genetics

Hi everyone, I’m a a male in my 30s with ME/CFS (diagnosed in 2012 using ICC criteria), now mostly housebound with severe post-exertional malaise (PEM), disabling muscle pain and cramps (especially in the thighs), and profound fatigue. After years of inconclusive testing, I recently did whole...

Abstract: Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been...

The UK Biobank resource with deep phenotyping and genomic data Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T. Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O’Connell, Adrian Cortes, Samantha Welsh, Alan Young, Mark Effingham, Gil McVean...

I’ve recently found the NHS Genomics Education programme website, which includes a lot of resources, but the Bitesize genomics videos such as ‘What is genomics?’ and ‘What is Bioinformatics?’ are good accessible introductions. https://www.genomicseducation.hee.nhs.uk/education/...

Dissecting the genetic complexity of myalgic encephalomyelitis/chronic fatigue syndrome via deep learning-powered genome analysis Sai Zhang; Fereshteh Jahanbani; Varuna Chander; Martin Kjellberg; Menghui Liu; Katherine Glass; David Iu; Faraz Ahmed; Han Li; Rajan Douglas Maynard; Tristan Chou...

Paper from 2016 by the Hanson group. I wanted to post it here because it had a large sample size (large for ME/CFS research, probably small for genetics research). Abstract Background: Mitochondrial dysfunction has been hypothesized to occur in Myalgic Encephalomyelitis/Chronic Fatigue...

Preprint posted on MedRxiv, now posted with new title on SSRN, see post #4 Integrative Genome-Wide Association Studies of COVID-19 Susceptibility and Hospitalization Reveal Risk Loci for Long COVID Zhongshan Cheng Abstract Long COVID presents a significant public health challenge...

A Machine-Learning Approach to Finding Gene Target Treatment Options for Long COVID Alejandro Lopez-Rincon [Line break added] Abstract Long COVID, also known as post-acute sequelae of SARS-CoV-2 infection (PASC), encompasses a range of symptoms persisting for weeks or months after the acute...

Integrative Multi-Omics Framework for Causal Gene Discovery in Long COVID Thuc Duy Le, Sindy Licette Pinero, Xiaomei Li, Lin Liu, Jiuyong Li, Sang Hong Lee, Marnie Winter, Thin Nguyen, Junpeng Zhang Background Long COVID, or Post–Acute Sequelae of COVID–19 (PASC), involves persistent...

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition Vollger, Mitchell R.; Korlach, Jonas; Eldred, Kiara C.; Swanson, Elliott; Underwood, Jason G.; Bohaczuk, Stephanie C.; Mao, Yizi; Cheng, Yong-Han H.; Ranchalis, Jane; Blue, Elizabeth E...

TLS Gene-eyed The ‘secret of life’ isn’t reducible to DNA Review by Johnjoe McFadden HOW LIFE WORKS A user’s guide to the new biology PHILIP BALL 560pp. Picador. £22. PHILIP BALL’S NEW BOOK opens on June 26, 2000, the day President Bill Clinton announced the completion of the first-draft...

Why are diseases more common in some parts of Europe than others, and why are northern Europeans taller than their southern counterparts? An international team of scientists say they have unearthed the answer in the DNA of ancient teeth and bones. The genes which protected our ancestors from...

Are mothers with ME more likely to have children with ME than fathers with ME are? I've always wondered about this, partly because it is true in my own family, and have seen others suggest it might be true (most recently Fereshteh Jahaniani in the NIH genetics webinar), but I can't seem to find...

Observer investigation reveals UK Biobank opened its biomedical database to insurance firms despite pledge it would not do so Sensitive health information donated for medical research by half a million UK citizens has been shared with insurance companies despite a pledge that it would not be...

Genes may be responsible for one complex regional pain case in 3 say researchers. https://www.physioupdate.co.uk/news/genes-may-be-responsible-for-one-complex-regional-pain-syndrome-case-in-three-say-researchers/ there is a link at the bottom of this article to the journal paper...

A thread on the announcement of funding for the study has been merged with the announcement of the study I haven't searched for more details on this yet. Sanofi are a pharmaceutical company. https://www.bristol.ac.uk/academic-child-health/grants/

Abstract Purpose Orthostatic hypotension is a common condition with heterogeneous and, in many cases, unclear underlying pathophysiology. Frequent symptoms are syncope and falls with a strong impact on daily life. A two-generation family with eight individuals segregating early-onset severe...

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...