Ryan Dhindsa

Interestingly, recessive VSX2 variants are known to cause severe eye disorders (microophthlamia/anopthalmia).

We discovered that heterozygous variation can predispose to adult-onset retinal detachment, expanding the phenotypic spectrum of this gene

My lab at MSKCC in New York is hiring for two positions. Join us at the frontier of functional genomics, studying fibroblast state transitions, combinatorial genetics, and ECM in disease. Please share with anyone who might be a good fit! (Mustache not required.)

These 22 genes could put people at risk of long-term health conditions following common viral infection. Differences in these genes help explain why Epstein-Barr Virus can have lasting health effects in some people but not others.

#GeneticVariation influences how #EBV is controlled, and poorer viral control is linked with several long-term illnesses. @ryandhindsa.bsky.social @bcmhouston.bsky.social @caleblareau.bsky.social @mskcancercenter.bsky.social @astra-zeneca.bsky.social @nature.com blogs.bcm.edu/2026/02/03/f...

This was a fun and rewarding collaboration! A great example of extracting biological signal from data hiding in plain sight

DNA research uncovers 22 genes that could put people at risk of long-term health conditions following common viral infection Baylor College of Medicine researchers are part of a collaborative research group with AstraZeneca and Memorial Sloan Kettering Cancer Center that have...

Baylor College of Medicine @bcmhouston.bsky.social, @astra-zeneca.bsky.social, @mskcancercenter.bsky.social identified genes that increase the risk of developing chronic conditions after #viralInfection. #EBV @nature.com @ryandhindsa.bsky.social #DuncanNRI #TexasChildrens www.bcm.edu/news/dna-res...

Scientists Inch Closer to Solving the ‘Kissing Disease’ Mystery Scientists have identified 22 genes that increase the risk of conditions like lupus, stroke, and rheumatoid arthritis in patients who’ve caught the virus behind mono, an illness known as the “kissing ...

EBV infection is a major detriment to human health. @ryandhindsa.bsky.social, Slavé, and I discussed the impact of this work with @bloomberg.com and some future outlooks

www.bloomberg.com/news/article...

Our latest story is now on bioRxiv. We present PETRA, a new method for deciphering how sequence variants impact gene regulation at scale.

www.biorxiv.org/content/10.1...

This work was led by Magdalena Armas Reyes, a @crick.ac.uk PhD student until very recently. Congrats, Dr. Armas!

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New preprint on technologies to scale up CRISPR screens.

We use them to map 665,856 pairwise genetic perturbations and outline a path to comprehensive interaction mapping in human cells.

We also introduce an approach for cloning lentiviral libraries with billions of elements.

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency ...

Our latest preprint revisits the classic model of mutation-selection balance.

Do human recessive genes fit Haldane's 100-year old model?

This work is by the wonderful @jonj-udd.bsky.social, and co-mentored by @jeffspence.github.io

www.biorxiv.org/content/10.6...

We are thrilled to announce the first official release (v0.1.8) of #𝗯𝗲𝗱𝗱𝗲𝗿, the successor to one of our flagship tool, #𝗯𝗲𝗱𝘁𝗼𝗼𝗹𝘀! Based on ideas we conceived of long ago (!), this was achieved thanks to the dedication of Brent Pedersen.

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plsRT: Looking for a motivated postdoc!
Join us at @bcmhgsc.bsky.social to explore the mosaic & somatic landscape of the human genome: structural variants, methylation, and all things @smahtnetwrk.bsky.social
If you like long reads, complex variants & methylation come talk to me!

🚀 Very excited to share the first major work from my PhD!!

We combined MPRA and CRISPRa in excitatory neurons to test and validate cis-regulation therapies for hundreds of haploinsufficient neurodevelopmental disorder genes. 🧬🔬

www.biorxiv.org/content/10.1...

Varicella-zoster virus reactivation and the risk of dementia - Nature Medicine Large-scale longitudinal health records reveal consistent association of varicella-zoster virus reactivation with dementia.

A new Nature Medicine study analyzing health records from >100 million people in the US offers compelling evidence that reactivation of varicella-zoster virus (VZV) ,the same virus that causes chickenpox and shingles may contribute to dementia risk.
www.nature.com/articles/s41...

Neat trick if you polycolonal ab's suck. Incubate them with fixed cells with a KO of your protein of interest, then spin. Protocol here: www.med.upenn.edu/markslab/ass...
I was amazed how well it worked on first try (I'm sure that I can completely eliminate unspecific bands)
#WesternBlot #cellsky

Ancient viral DNA in the human genome shapes early development Stem-cell models provide evidence that viral DNA sequences that entered the human genome in the past were repurposed to aid early stages of embryonic development.

Stem-cell models provide evidence that viral DNA sequences that entered the human genome in the past were repurposed to aid early stages of embryonic development

go.nature.com/4nRJyA4

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...

Our latest research is out today on ‪@medrxivpreprint.bsky.social:

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

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.

Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

Whole-genome sequencing of 490,640 UK Biobank participants - Nature A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants

go.nature.com/46EtTyW

Excited to share a new preprint from the lab with @ryandhindsa.bsky.social ! www.biorxiv.org/content/10.1...

Led by @sherrynyeo.bsky.social, @erinmayc.bsky.social, and friends, we continue our journey to find viral DNA in our favorite place-- the overlooked and discarded reads in existing data! 1/

Neuron programming! Pro-neural TFs + 480 morphogen conditions + scRNA-seq --> Diverse iN subtypes of forebrain, midbrain, hindbrain, spinal cord, and PNS. @hsiuchuanlin.bsky.social‬ @jasperjanssens.bsky.social‬ and Treutlein Lab! @science.org www.science.org/doi/10.1126/... #NGN2 #ASCL1

Drop by poster B0008 today to learn about genetic risk factors for retinal detachment! We found that variants in VSX2 were associated with an increased risk of retinal detachment in the UK Biobank.

Shout out to my PIs Ben Frankfort and @ryandhindsa.bsky.social!

@arvoinfo.bsky.social #visionscience

Congrats Patricia!

It’s out! The first paper from my postdoc – and first from the @bhadurilab.bsky.social – is now live @natneuro.nature.com . 🧠✨

Using a new meta-atlas generation strategy, we identified functional gene networks that more fully explain how cell types are formed in the human cortex. (1/13)

Excited to share our MPAC preprint, a scalable ensemble of ML models for genome-wide non-coding variant effect prediction and our findings from 575M predictions across databases including @ukbiobank.bsky.social, GTEx, ClinVar, COSMIC, and @gnomad-project.bsky.social
www.biorxiv.org/content/10.1...

🚨 We’re hiring postdocs! Join our lab in Houston to study human disease using stem cell models, functional genomics, and big genomic data. Wet & dry lab backgrounds welcome.

Please email me if you're interested (ryan.dhindsa@bcm.edu) or apply directly: jobs.bcm.edu/job/Postdoct...

📩

Diverse ancestral representation improves genetic intolerance metrics - Nature Communications Here the authors show that expanding global ancestry diversity in genomic datasets improves detection of genomic regions intolerant to variation, identifying areas more likely to harbor disease-causin...

Excited to share our latest study published in @naturecomms.bsky.social! We demonstrate that broad ancestral representation dramatically improves our ability to detect disease-associated regions of the genome. Outstanding work was led by @alexander-han.bsky.social

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

This work was made possible by an incredible collaboration between @bcmhouston.bsky.social, @astrazeneca.bsky.social CGR, and Rice University. Huge kudos to co-first authors Thomas Spargo and Chloe Sands.

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease Spargo et al. analyzed whole-genome sequence data from ∼900,000 individuals and found that protein-truncating variants in ITSN1 confer a ∼10-fold increased risk of Parkinson’s disease. Functional stud...

Our paper describing ITSN1 as a novel risk gene for Parkinson’s disease was published in @cp-cellreports.bsky.social today! We found that rare loss-of-function variants in ITSN1 increase Parkinson's disease risk by 10-fold

www.cell.com/cell-reports...

ITSN1 gene linked to risk of Parkinson’s disease A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a significantly elevated risk of Parkinson’s...

Dr. @ryandhindsa.bsky.social et al linked variants in the gene #ITSN1 to a significantly elevated risk of #ParkinsonsDisease, paving a new way for treatments.
@cellpress.bsky.social @bcmhouston.bsky.social #DuncanNRI @astrazeneca.bsky.social www.bcm.edu/news/itsn1-g...

Safeguarding the future of biomedical science in the United States NIH’s abrupt decision to cap indirect cost reimbursement at 15% threatens the critical infrastructure supporting groundbreaking biomedical research in the United States. This policy jeopardizes America’s global leadership in science and medicine. Urgent…

Now online! Safeguarding the future of biomedical science in the United States

I'm very happy to share our latest work with Seth Berger and the UCI-GREGoR team. Using long-read sequencing, we can detect de novo variants *without* sequencing both parents. We call our method duoNovo.

preprint: www.medrxiv.org/content/10.1...
R package: github.com/sbergercnmc/...
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