genetics

Abstract Background Long COVID is a debilitating chronic condition that has affected over 100 million people globally. It is characterized by a diverse array of symptoms, including fatigue, cognitive dysfunction and respiratory problems. Studies have so far largely failed to identify genetic...

Interesting video with lots of overlap with us, although some of it is the exact opposite. I have been noticing that, generally speaking, things are just as dysfunctional in autism research in terms of conflict between perception and reality. It's the exact same story of not listening to...

Abstract Objective Orthostatic intolerance is typically thought to be sporadic and attributed to cerebral autonomic dysfunction; we sought to identify families with inherited autonomic dysfunction manifest as symptomatic orthostatic intolerance to characterize mode of inheritance and clinical...

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...

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...

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...

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...

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)...

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...

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...

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...

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...

** 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...

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...

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

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...

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...

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...

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...

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...