armadillo Like Helical Domain Containing 4|C14orf37]], [[Ankyrin Repeat And Death Domain Containing 1B|ANKDD1B]], [[G protein-coupled bile acid receptor 1|GPBAR1]], [[Luteinizing hormone subunit beta|LHB]], [[ADAM metallopeptidase with thrombospondin type 1 motif 19|ADAMTS19]], [[Valyl-tRNA synthetase 2, mitochondrial|VARS2]], and [[Complexin 2|CPLX2]].<ref name="Nathanson2019" /> == Notable studies == * 2019, Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study<ref name="Nathanson2019">{{Cite journal | last = Nathanson | first = Lubov | authorlink = Lubov Nathanson | authorlink2 = Travis Craddock | last2 = Craddock | first2 = Travis J.A. | last3 = Klimas | first3 = Nancy G. | authorlink3 = Nancy Klimas | authorlink4 = Kristina Gemayel | last4 = Gemayel | first4 = Kristina | last5 = Del Alamo | first5 = Ana | authorlink5 = Ana Del Alamo | authorlink6 = Kelly Hilton | last6 = Hilton | first6 = Kelly | last7 = Jaundoo | first7 = Rajeev | authorlink7 = Rajeev Jaundoo | last8 = Perez | first8 = Melanie | authorlink8 = Melanie Perez | date = 2019 | title=Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study|url=https://www.frontiersin.org/articles/10.3389/fped.2019.00206/full|journal=Frontiers in Pediatrics|language=English|volume=7|issue=|pages=206|doi=10.3389/fped.2019.00206|issn=2296-2360}}</ref> [https://doi.org/10.3389/fped.2019.00206 (Full text)] ==Criticism== ==Investigators== * [[Irma Rey]] - Principal Investigator<ref name="consent">{{Cite web|url=https://www.nova.edu/nim/informed-consent-form.pdf | title=Consent Form for Participation in the Research Study Entitled ME/CFS Gene Study | last = | first = | date = |website=nova.edu|publisher=Nova Southeastern University|archive-url=|archive-date=|url-status=|access-date=}}</ref> * [[Ana Del Alamo]] - Study Coordinator<ref name="recruitment2018" /> * [[Maria Vera]] - Co-investigator<ref>{{Cite web|url=https://www.nova.edu/nim/clinic/dr-vera-bio-page.html | title = Dr. Maria Vera Bio {{!}} Institute for Neuro Immune Medicine | last = |website=NSU|language=en|access-date=2018-11-01}}</ref> * [[Nancy Klimas]] - Co-investigator<ref name="recruitment2018" /><ref name="consent" /> ==See also== * [[Genetics of chronic fatigue syndrome]] * [[Irma Rey]] * [[Nancy Klimas]] * [[23andMe]] * [[Ancestry DNA]] * [[:Category:Biobanks & patient registries|Biobanks & patient registries]] (category) ==Learn more== * [https://www.nova.edu/nim/research-studies/research-studies-pages/INIM-studies/mecfs-genes.html?_aiid=12167 ME/CFS Gene Study] - Institute for Neuro Immune Medicine * [https://www.healthrising.org/blog/2018/08/31/the-great-chronic-fatigue-syndrome-community-gene-breaks-new-ground/ The Great Chronic Fatigue Syndrome Community Gene Study" Breaks New Ground] - Health Rising ==References== {{Reflist}} [[Category:Notable studies]] [[Category:Research initiatives]] [[Category:American research initiatives]] [[Category:Biobanks_&_patient_registries]]
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