Josep Mercader

🚨 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:

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!

Their shows have a magical alchemy that intrigues but doesn’t trigger nervous systems into overdrive. The kids’ internal worlds are richer for the thoughtful ways the stories explain the how to human.

I encourage everyone to support their local PBS to keep this valuable work free as a public good.

LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes - Nature Metabolism LONP1, whose expression is downregulated in islets from donors with type 2 diabetes, is vital to mediate efficient mitochondrial protein folding, thus preventing proteotoxicity and promoting islet β c...

New proteotoxicity insights as LONP1 promotes β cell survival and prevents hyperglycaemia by facilitating mitochondrial protein folding #diabetes #T2D @soleimanpourlab.bsky.social @naturemetabolism.bsky.social www.nature.com/articles/s42...

Polygenic prediction of body mass index and obesity through the life course and across ancestries - Nature Medicine Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to a...

Here the authors propose that polygenic risk scores PGSs have the potential to improve #obesity prediction, particularly when implemented early in life www.nature.com/articles/s41...

it's wild that R, the ubiquitous statistical computing language, was co-created by a Māori prof (Ross Ihaka) — and yet the vast majority of scientists who use R don't know

this is like inventing the toaster. possibly the largest impact of a single member of an indigenous community on modern science

I've always found @soumya-boston.bsky.social's research to be absolutely fascinating, and I'm excited to bring him on-stage for the next talk in the @broadinstitute.org's Broad Discovery Series. Join us in-person or online on 8/14!

Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations A statistical method, SDPR_admix, was developed to improve the performance of polygenic risk score (PRS) in admixed populations by incorporating information from local ancestry and cross-ancestry gene...

📣Online now!
📄Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations
🧑‍🤝‍🧑 @geyuzhou.bsky.social & colleagues

Our new AJHG paper is online. We develop a new TWAS tool that uses local-ancestry information to improve power of gene mapping in admixed samples. Lead author Taylor Head (now at MD Anderson) did a phenomenal job spearheading this work!

Type 1 diabetes mellitus prevention: present and future - Nature Reviews Endocrinology This Review briefly outlines the pathophysiology of type 1 diabetes mellitus and discusses therapeutic targets that have reached clinical trials, including immunotherapy, and how these treatments migh...

Preventing #T1D www.nature.com/articles/s41... @natrevendo.nature.com

SPC: a SPectral Component approach to address recent population structure in genomic analysis Population structure is a well-known confounder in statistical genetics, particularly in genome-wide association studies (GWAS), where it can lead to inflated test statistics and spurious associations...

📢 Just posted: Our preprint introducing SPC — Spectral Components — is now live on medRxiv!

Led by Dr. Ruhollah Shemirani and years in the making, this method offers a robust, scalable way to adjust for recent population structure in genomic analyses.
🔗 www.medrxiv.org/content/10.1...

1/9

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...

To add to your weekend reading, check out this nice report on the Genes & Health cohort from Hye In Kim, David van Heel and many many more:

www.medrxiv.org/content/10.1...

A microRNA-based dynamic risk score for type 1 diabetes - Nature Medicine A 50 microRNA-based dynamic risk score for stratifying individuals with and without type 1 diabetes was developed using samples obtained from multicenter and multiethnic cohorts.

A study harnessed machine learning/generative artificial intelligence approaches, identifying and validating a miRNA-based DRS for #T1D discrimination and treatment efficacy prediction. @naturemedicine.bsky.social www.nature.com/articles/s41...

Cutting the NIH—The $8 Trillion Health Care Catastrophe This JAMA Forum discusses the recent budget cuts to National Institutes of Health (NIH), the effects of these cuts on scientific research and health of individuals in the US, and the prospects for cha...

"Our calculations suggest that the proposed budgetary cuts to the NIH will create a social cost that is 16 times greater than the savings that the administration is attempting to achieve."
jamanetwork.com/journals/jam...

White House Health Report Included Fake Citations

Will there be a retraction or at least a correction?

www.nytimes.com/2025/05/29/w...

Statement from the American College of Obstetricians and Gynecologists

A chocolate cake with red and white decorations and lit candles shaped as the number 75. Bold text reads: ‘The NSF Turns 75 Today. What has it done over the past 7 decades?’ The background is a celebratory red with a spray-paint texture.

HAPPY 75th, NSF!

We’re celebrating this milestone by highlighting some of NSF’s most transformative accomplishments—innovations that have shaped our world and continue to drive progress in health, technology, the environment, and beyond.

Read on 🧵(1/11):

Great to see Canada joining the nation-wide efforts in utilising Genomics to revolutionize healthcare.

Four images to illustrate some prominent single-gene myths. Top left shows a photograph of a person deftly rolling their tongue into a U-shape. Top right shows a photograph of a person’s ear, highlighting the shape and features of the earlobe and cartilage. Bottom left shows a close-up photograph of a person’s eye, with a vivid blue colouration. Bottom right shows a photograph of a person poised to write with their left hand on the blank white page of a spiral-bound notebook.

Remember when you first learned about genetics at school? All those fascinating examples of human traits that are each apparently determined by just a single gene? Time to check in on some of your favourites to see how they’re doing. 🧬🧵🧪 1/n

American Society of Human Genetics - ASHG

ASHG is concerned about the research cuts in the proposed U.S. FY26 budget, forecasting substantial reductions to the NIH and other agencies. We urge the U.S. Congress to reject this proposal and maintain support for life-saving biomedical research. Read More: www.ashg.org/publications... #ASHG

New NIH Guide Notice about foreign subawards

grants.nih.gov/grants/guide...

Out today in AJHG, this work from my (recently graduated) student Teng Heng on recessive effects in 44k British South Asians from the Genes & Health project @genesandhealth.bsky.social . She found 185 independent hits of which >40% were novel. Worth looking for these in your own cohorts!

From @thelancet.bsky.social www.thelancet.com/journals/lan...

Eugenics is on the rise again: human geneticists must take a stand Scientists must push back against the threat of rising white nationalism and the dangerous and pseudoscientific ideas of eugenics.

I wrote about how we must stand and fight against the threat of eugenics.

Fueled by white nationalism and scientific racism, these beliefs are factually wrong and ethically abhorrent.

This fight includes supporting efforts to diversify our workforce & science. To stop now would be a deep betrayal.

CHAC1 is a kidney disease risk gene, and removal of one copy of Chac1 protects mice from kidney disease by controlling glutathione and ferroptosis @ksusztak.bsky.social
www.science.org/doi/10.1126/...

What is the quickest way to destroy science?
- Discredit and demean expertise.
- Spread misinformation from official sources.
- Aggressively defund research
- Tie funding to ideological stances
- Threaten scientists with retribution and cultivate fear.
- Eliminate diversity of thought and ideas.

Characterization of non-coding variants associated with transcription-factor binding through ATAC-seq-defined footprint QTLs in liver Dudek et al. use chromatin accessibility data in liver from 170 human donors to measure transcription factor binding at genetic variants. They observed 809 variants associated with binding. Given bind...

Our new paper is out today in AJHG! We applied a "footprinting" algorithm to ATAC-seq data from 170 livers to find non-coding variants associated with TF binding. We show that these "footprint QTLs" (#fpQTLs) can fine-map GWAS loci at base-pair resolution.
www.cell.com/ajhg/fulltex...

Characterization of non-coding variants associated with transcription-factor binding through ATAC-seq-defined footprint QTLs in liver Dudek et al. use chromatin accessibility data in liver from 170 human donors to measure transcription factor binding at genetic variants. They observed 809 variants associated with binding. Given bind...

@maxdudek.bsky.social applied a deep learning algorithm to ATAC-seq from 170 livers to measure TF binding at non-coding variants. We show "footprint QTLs" (#fpQTLs) can fine-map causal variants. @ajhgnews.bsky.social @penngenetics.bsky.social @chopresearch.bsky.social
www.cell.com/ajhg/abstrac...

🙏 We need your help 🙏

The government continues to cancel grants at both NIH and NSF to censor science it doesn't like.

We're tracking terminations to organize and advocate. Please report your terminated grants:

NIH:
forms.gle/J2znQ7y7YpeP...

NSF: airtable.com/appGKlSVeXni...

w/ @noamross.net

BREAKING: Last night, the Harvard faculty chapter of the AAUP and the national AAUP filed a lawsuit & TRO to block the Trump administration from illegally demanding that we keep quiet and change how we teach and research at the point of a financial gun.

actionnetwork.org/user_files/u...