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Chris Ponting

@cgatist.bsky.social

3.4K followers 270 following 56 posts

Disease genomics & molecular mechanisms; ME/cfs: http://decodeme.org.uk, SequenceME @ Edinburgh University. Views - my own. He/him.

decodeme.org.uk,

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Chris Ponting @cgatist.bsky.social · Oct 21

A personal viewpoint on #MECFS. This is focused not on #pwME rather on why we - society - forsake them. Please read ⬇️
theconversation.com/ignored-blam...

Ignored, blamed, and sometimes left to die – a leading expert in ME explains the origins of a modern medical ‘scandal’

The co-lead of the world’s largest ever genetic study into ME calls for a radical change in how society deals with the disease.

theconversation.com

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Chris Ponting @cgatist.bsky.social · 17h

These comments, and those of others, are posted here: www.sciencemediacentre.org/expert-react...

expert reaction to study of blood based diagnostic biomarkers for ME/CFS | Science Media Centre

www.sciencemediacentre.org

Reposted by Chris Ponting

Prof Sheena Cruickshank @sheencr.bsky.social · 17h

Early days for this test- interesting results and could be exciting but on a small group size and without other inflammatory conditions I would be cautious about saying it’s a test for ME yet

Scientists develop first ‘accurate blood test’ to detect chronic fatigue syndrome

Research could offer hope for ME patients – but some experts urge caution and say more studies needed

www.theguardian.com

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Chris Ponting @cgatist.bsky.social · 18h

The research used to claim reliability of a ME/CFS blood test has important limitations, shown here.

www.theguardian.com/society/2025...

Three possible confounders in a study proposing an ME/CFS blood test : sex/age, batch and inactivity/severity. Better designed studies by independent researchers are necessary.

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Simon Fisher @profsimonfisher.bsky.social · 4d

Twenty-four years ago today, our paper “A forkhead-domain gene is mutated in a severe speech and language disorder” was published: www.nature.com/articles/350....
A personal thread about the ups & downs of the journey we took to get to that point....1/n
🗣️🧬🧪

Image shows the first two printed pages of the paper “A forkhead-domain gene is mutated in a severe speech and language disorder” by Cecilia Lai and colleagues, published in Nature in 2001 (volume 413, pages 519-523). The abstract reads as follows:
Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7. We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.

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ME/CFS Science @mecfsskeptic.bsky.social · 4d

7) Here’s the link to our article:

DecodeME: the biggest ME/CFS study ever - ME/CFS Science

The first results of DecodeME are in, the largest research project ever undertaken on myalgicContinue readingDecodeME: the biggest ME/CFS study ever

mecfsscience.org

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Reposted by Chris Ponting

Dr van Tilburg @drvantilburg.bsky.social · 6d

The Trump administration has stopped funding of PubMed, not considering a vital service.

Your doctor will not know the newest information that affects your health. This will cost lives.

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Reposted by Chris Ponting

Trish Greenhalgh @trishgreenhalgh.bsky.social · 7d

*Crosses off ‘Fellowship of the Royal Society’ as a life goal*.

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Kit Yates @kityates.bsky.social · 7d

Statement on the Royal Society website is here.
The fact that this is the definitive statement makes me even more convinced that they aren't doing anything to censure Musk.
royalsociety.org/news/2025/10...

A statement from the President of the Royal Society | Royal Society

A statement from Adrian Smith, President of the Royal Society, regarding threats to the values that allow science to flourish.

royalsociety.org

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Reposted by Chris Ponting

Ava Khamseh @avakhamseh.bsky.social · 7d

DNA variants modulate each other’s effects, but finding interactions in population cohorts is hard due to tiny effect sizes + massive testing burden. Using TarGene on 9 nuclear hormone receptor mechanisms we uncovered 535 2-point & 185 3-point interactions, revealing sex-biased genetic risk. (2/n)

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Reposted by Chris Ponting

Ava Khamseh @avakhamseh.bsky.social · 7d

We integrate population genetics, functional genomics & targeted ML to uncover 100s of TF-linked epistatic interactions across 768 traits in UK Biobank. Epistasis, informed by mechanism, empowered by robust stat/ML, is detectable & widespread. doi.org/10.1101/2025... (1/n)

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Chris Ponting @cgatist.bsky.social · 8d

Hi Sarah. Our 2 #MEcfs prevalence estimates of ~400k in the UK are from openresearch.nihr.ac.uk/articles/5-39 & bmcpublichealth.biomedcentral.com/articles/10..... We'd love to do more on this in the future, analysing GP data via CPRD (www.cprd.com) & GPDPR.

NIHR Open Research Article: Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank.

Read the latest article version by Gemma L. Samms, Chris P. Ponting, at NIHR Open Research.

openresearch.nihr.ac.uk

Reposted by Chris Ponting

The Guardian @theguardian.com · 10d

As my daughter got sicker and sicker, our quest for answers dragged on. How did we all miss the bacteria taking over her body?

I write about nature, but when Milly got sick with a mystery illness, it never occurred to me that a long-forgotten tick bite could be the cause

www.theguardian.com

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Reposted by Chris Ponting

Long Covid Scotland @longcovidscot.bsky.social · 12d

While we welcome the Scottish Government announcement of £4.5 million recurrent #LongCovid and #MECFS funding, serious concerns remain. Patients are told money is being allocated, but there is no clarity on how it will be used.

Read the full statement on our website: www.longcovid.scot/blog/res...

Dark blue graphic with text 'Response: ScotGov Funding Announcement' with a man wearing an FFP3 mask

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Ewan Birney @ewanbirney.bsky.social · 15d

Energy transition and UK politics. This is an area where I am definitely an amateur, armchair expert, but interested and can... read a chart etc. Politically I am just a citizen really. Still I think we're going to be entering an interesting phase in the energy transition and UK politics.

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Reposted by Chris Ponting

Adam Phillippy @aphillippy.bsky.social · 16d

Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]

A complete diploid human genome benchmark for personalized genomics

Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...

www.biorxiv.org

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Reposted by Chris Ponting

Gene Doctor Gene @isog.bsky.social · 18d

Animals Sleep Because Electrons Leak
The need for sleep likely evolved to get rid of toxic molecules from the mitochondria, a landmark study shows using sleep-deprived flies.
Written byAndrea Lius, PhD

www.the-scientist.com/animals-slee...

#neuroscience #research #sleep #evolution #education 🧪

Animals Sleep Because Electrons Leak

The need for sleep likely evolved to get rid of toxic molecules from the mitochondria, a landmark study shows using sleep-deprived flies.

www.the-scientist.com

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Reposted by Chris Ponting

Rebecca Sear @rebeccasear.bsky.social · 18d

“The big perspective change from ancient DNA study is that people living today are almost never the descendants of the people in the same place thousands of years before”

news.harvard.edu/gazette/stor...

Pure bloodlines? Ancestral homelands? DNA science says no. — Harvard Gazette

Geneticist explains recent analyses made possible by tech advances show human history to be one of mixing, movement, displacement.

news.harvard.edu

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James Ball @jamesrball.com · 21d

Mini-scoop: After resisting pressure to strip Elon Musk of his fellowship for months, the Royal Society is meeting on 1 October to discuss his removal – following his decision to address Tommy Robinson's far-right rally on Saturday.

www.thenewworld.co.uk/james-ball-r...

Royal Society to debate throwing out Elon Musk

One of the most prestigious scientific bodies in the world is considering expelling Musk after his appearance at Tommy Robinson’s extremist London rally

www.thenewworld.co.uk

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Eric Topol @erictopol.bsky.social · 24d

I've been following the field of biosensors for nearly 2 decades. This may well turn out to be the most important advance yet
erictopol.substack.com/p/biosensors...

Biosensors to Track Proteins and Inflammation in Our Blood in Real Time

A recording from Eric Topol's live video

erictopol.substack.com

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Reposted by Chris Ponting

Institute of Genetics and Cancer @uoe-igc.bsky.social · Sep 3

IGC is looking for a Core Facility Bioinformatician to provide bioinformatics expertise and support to researchers across the Institute, working at the intersection of computational and experimental science. Find out more and apply by 13 October: edin.ac/3R5dEBU
@cmvm-edinburghuni.bsky.social

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Reposted by Chris Ponting

Jeremy Jeffs | photography & documentary @jeremy-jeffs.bsky.social · Sep 3

Had a txt from a contributor asking how I dealt with seeing so much suffer & it's true that sometimes I was v shaken - drove off with camerbag in the gutter once - but mainly I was angry. What other disease affects 400,000 but is virtually invisible? #pwme #mecfs #millionsmissing #invisibleillness

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Reposted by Chris Ponting

Johanna Joyce @johannajoyce.bsky.social · Sep 1

Cells swapping their #mitochondria - this sounded like science fiction 🧪 when the first studies started coming out!

But now this has been observed in #cancer, #yeast, #molluscs, and under normal physiology - as a way to regulate energy demands, metabolism, cell fate & much more - true #powerhouses!

Cells are swapping their mitochondria. What does this mean for our health?

Researchers are studying why the energy factories are moving between cells and whether the process can be harnessed to treat cancer and other diseases.

www.nature.com

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Chris Ponting @cgatist.bsky.social · Sep 1

Seeking a Project Manager for the PRIME project:
"Building Infrastructure for Patients, Researchers and Industry for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)". Closing date for applications is 15 September 2025. #pwME #MEcfs
elxw.fa.em3.oraclecloud.com/hcmUI/Candid...

PRIME Project Manager

The PRIME project is looking for an experienced and dedicated project manager. This role will be crucial to the successful delivery of PRIME, with the post holder responsible for the strategic executi...

elxw.fa.em3.oraclecloud.com

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Chris Ponting @cgatist.bsky.social · Aug 30

At this event I’ll be saying how Patient and Public Involvement and coproduction were critical for success of the @decodemestudy.bsky.social project.

Reposted by Chris Ponting

ME Association @meassociation.org.uk · Aug 29

The ME Association are pleased to announce that we have awarded Decode ME the Howes-Goudsmit Award 2025 for their extensive work and commitment to their genome-wide association study.

Find out more: https://meassociation.org.uk/ir3e

#MECFS #pwME #SevereME #MyalgicE #DecodeME #HowesGoudsmitAward

The ME Association awards Decode ME the Howes Goudsmit Award 2025 - The ME Association

The ME Association are pleased to announce that we have […]

meassociation.org.uk

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