Lightnews — Scholar-powered news

Reposted by Josep Mercader

Tanya Lewis @tanyalewis.bsky.social · 9d

After yrs of disappointment scientists have made a genuine advance in treating Huntington's. The new gene therapy slowed disease progression by 75%. But it's still experimental and will likely be $$, @parshallison.bsky.social reports for @sciam.bsky.social: www.scientificamerican.com/article/firs...

How Scientists Finally Found a Treatment that Slows Huntington’s Disease

After years of heartbreak, researchers have found an experimental treatment that can slow the progression of Huntington’s disease, according to early results from a small clinical trial

www.scientificamerican.com

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Reposted by Josep Mercader

FinnGen @finngen.bsky.social · 16h

We’re getting ready for an exciting week at #ASHG2025 in Boston! Come meet the FinnGen team at booth 147 - we’ll be sharing updates and showcasing new public resources and tools. Plus, don’t miss the various presentations featuring FinnGen results across the program!
www.finngen.fi/en/meet-finn...

Meet FinnGen at the ASHG 2025! | FinnGen

Results based on the FinnGen data are presented in almost 40 talks or posters during the 2025 Annual Meeting of the American Society of Human Genetics (ASHG) in Boston, October 14-18. We also have a b...

www.finngen.fi

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Reposted by Josep Mercader

Pragati Kore @pragskore.bsky.social · 4d

📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).

Improved allele frequencies in gnomAD through local ancestry inference - Nature Communications

This study incorporates local ancestry into the Genome Aggregation Database (gnomAD) to improve allele frequency estimates for admixed populations, enhancing variant interpretation and enabling more accurate and equitable genomic research and clinical care.

www.nature.com

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Reposted by Josep Mercader

GWAS Catalog @gwascatalog.bsky.social · 10d

GWAS finds millions of variants — but what are the Predicted Effector Genes (PEGs)? Our Nature Genetics Perspective rdcu.be/eoqVk showed big inconsistencies.
At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR.
🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A
📌Poster: Oct 16 | 2:30

Realizing the promise of genome-wide association studies for effector gene prediction

Nature Genetics - This Perspective argues that predicting effector genes for complex diseases is a key outcome of genetic association studies where standards are urgently needed to maximize...

rdcu.be

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Reposted by Josep Mercader

medRxivpreprint @medrxivpreprint.bsky.social · 14d

Exome-wide association study in 54,698 south Asians identifies novel type 2 diabetes associations with RNF19A, HNF4A, and dissects role of coding variants in GP2 and CDKAL1 https://www.medrxiv.org/content/10.1101/2025.09.24.25336527v1

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Reposted by Josep Mercader

Sasha Gusev @sashagusevposts.bsky.social · 20d

Massive sibling regression study finds that human traits are largely environmentally driven (average heritability = 0.3)

Within-family heritability estimates for behavioural and disease phenotypes from 500,000 sibling pairs of diverse ancestries

Quantification of the direct effect of genetic variation on human behavioural traits is important for understanding between-individual variation in socio-economic and health outcomes but estimates of ...

www.medrxiv.org

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Reposted by Josep Mercader

Konrad @konradjk.bsky.social · 22d

A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics

Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...

www.nature.com

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Reposted by Josep Mercader

James Russ-Silsby @jamesr-s.bsky.social · 25d

I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.

The minor spliceosome is a master immune regulator

Pathogenic variants in non-coding genes are emerging as critical contributors to human rare diseases. We identified 19 individuals with early-onset diabetes (diagnosed <5 years) and additional clinica...

www.medrxiv.org

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Reposted by Josep Mercader

Haky Im @hakyim.bsky.social · 28d

I'm hiring a computational biologist interested in complex trait genetics using deep learning approaches. Reach out to me, if interested.

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Reposted by Josep Mercader

Elizabeth Atkinson @egatkinson.bsky.social · 28d

Delighted to amplify my talented PhD student’s work! Check it out for a great way to streamline and harmonize Tractor analyses.

nirav-shah.bsky.social @nirav-shah.bsky.social · Sep 8

🚨 New preprint! Traditional GWAS often exclude admixed individuals, missing ancestry-enriched genetic signals. We built Tractor Nextflow Workflow - a modular, scalable pipeline that automates phasing, LAI, and Tractor GWAS, alongside comprehensive documentation.
Preprint: doi.org/10.1101/2025...

Tractor Workflow Pipeline: A Scalable Nextflow Framework for Local Ancestry-Aware Genome-Wide Association Studies

The routine exclusion of admixed individuals from traditional Genome-Wide Association Studies (GWAS) due to concerns about spurious associations has hindered genetic analyses involving multiple ancest...

www.biorxiv.org

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Reposted by Josep Mercader

Mark Lindsay @markelindsay.bsky.social · Sep 4

www.broadinstitute.org/news/mass-ge...

Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions

Developed in collaboration with Broad Clinical Labs and Mass General Brigham Laboratory for Molecular Medicine, the test provides a comprehensive view of a patient’s inherited heart disease risk. div....

www.broadinstitute.org

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Reposted by Josep Mercader

Daniel Drucker @danieljdrucker.bsky.social · Aug 29

Gut hormones suppress bone turnover and resorption. Some new acute studies in #T2D academic.oup.com/jcem/advance...?

The separate and combined effects of GIP, GLP-1 and GLP-2 on markers of bone turnover in type 2 diabetes

AbstractContext. Oral glucose tolerance test (OGTT) induces greater acute suppression of bone resorption than isoglycaemic intravenous glucose infusions (I

academic.oup.com

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Reposted by Josep Mercader

Sasha Gusev @sashagusevposts.bsky.social · Aug 27

I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:

Beneath the surface of the sum

When genetic interactions matter and when they don't

open.substack.com

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Reposted by Josep Mercader

Tuomo Hartonen @tuomohartonen.bsky.social · Aug 27

Are electronic health records (EHR) more predictive of disease onset than polygenic scores? Can we transfer EHR-based prediction models between countries? Our study on these questions using 3 biobank-based studies with N>845K, is out in @natgenet.nature.com today:

www.nature.com/articles/s41...

Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores - Nature Genetics

Comparison of electronic health record-based phenotype risk scores (PheRS) and polygenic scores (PGS) across 13 common diseases and three biobank-based studies indicates that PheRS and PGS may provide...

www.nature.com

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Josep Mercader @josepmercader.bsky.social · Aug 15

We will soon make these PRSs weights publicly available via @pgscatalog.bsky.social‬ to support further evaluation of their clinical utility in diverse ancestries. Thanks to all the participants and cohorts in the Diabetes Polygenic RIsk Scores in Multiple ancestries (#D-PRISM) consortium!

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Josep Mercader @josepmercader.bsky.social · Aug 15

Our PRSs outperform all previously published T2D PRS for any ancestry and can identify 2.5% with ~6-fold increased risk in AMR, EAS and EUR, and >3-fold risk in AFR and SAS, emphasizing the need of more genetic data from AFR and SAS. PRSs are also associated with increased risk of complications.

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Josep Mercader @josepmercader.bsky.social · Aug 15

This global effort gathered data from 360K T2D and 1.8 M controls to develop a multi-ancestry T2D PRS that was validated in at least four cohorts from each of five ancestry groups (European-like (EUR), African/African American (AFR), Admixed American (AMR), South Asian (SAS) and East Asian (EAS)).

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Josep Mercader @josepmercader.bsky.social · Aug 15

Sharing a global effort to develop PRSs for T2D in multiple ancestries. www.medrxiv.org/content/10.1... funded by NHGRI @prsdiversity.bsky.social #D_PRISM
Collab with Maggie Ng, with Tian Ge, Alisa Manning, Marie Loh, Piper Below, Xueling Sim, led by star @aliciahuerta.bsky.social and Joohyun Kim

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries

Background Polygenic risk scores (PRSs) improve type 2 diabetes (T2D) prediction beyond clinical risk factors but perform poorly in non-European populations, where T2D burden is often higher, undermin...

www.medrxiv.org

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Reposted by Josep Mercader

Daniel Drucker @danieljdrucker.bsky.social · Aug 12

A large-scale kidney proteomics study uncovers proteins and targetable mechanisms prioritized for CKM diseases www.nature.com/articles/s41...

The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health - Nature Medicine

Based on 337 human kidney and plasma samples, the authors generate the first kidney pQTL dataset and explore novel risk loci that are relevant for cardio-kidney-metabolic health.

www.nature.com

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Reposted by Josep Mercader

Jacques Murray Leech @jacquesml.bsky.social · Aug 11

New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics

medRxivpreprint @medrxivpreprint.bsky.social · Aug 9

Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1

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medRxivpreprint @medrxivpreprint.bsky.social · Aug 9

Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1

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Reposted by Josep Mercader

Stephen Stone, MD 🔬🧬🐁✏️ @stevestonedraws.bsky.social · Jun 23

At #ADA2025, Josep Mercader discussed how multi-ancestry PRS for T2DM offer better prediction—especially when overlaid with clinical risk factors.
@amdiabetesassn.bsky.social @josepmercader.bsky.social
#ADASciSessions #genomics #PRS #T2D #ancestryinresearch

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Sasha Gusev @sashagusevposts.bsky.social · Aug 10

I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:

What we talk about when we talk about risk

How embryo selection exploits our flawed intuitions about risk

open.substack.com

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Elizabeth Atkinson @egatkinson.bsky.social · Jul 22

🚨 New perspective piece in @ajhgnews.bsky.social! 🚨
We developed a hands-on training resource for large-scale genomic data analysis in the All of Us Researcher Workbench, now published here:

The American Journal of Human Genetics @ajhgnews.bsky.social · Jul 22

📣Online now!
📄Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench
🧑‍💻 @jasminebakerphd.bsky.social @egatkinson.bsky.social & co

Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench

Baker et al. present a cloud-based training program using the All of Us Researcher Workbench to teach large-scale genomic data analysis. Early-career researchers gained hands-on experience in GWASs, q...

www.cell.com

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Reposted by Josep Mercader

Nicholas Mancuso @nmancuso.bsky.social · Jul 21

Super excited to see this out. What started as some math in a grant in 2020, to a student deciding to take this on in 2022, to published in 2025.

These things can take time and patience is key!

Nature Genetics @natgenet.nature.com · Jul 21

📢OUT TODAY @natgenet.nature.com

📰Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.

By @zeyunlu.bsky.social, @nmancuso.bsky.social and colleagues.

⬇️

www.nature.com/articles/s41...

Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk - Nature Genetics

SuShiE is a multiancestry fine-mapping method for molecular quantitative trait loci that leverages linkage disequilibrium heterogeneity to improve resolution, infer cross-ancestry effect size correlat...

www.nature.com

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