genetics

  1. Mij

    SARS-CoV-2 spike protein induces TLR4-mediated long-term cognitive dysfunction recapitulating post-COVID syndrome in mice, 2023

    Authors: Fabricia L. Fontes-Dantas et al Highlights Spike protein infusion into mouse brain induces late cognitive dysfunction Spike protein induces late hippocampal microgliosis and synapse loss Blockage of TLR4 renders mice resistant to Spike-induced cognitive dysfunction TLR4-2604G>A GG...
  2. J

    Gene set predictor for post-treatment Lyme disease 2022, Clarke et al.

    https://www.cell.com/cell-reports-medicine/fulltext/S2666-3791(22)00375-5 Highlights • RNA-seq of PBMCs from 152 individuals with post-treatment Lyme disease • Differential expression between acute, post-treatment, and uninfected • Machine learning to identify most relevant genes • 35 genes...
  3. Mij

    Not all roads lead to the immune system: The Genetic Basis of MS Severity Implicates Central Nervous System and Mitochondrial Involvement, 2022, Vili

    Full Title: Not all roads lead to the immune system: The Genetic Basis of Multiple Sclerosis Severity Implicates Central Nervous System and Mitochondria Involvement, 2022, Vilija G. Jokubaitis et al Abstract Multiple sclerosis (MS) is a leading cause of neurological disability in adults...
  4. C

    Review Channelopathies, 2014, June-Bum Kim

    Channelopathies June-Bum Kim Abstract Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with...
  5. cassava7

    Stroke genetics informs drug discovery and risk prediction across ancestries, Mishra et al (GIGASTROKE consortium), 2022

    Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European)...
  6. Sly Saint

    Bioinformatics and systems biology approach to identify the pathogenetic link of Long COVID and ME/CFS, 2022, Lv et al

    Bioinformatics and systems biology approach to identify the pathogenetic link of Long COVID and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Background: The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is a global crisis. Although many people...
  7. Simon M

    Blog: New Study Links 14 Genes to ME/CFS

    New Study Links 14 Genes to ME/CFS A study has analysed existing genetic data in a new way to link 14 genes to ME/CFS and identify many patient subgroups. If the new approach pans out, it could transform ME research and turbocharge the development of treatments. Paper: Genetic Risk Factors for...
  8. cassava7

    Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain…, Howard et al, 2019

    Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions Major depression is a debilitating psychiatric illness that is typically associated with low mood and anhedonia. Depression has a heritable component that...
  9. Andy

    Protocol: DecodeME: community recruitment for a large genetics study of ME/CFS, 2022, Devereux-Cooke et al

    Abstract Background Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest. ME/CFS has no confirmed diagnostic test or effective treatment and we lack...
  10. Andy

    ME Genetics Research Symposium, Edinburgh, 14th September 2022

    ** Early details, more will come closer to the date ** Action for M.E. and the MRC Human Genetics Unit, University of Edinburgh are holding a genetics research symposium on 14th September 2022, at the University of Edinburgh. This will be a hybrid option for those that would prefer/are unable...
  11. Simon M

    "Why do we need a genetic study like DecodeME?" Blog in British Science Week.

    I hope the Mods won't mind me creating a thread for this blog, which looks at why genetic studies are so important. Posted for British Science Week. Decades on, and with over $100m spent on research (it should have been much more), we still don't know for sure any causes of ME/CFS. Genetic...
  12. Sly Saint

    Podcast: Mitochondrial Dysfunction and Autism with Dr. Richard G. Boles

    not listened to it so no idea of content. https://player.fm/series/one-thing-with-dr-adam-rinde/mitochondrial-dysfunction-and-autism-with-dr-richard-g-boles
  13. Andy

    Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders, 2021, Eijsbout

    Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with...
  14. Andy

    BBC Article Oct 2021: Gene silencing medicine transforms crippling pain

    Quote: An innovative type of medicine - called gene silencing - is set to be used on the NHS for people who live in crippling pain. The drug treats acute intermittent porphyria, which runs in families and can leave people unable to work or have a normal life. Clinical trials have shown severe...
  15. Kitty

    UK genetic study on autism

    As people may have heard in the news, a new study launched yesterday called Spectrum10k. I thought I'd post it here in case any of our autistic members had missed it. Headline description Spectrum 10K aims to investigate the genetic and environmental factors that contribute to autism and...
  16. Andy

    Fine mapping of the major histocompatibility complex (MHC) in (ME/CFS) suggests involvement of both HLA class I and class II loci, 2021, Hajdarevic

    Full title: Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci Abstract The etiology of myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is unknown, but...
  17. Andy

    Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm, 2021, Dante et al

    Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have been identified beyond the well-known entity...
  18. Sly Saint

    Identification of differential genetic profiles in severe forms of fibromyalgia and CFS/ME, 2008, Garcia-Fructuoso et al

    Identification of differential genetic profiles in severe forms of fibromyalgia and chronic fatigue syndrome/myalgic encephalomyelitis: A population-based genetic association study Ferran J. Garcia-Fructuoso, Jose Ignacio Lao-Villadoniga, Cristina Santos, Violant Poca-Dias, Joaquim...
  19. V

    Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain, Md Shafiqur Rahman, et al, 2020

    Abstract Background and Objectives Chronic widespread musculoskeletal pain (CWP) is a symptom of fibromyalgia and a complex trait with poorly understood pathogenesis. CWP is heritable (48-54%), but its genetic architecture is unknown and candidate gene studies have produced inconsistent results...
  20. Andy

    Skewing of the B cell receptor repertoire in myalgic encephalomyelitis/chronic fatigue syndrome, 2021, Sato et al

    Highlights • ME/CFS is characterized by skewed B cell receptor gene usage. • Upregulation of specific IGHV genes correlated to infection-related episodes at onset. • Plasmablasts of ME/CFS patients upregulated interferon response genes. • B cell receptor repertoire analysis can provide a useful...
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