My review of hypertension genetics just published in Pulse: karger.com/pls/article/... Some interesting findings, certainly. But I wonder how "useful" they really are??

Genetic Variants Associated with Hypertension Risk: Progress and Implications

Abstract. Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and lat...

karger.com

New publication reporting attempts to detect effects of recessively acting coding variants on risk of clinically important phenotypes: 🧪🤝🖥️ 🧬 karger.com/hhe/article/...

Investigation of recessive effects of coding variants on common clinical phenotypes in exome-sequenced UK Biobank participants

Abstract. Introduction Previous studies have demonstrated effects of rare coding variants on common, clinically relevant phenotypes although the additive burden of these variants makes only a small co...

karger.com

Word cloud of my publication titles shiny.rcg.sfu.ca/u/rdmorin/sc...

In a focused review, UCL student Lea Heinzer provides a thorough account of the insights into schizophrenia pathogenesis provided by genetic studies identifying genes in which sequence variants can exert a dramatic effect on risk. 🧪🧬🖥️ www.oaepublish.com/articles/jtg...

London's Trafalgar Square packed with supporters of Israel, calling for the release of the hostages held by Hamas.

This raises doubts about the many prior studies using similar data and models to recover in-credible accuracies in very small samples.

In a focused review, UCL student Lea Heinzer provides a thorough account of the insights into schizophrenia pathogenesis provided by genetic studies identifying genes in which sequence variants can exert a dramatic effect on risk. www.oaepublish.com/articles/jtg...

In the heart of Westminster,, Together for Humanity, affirming that Londoners of all faiths will continue to stand together against hatred.

This is nuts! Why did this woman with self-confessed severe cognitive impairment get appointed as a minister? And why on earth did she accept the job? It's no wonder she made such a terrible hash of things. We're still suffering the results of her incompetence. www.bbc.co.uk/news/uk-poli...

Therese Coffey: Brain abscess from stress left me 'close to dying'

The Suffolk MP spent a month in hospital in 2018 and had to rebuild "aspects" of her memory.

bbc.co.uk

Here's me talking about the effects of rare coding variants on risk of type 2 diabetes. Aimed at the non-specialist, it gives an account of the kind of work I've been doing over the last few years. And whether personalised medicine will ever be a thing. faculti.net/analysis-of-... 🧪🧬🖥️

Analysis of rare coding variants reveals novel genetic risk factors for type 2 diabetes | Faculti

David Curtis explores findings from a previous study, utilizing an expanded sample of 470,000 exome-sequenced individuals. The aim was to identify genes linked to type 2 diabetes (T2D) and examine the...

faculti.net

Just published in Pulse - analysis of exome sequence data identifies novel genes affecting risk of hypertension. Variants damaging genes for two different guanylate cyclases increase risk. And variants damaging gene for dopamine beta hydroxylase are protective. karger.com/pls/article/... 🧪🧬🖥️

Analysis of Rare Variants in 470,000 Exome-Sequenced UK Biobank Participants Implicates Novel Genes ...

Abstract. Introduction: A previous study of 200,000 exome-sequenced UK Biobank participants to test for association of rare coding variants with hypertension implicated two genes at exome-wide signifi...

karger.com

New preprint! Assessment of AlphaMissense against dozens of other methods. Overall AlphaMissense has most power to detect association of rare coding variants with common clinical phenotypes. But varies a lot between genes - for some, other methods are much better. www.medrxiv.org/content/10.1... 🧪🧬🖥️

Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disea...

medRxiv - The Preprint Server for Health Sciences

medrxiv.org

“And that, really, is the problem: the lack of due diligence means the rewards for bending or breaking the scientific rules tend to outweigh the incentives to observe them” www.ft.com/content/c886...

There is a scientific fraud epidemic — and we are ignoring the cure

Rooting out manipulation should not depend on dedicated amateurs who take personal legal risks for the greater good

ft.com

Please, please can more people start using Pubpeer - pubpeer.com - to highlight and document problems in the published literature. Future changes will need a body of evidence. "The overarching goal of the Foundation is to improve the quality of scientific research by enabling innovative...."

Interesting to see the debate about routine genome sequencing of newborn babies now happening in America. In a BMJ debate article a couple of years ago, I expressed similar concerns about the proposed program in the UK: newjerseymonitor.com/2023/11/14/c... www.ucl.ac.uk/biosciences/... 🧪🧬🖥️

Civil rights concerns grow over baby blood tests, as state mulls genomic sequencing - New Jersey Mon...

State health officials will consider adding genomic sequencing to the mandatory baby blood testing hospitals do to test for disease.

newjerseymonitor.com

Along with the report that child mortality in the UK has increase by around 10% in a year, this is a real horror story. Around 2/3 of new UK doctors qualified abroad. We're just relying on other (poorer) countries to train our doctors for us. Disgusting parasitism. www.bbc.co.uk/news/health-...

Overseas doctors will remain 'crucial' despite recruitment drive - regulator

The General Medical Council says efforts to recruit more UK doctors will take years to take effect.

bbc.co.uk

Seriously, how does this happen? For socks, I only buy sets of black ones to keep things simple. Now look what's left in my wardrobe. Nine black socks and not one pair.

Materialism is both incoherent and massively counter-intuitive, directly contradicting people's lived experience. So it's hardly surprising that even those who profess to believe it struggle not to make occasional heretical comments. 🧪🤝🖥️ #NeuroSkyEnce #PsychSciSky direct.mit.edu/jocn/article...

“Me & My Brain”: Exposing Neuroscience's Closet Dualism

Abstract. Our intuitive concept of the relations between brain and mind is increasingly challenged by the scientific world view. Yet, although few neuroscientists openly endorse Cartesian dualism, car...

direct.mit.edu

Sigh. Another paper which fails to cite my incredibly relevant contribution to the field which undermines the main conclusion of the new paper. Oh well. Worth a comment on PubPeer, I should think. 🧪🖥️🧬 pubpeer.com/publications...

We're in the twenty-first century. Why on earth have we got a "king"?

Depressing that these papers from 10 and 20 years ago seem more salient today than ever - why is so much terrible science still funded and published? www.nature.com/articles/nrn... www.bmj.com/content/308/...

The scandal of poor medical research

We need less research, better research, and research done for the right reasons What should we think about a doctor who uses the wrong treatment, either wilfully or through ignorance, or who uses the...

bmj.com

I don't know if Emily Maitlin has had her account on X hacked, but either way this is a striking video: x.com/maitlis/stat...

I would hope that one thing we could all agree on is that a desirable outcome is that Hamas is swiftly defeated. Good for Israelis, good for Palestinians. Any objectors?

A journal editor has emailed to say they've invited ** 180 ** reviewers to review our (invited) submission. Of whom just 5 agreed. Of whom just 1 has actually provided a review. 🧪🧬🖥️

Libérez nos otages.

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms https://www.biorxiv.org/content/10.1101/2023.10.24.562294v1

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms https://www.biorxiv.org/content/10.1101/2023.10.24.562294v1

Missense variants that alter a single amino acid in the encoded protein contribute to many human dis

biorxiv.org

Nice to see that both the Guardian and the Telegraph have published my sceptical comments about the study predicting a huge increase in dementia cases by 2040. Linear extrapolation from a wiggly line is not a thing. www.theguardian.com/society/2023... www.telegraph.co.uk/news/2023/10...

Dementia could affect 1.7m people in England and Wales by 2040, data finds

Figure is 42% higher than previous estimates and would pose ‘enormous threat’ to healthcare systems

theguardian.com

Multiple genes in a single GWAS risk locus synergistically mediate aberrant synaptic development and function in human neurons www.sciencedirect.com/science/arti... #gwas #epistasis #schizophrenia

Multiple genes in a single GWAS risk locus synergistically mediate aberrant synaptic development and...

The mechanistic tie between genome-wide association study (GWAS)-implicated risk variants and disease-relevant cellular phenotypes remains largely unk…

sciencedirect.com

The fact that Eisen lied about why he was sacked by eLife makes me think that the decision to sack him was probably correct.

Why aren't people getting this? Hamas, which governs Gaza, has stockpiles of fuel which it uses, among other things, to support its tunnel system. But if a hospital in Gaza runs low on fuel this is somehow Israel's fault?