Ryan Dhindsa
@ryandhindsa.bsky.social
Assistant Professor at Baylor College of Medicine & Texas Children's Hospital | Human genetics and single-cell genomics | Formerly Columbia Med & Duke
Pinned
Ryan Dhindsa
@ryandhindsa.bsky.social
· Mar 7
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...
www.cell.com
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...
www.cell.com/cell-reports...
Reposted by Ryan Dhindsa
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!
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!
November 10, 2025 at 2:12 PM
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!
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!
Reposted by Ryan Dhindsa
🚀 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...
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...
November 6, 2025 at 11:57 PM
🚀 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...
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...
Reposted by Ryan Dhindsa
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...
www.nature.com/articles/s41...
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.
www.nature.com
October 6, 2025 at 4:46 PM
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...
www.nature.com/articles/s41...
Reposted by Ryan Dhindsa
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
I was amazed how well it worked on first try (I'm sure that I can completely eliminate unspecific bands)
#WesternBlot #cellsky
October 2, 2025 at 5:11 PM
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
I was amazed how well it worked on first try (I'm sure that I can completely eliminate unspecific bands)
#WesternBlot #cellsky
Reposted by Ryan Dhindsa
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
go.nature.com/4nRJyA4
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.
go.nature.com
October 4, 2025 at 10:15 AM
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
go.nature.com/4nRJyA4
Reposted by Ryan Dhindsa
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
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
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 (...
www.medrxiv.org
August 18, 2025 at 7:33 AM
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
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
Reposted by Ryan Dhindsa
Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants
go.nature.com/46EtTyW
go.nature.com/46EtTyW
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.
go.nature.com
August 6, 2025 at 4:07 PM
Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants
go.nature.com/46EtTyW
go.nature.com/46EtTyW
Reposted by Ryan Dhindsa
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/
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/
July 22, 2025 at 9:59 PM
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/
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/
Reposted by Ryan Dhindsa
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
July 11, 2025 at 8:59 PM
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
Reposted by Ryan Dhindsa
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
Shout out to my PIs Ben Frankfort and @ryandhindsa.bsky.social!
@arvoinfo.bsky.social #visionscience
May 7, 2025 at 3:13 PM
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
Shout out to my PIs Ben Frankfort and @ryandhindsa.bsky.social!
@arvoinfo.bsky.social #visionscience
Reposted by Ryan Dhindsa
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)
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)
Parallel meta-analyses of the human cortex in development (seven datasets) and adulthood (16 datasets) generated over 500 gene co-expression networks that can describe mechanisms of cortical development, centering on peak stages of neurogenesis 🧠🧪
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Integrated analysis of molecular atlases unveils modules driving developmental cell subtype specification in the human cortex - Nature Neuroscience
Nano et al. introduce a pipeline to generate meta-atlases of the human brain from existing single-cell datasets and extract gene modules linked to cell fate specification. Perturbing these programs in...
www.nature.com
May 2, 2025 at 12:39 AM
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)
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)
Reposted by Ryan Dhindsa
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...
www.biorxiv.org/content/10.1...
| bioRxiv
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
https://www.biorxiv.org/content/10.1101/2025.04.16.648420v1\
April 23, 2025 at 5:28 PM
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...
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...
📩
Please email me if you're interested (ryan.dhindsa@bcm.edu) or apply directly: jobs.bcm.edu/job/Postdoct...
📩
Postdoctoral Associate- Human Genetics
Postdoctoral Associate- Human Genetics
jobs.bcm.edu
April 9, 2025 at 2:48 PM
🚨 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...
📩
Please email me if you're interested (ryan.dhindsa@bcm.edu) or apply directly: jobs.bcm.edu/job/Postdoct...
📩
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...
www.nature.com/articles/s41...
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...
www.nature.com
March 31, 2025 at 6:58 PM
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...
www.nature.com/articles/s41...
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...
www.cell.com/cell-reports...
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...
www.cell.com
March 7, 2025 at 10:22 PM
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...
www.cell.com/cell-reports...
Reposted by Ryan Dhindsa
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...
@cellpress.bsky.social @bcmhouston.bsky.social #DuncanNRI @astrazeneca.bsky.social www.bcm.edu/news/itsn1-g...
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...
www.bcm.edu
March 7, 2025 at 5:20 PM
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...
@cellpress.bsky.social @bcmhouston.bsky.social #DuncanNRI @astrazeneca.bsky.social www.bcm.edu/news/itsn1-g...
Reposted by Ryan Dhindsa
Now online! Safeguarding the future of biomedical science in the United States
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…
dlvr.it
March 1, 2025 at 1:42 PM
Now online! Safeguarding the future of biomedical science in the United States
Reposted by Ryan Dhindsa
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/...
(1/n)
preprint: www.medrxiv.org/content/10.1...
R package: github.com/sbergercnmc/...
(1/n)
February 27, 2025 at 10:49 PM
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/...
(1/n)
preprint: www.medrxiv.org/content/10.1...
R package: github.com/sbergercnmc/...
(1/n)
Reposted by Ryan Dhindsa
We have 8 days and we need to raise at LEAST $60,000 for a successful #StandUpforScience2025
These funds will go to: the DC rally, covering costs of local rally sites (e.g., insurance!), and setting up @standupforscience.bsky.social for March 8th and beyond! Our work only begins on March 7th!
These funds will go to: the DC rally, covering costs of local rally sites (e.g., insurance!), and setting up @standupforscience.bsky.social for March 8th and beyond! Our work only begins on March 7th!
📣 Want to DONATE to help us Stand Up for Science on March 7th? *NEW LINK!*
Make a tax-deductible donation using the QR code below!
Direct link: www.paypal.com/ncp/payment/...
#scienceforall #sciencenotsilence #standupforscience2025
Make a tax-deductible donation using the QR code below!
Direct link: www.paypal.com/ncp/payment/...
#scienceforall #sciencenotsilence #standupforscience2025
February 27, 2025 at 12:31 PM
We have 8 days and we need to raise at LEAST $60,000 for a successful #StandUpforScience2025
These funds will go to: the DC rally, covering costs of local rally sites (e.g., insurance!), and setting up @standupforscience.bsky.social for March 8th and beyond! Our work only begins on March 7th!
These funds will go to: the DC rally, covering costs of local rally sites (e.g., insurance!), and setting up @standupforscience.bsky.social for March 8th and beyond! Our work only begins on March 7th!
Had a lot of fun teaming up with my younger brother and collaborators @bcmfromthelabs.bsky.social and @astrazeneca.bsky.social on this paper! We trained ML models that predict genes linked to dominant and recessive neurodevelopmental disorders @ajhgnews.bsky.social
www.cell.com/ajhg/abstrac...
www.cell.com/ajhg/abstrac...
Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
Thousands of neurodevelopmental disorder (NDD)-associated genes remain undiscovered,
limiting genetic diagnoses. Here, we employ inheritance-specific machine learning
models, incorporating gene expres...
www.cell.com
February 26, 2025 at 11:00 PM
Had a lot of fun teaming up with my younger brother and collaborators @bcmfromthelabs.bsky.social and @astrazeneca.bsky.social on this paper! We trained ML models that predict genes linked to dominant and recessive neurodevelopmental disorders @ajhgnews.bsky.social
www.cell.com/ajhg/abstrac...
www.cell.com/ajhg/abstrac...
Reposted by Ryan Dhindsa
#AI approach accelerates the identification of #genes contributing to neurodevelopmental conditions such as #autismSpectrumDisorder, #epilepsy & #developmentalDelay. @ryandhindsa.bsky.social awzoghbi et al. #AJHG @bcmhouston.bsky.social @bcmgenetics.bsky.social #DuncanNRI www.bcm.edu/news/ai-acce...
AI accelerates discovery of neurodevelopmental disorder-associated genes
Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental...
www.bcm.edu
February 26, 2025 at 9:10 PM
#AI approach accelerates the identification of #genes contributing to neurodevelopmental conditions such as #autismSpectrumDisorder, #epilepsy & #developmentalDelay. @ryandhindsa.bsky.social awzoghbi et al. #AJHG @bcmhouston.bsky.social @bcmgenetics.bsky.social #DuncanNRI www.bcm.edu/news/ai-acce...
Reposted by Ryan Dhindsa
📣 New from @ryandhindsa.bsky.social & co!
📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
Thousands of neurodevelopmental disorder (NDD)-associated genes remain undiscovered,
limiting genetic diagnoses. Here, we employ inheritance-specific machine learning
models, incorporating gene expres...
www.cell.com
February 26, 2025 at 6:08 PM
📣 New from @ryandhindsa.bsky.social & co!
📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
Excited to share our latest pre-print, in which we show that greater genetic diversity, rather than sample size alone, improving the accuracy of genetic intolerance metrics
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Diverse ancestral representation improves genetic intolerance metrics
Rapidly expanding genomic databases have enabled the identification of regions in the human genome intolerant to variation and thus likely relevant to human disease. However, despite their unprecedent...
www.biorxiv.org
November 13, 2024 at 3:17 PM
Excited to share our latest pre-print, in which we show that greater genetic diversity, rather than sample size alone, improving the accuracy of genetic intolerance metrics
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...