genetic

This thesis describes two investigations into the disease Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), specifically its genetic aetiology and immune system alterations. The first study investigated the genetic basis of ME/CFS using Genome-wide Association Studies (GWAS) by...

published paper posted on this thread here Preprint Abstract Background: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating chronic disease that lacks known pathogenesis, distinctive diagnostic criteria, and effective treatment options. Understanding the genetic...

Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic imbalance and clinical disease. However, reality has never been quite that simple, and the classic...

Full title: No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) Abstract Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disease with a variety of...

Abstract Background: Myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) is a disabling multi-system complex disorder with prevalence of 875 per 100,000 (up to 3.4 million people) in the United States. There are no known etiologic or risk factors and no approved treatments for ME/CFS...

Clarifying the causes of consistent and inconsistent findings in genetics Saloni Dattani, David M. Howard, Cathryn M. Lewis, Pak C. Sham Abstract As research in genetics has advanced, some findings have been unexpected or shown to be inconsistent between studies or datasets. The reasons these...

Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a multisystem disease, the pathogenesis of which remains undetermined. We set out to determine the precise abnormalities of gene expression in the blood of patients with CFS/ME. We analyzed gene expression in peripheral blood from 25...

Largest ME/CFS genetic study to date. Three different cohorts totaling more than 2500 patients. First Immunochip study in ME/CFS. Possible implication of TPPP genetic region https://www.sciencedirect.com/science/article/pii/S0889159122000782 TPPP plays a key role in myelination of nerve cells...

Not ME related but stuttering has been associated with anxiety. Apparently they think they have found underlying biology and are working on a drug treatment. Lucky stutterers (well maybe). Here's the research abstract (2021): https://pubmed.ncbi.nlm.nih.gov/34859215/ Here's a Canadian...

Diagnostic approach in adult-onset neurometabolic diseases Gorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, Foudil Lamari, Benoit Rucheton, Natalia Shor, Yann Nadjar Abstract Neurometabolic diseases are a group of individually rare but numerous and heterogeneous genetic...