Raheleh Rahbari
@r-rahbari.bsky.social
Group Leader @Wellcome Sanger Institute. @CRUK fellow | Interested in mutations acquired during aging and their impact across generation.
Reposted by Raheleh Rahbari
NEWS: Study reveals how drug resistance develops early in targeted AML therapy
A new study led by researchers at @rdm.ox.ac.uk has shown that resistance to a targeted treatment for acute myeloid leukaemia (AML) can develop much earlier than expected.
A new study led by researchers at @rdm.ox.ac.uk has shown that resistance to a targeted treatment for acute myeloid leukaemia (AML) can develop much earlier than expected.
Study reveals how drug resistance develops early in targeted AML therapy
A new study led by researchers at the MRC Molecular Haematology Unit has shown that resistance to a targeted treatment for acute myeloid leukaemia (AML) can develop much earlier than expected.
www.medsci.ox.ac.uk
November 21, 2025 at 1:00 PM
NEWS: Study reveals how drug resistance develops early in targeted AML therapy
A new study led by researchers at @rdm.ox.ac.uk has shown that resistance to a targeted treatment for acute myeloid leukaemia (AML) can develop much earlier than expected.
A new study led by researchers at @rdm.ox.ac.uk has shown that resistance to a targeted treatment for acute myeloid leukaemia (AML) can develop much earlier than expected.
Reposted by Raheleh Rahbari
Honored to be recognized by @usnews.com as a 2025 #BestLeader alongside so many incredible colleagues and individuals I admire!
www.usnews.com/news/best-le...
www.usnews.com/news/best-le...
November 17, 2025 at 2:09 PM
Honored to be recognized by @usnews.com as a 2025 #BestLeader alongside so many incredible colleagues and individuals I admire!
www.usnews.com/news/best-le...
www.usnews.com/news/best-le...
Reposted by Raheleh Rahbari
@kevinmonahan.bsky.social & I have an open clinical #PhD position between @stmarkshospital.bsky.social and @icr.ac.uk If you're interested in the biology of pre-cancer in the bowel & want to translate biology for cancer prevention this one could be for you... funded by the brilliant #40tude
We are looking for our new Tom Smith Clinical Research Fellow in #LynchSyndrome and Early Onset ColorectalCancer with @trevorgraham.bsky.social in translational science … thanks to 40tude curing colon cancer for supporting this fellowship - get in touch! @stmarksgenomics.bsky.social @icr.ac.uk
November 17, 2025 at 2:53 PM
@kevinmonahan.bsky.social & I have an open clinical #PhD position between @stmarkshospital.bsky.social and @icr.ac.uk If you're interested in the biology of pre-cancer in the bowel & want to translate biology for cancer prevention this one could be for you... funded by the brilliant #40tude
Reposted by Raheleh Rahbari
Big, beautiful trees!!
SMART-PTA for whole-genome+transcriptome on thousand of single cells from the normal human esophagus 🤯 Massively scaling up the power of scWGS to build deep phylogenies and chart somatic evolution from birth throughout life.
www.biorxiv.org/content/10.1...
SMART-PTA for whole-genome+transcriptome on thousand of single cells from the normal human esophagus 🤯 Massively scaling up the power of scWGS to build deep phylogenies and chart somatic evolution from birth throughout life.
www.biorxiv.org/content/10.1...
October 14, 2025 at 2:37 PM
Big, beautiful trees!!
SMART-PTA for whole-genome+transcriptome on thousand of single cells from the normal human esophagus 🤯 Massively scaling up the power of scWGS to build deep phylogenies and chart somatic evolution from birth throughout life.
www.biorxiv.org/content/10.1...
SMART-PTA for whole-genome+transcriptome on thousand of single cells from the normal human esophagus 🤯 Massively scaling up the power of scWGS to build deep phylogenies and chart somatic evolution from birth throughout life.
www.biorxiv.org/content/10.1...
Reposted by Raheleh Rahbari
New preprint from another part of my PhD! 📝👇
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Landscape of parental postzygotic mutations in >11,000 rare disease trios
Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the par...
tinyurl.com
October 28, 2025 at 11:04 AM
New preprint from another part of my PhD! 📝👇
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Reposted by Raheleh Rahbari
Another nice collaboration with @r-rahbari.bsky.social 's lab, PhD work by @isaacgs94.bsky.social on postzygotic mutations in the Genomics England 100,000 project.
Huge thanks to my supervisors @r-rahbari.bsky.social & @hilarycmartin.bsky.social, our collaborators, and most importantly, the @genomicsengland.bsky.social participants for making this research possible! ✨✨
October 29, 2025 at 9:33 PM
Another nice collaboration with @r-rahbari.bsky.social 's lab, PhD work by @isaacgs94.bsky.social on postzygotic mutations in the Genomics England 100,000 project.
Reposted by Raheleh Rahbari
If you saw preprint, biggest two updates are: Much improved discussion + variant calls now accessible
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
institutions.newscientist.com
October 8, 2025 at 3:51 PM
If you saw preprint, biggest two updates are: Much improved discussion + variant calls now accessible
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
Reposted by Raheleh Rahbari
Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
Sperm sequencing reveals extensive positive selection in the male germline - Nature
A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.
www.nature.com
October 8, 2025 at 3:51 PM
Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
Reposted by Raheleh Rahbari
Hotspots of human mutation point to clonal expansions in spermatogonia
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
Hotspots of human mutation point to clonal expansions in spermatogonia - Nature
A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.
www.nature.com
October 8, 2025 at 4:56 PM
Hotspots of human mutation point to clonal expansions in spermatogonia
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
Reposted by Raheleh Rahbari
🚨 New paper alert!
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Sex and smoking bias in the selection of somatic mutations in human bladder - Nature
Sex bias and association with smoking history identified in the landscape of driver mutations and clonal expansions in normal human bladder tissue may explain the higher bladder cancer risk in men and smokers.
www.nature.com
October 8, 2025 at 4:44 PM
🚨 New paper alert!
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Reposted by Raheleh Rahbari
This was a great collaboration between @geneticscam.bsky.social & @sangerinstitute.bsky.social, specifically the @hilarycmartin.bsky.social and @r-rahbari.bsky.social groups. We are also grateful to @genomicsengland.bsky.social for generating and supporting this fantastic resource.
May 16, 2025 at 7:41 PM
This was a great collaboration between @geneticscam.bsky.social & @sangerinstitute.bsky.social, specifically the @hilarycmartin.bsky.social and @r-rahbari.bsky.social groups. We are also grateful to @genomicsengland.bsky.social for generating and supporting this fantastic resource.
Reposted by Raheleh Rahbari
A fun collaboration with @aylwyn-scally.bsky.social and @r-rahbari.bsky.social's groups using data from @genomicsengland.bsky.social . Paper here: rdcu.be/embGi
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra
Nature Communications - Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that...
urldefense.proofpoint.com
May 16, 2025 at 8:17 PM
A fun collaboration with @aylwyn-scally.bsky.social and @r-rahbari.bsky.social's groups using data from @genomicsengland.bsky.social . Paper here: rdcu.be/embGi
Reposted by Raheleh Rahbari
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨👩👦!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra - Nature Communications
Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...
www.nature.com
May 16, 2025 at 5:37 PM
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨👩👦!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Raheleh Rahbari
A ridiculous amount of very careful work by @jahemker.bsky.social and coauthors gave a clear answer - one needs ultra-long and not just long reads to call SVs correctly in Drosophila. Now we are ready to quantify evolutionary impact of Drosophila SVs. Let us know what you think!
Excited to share the first manuscript from my PhD in which we leveraged ultra-long Nanopore sequencing, D. melanogaster inbred lines, and a ton of manual validation to investigate the effects of long-read length on population-level structural variant (SV) calling accuracy! doi.org/10.1101/2025...
Manual validation finds only ultra-long long-read sequencing enables faithful, population-level structural variant calling in Drosophila melanogaster euchromatin
The increasing accessibility of long-read sequencing and the rapid development of automated variant callers are promoting the generation of population-level structural variation data. However, the eff...
doi.org
April 25, 2025 at 8:19 PM
A ridiculous amount of very careful work by @jahemker.bsky.social and coauthors gave a clear answer - one needs ultra-long and not just long reads to call SVs correctly in Drosophila. Now we are ready to quantify evolutionary impact of Drosophila SVs. Let us know what you think!
Reposted by Raheleh Rahbari
My lab at hiring! - we have TWO postdoc positions (one computational, one wet lab focussed) at Yale @yaleschoolofmed.bsky.social, working closely with our group members at University of Cambridge, UK @cambridgeuni.bsky.social
Please help to spread the word!
Adverts with full details below ⬇️
Please help to spread the word!
Adverts with full details below ⬇️
March 26, 2025 at 3:31 PM
My lab at hiring! - we have TWO postdoc positions (one computational, one wet lab focussed) at Yale @yaleschoolofmed.bsky.social, working closely with our group members at University of Cambridge, UK @cambridgeuni.bsky.social
Please help to spread the word!
Adverts with full details below ⬇️
Please help to spread the word!
Adverts with full details below ⬇️
Reposted by Raheleh Rahbari
Now out in @science.org w/ @jshendure.bsky.social we present 'Genome-shuffle-seq': a method to shuffle mammalian genomes and characterize the impact of structural variants (SVs) with single-cell resolution in one experiment.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Multiplex generation and single-cell analysis of structural variants in mammalian genomes
Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) ...
www.science.org
January 31, 2025 at 7:41 PM
Now out in @science.org w/ @jshendure.bsky.social we present 'Genome-shuffle-seq': a method to shuffle mammalian genomes and characterize the impact of structural variants (SVs) with single-cell resolution in one experiment.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Reposted by Raheleh Rahbari
We're delighted to share our work on scrambling the human genome using prime editing, repetitive elements, and recombinases in @science.org , led by @jonaskoeppel.bsky.social , @f-raphael.bsky.social , with @proftomellis.bsky.social and George Church.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Randomizing the human genome by engineering recombination between repeat elements
We lack tools to edit DNA sequences at scales necessary to study 99% of the human genome that is noncoding. To address this gap, we applied CRISPR prime editing to insert recombination handles into re...
www.science.org
January 31, 2025 at 1:49 PM
We're delighted to share our work on scrambling the human genome using prime editing, repetitive elements, and recombinases in @science.org , led by @jonaskoeppel.bsky.social , @f-raphael.bsky.social , with @proftomellis.bsky.social and George Church.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Reposted by Raheleh Rahbari
If you’d like to work on such projects, our team is hiring postdocs! We are part of the new Generative and Synthetic Genomics programme with @benlehner.bsky.social and Jussi Taipale, combining data generation at scale with AI to solve biology.Check out sanger.wd103.myworkdayjobs.com/en-US/Wellco...
Postdoctoral Fellow | Generative and Synthetic Genomics
Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...
sanger.wd103.myworkdayjobs.com
January 31, 2025 at 1:49 PM
If you’d like to work on such projects, our team is hiring postdocs! We are part of the new Generative and Synthetic Genomics programme with @benlehner.bsky.social and Jussi Taipale, combining data generation at scale with AI to solve biology.Check out sanger.wd103.myworkdayjobs.com/en-US/Wellco...
Reposted by Raheleh Rahbari
The distribution of highly deleterious variants across human ancestry groups https://www.biorxiv.org/content/10.1101/2025.01.31.635988v1
February 1, 2025 at 11:32 AM
The distribution of highly deleterious variants across human ancestry groups https://www.biorxiv.org/content/10.1101/2025.01.31.635988v1
Reposted by Raheleh Rahbari
Freddie Whiting in our group wrote this thoughtful commentary on @karunamdphd.bsky.social's recent paper that explored cell state changes and plasticity in colorectal cancer evolution. He concludes we need to better understand epigenetic control of plasticity. authors.elsevier.com/c/1kTSf5Sx5g...
authors.elsevier.com
January 20, 2025 at 5:44 PM
Freddie Whiting in our group wrote this thoughtful commentary on @karunamdphd.bsky.social's recent paper that explored cell state changes and plasticity in colorectal cancer evolution. He concludes we need to better understand epigenetic control of plasticity. authors.elsevier.com/c/1kTSf5Sx5g...
Reposted by Raheleh Rahbari
Two months ago, an amazing preprint by
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
January 6, 2025 at 1:06 AM
Two months ago, an amazing preprint by
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
Reposted by Raheleh Rahbari
A potential new mRNA-based therapy for pre-eclampsia is demonstrated in a mouse study published in Nature. The method involves targeted delivery of mRNA to the placenta to restore normal maternal blood pressure and improve foetal health. 🧪
Placenta-tropic VEGF mRNA lipid nanoparticles ameliorate murine pre-eclampsia - Nature
A platform for mRNA lipid nanoparticle delivery to the placenta to treat pre-eclampsia is shown to improve fetal and maternal health in mice and has potential clinical applications in obstetric disorders and women's health.
go.nature.com
December 12, 2024 at 8:31 PM
A potential new mRNA-based therapy for pre-eclampsia is demonstrated in a mouse study published in Nature. The method involves targeted delivery of mRNA to the placenta to restore normal maternal blood pressure and improve foetal health. 🧪
Reposted by Raheleh Rahbari
Is it “winner-takes all” when the simplest living things compete? Check out my fresh publication on phage coexistence in Science and a thread below🧵 www.science.org/doi/10.1126/...
Diverse phage communities are maintained stably on a clonal bacterial host
Bacteriophages are the most abundant and phylogenetically diverse biological entities on Earth, yet the ecological mechanisms that sustain this extraordinary diversity remain unclear. In this study, w...
www.science.org
December 12, 2024 at 7:22 PM
Is it “winner-takes all” when the simplest living things compete? Check out my fresh publication on phage coexistence in Science and a thread below🧵 www.science.org/doi/10.1126/...
Reposted by Raheleh Rahbari
Spread the word! Registration for the "Mutations in Time and Space" conference is open. The meeting is all about the origins, patterns, and consequences of mutations across cells, individuals, populations, species. Abstract submission deadline is Jan 17th broadinstitute.swoogo.com/mits2025/597...
December 6, 2024 at 2:29 PM
Spread the word! Registration for the "Mutations in Time and Space" conference is open. The meeting is all about the origins, patterns, and consequences of mutations across cells, individuals, populations, species. Abstract submission deadline is Jan 17th broadinstitute.swoogo.com/mits2025/597...
Reposted by Raheleh Rahbari
Join us for a webinar with Sarah Teichmann and Aviv Regev, co-founders of the Human Cell Atlas, who will discuss the latest research.
Register here: https://go.nature.com/3OKQRKG
Browse the collection: https://go.nature.com/4gnRFRj
#AcademicSky 🧪
Register here: https://go.nature.com/3OKQRKG
Browse the collection: https://go.nature.com/4gnRFRj
#AcademicSky 🧪
December 9, 2024 at 8:22 PM
Join us for a webinar with Sarah Teichmann and Aviv Regev, co-founders of the Human Cell Atlas, who will discuss the latest research.
Register here: https://go.nature.com/3OKQRKG
Browse the collection: https://go.nature.com/4gnRFRj
#AcademicSky 🧪
Register here: https://go.nature.com/3OKQRKG
Browse the collection: https://go.nature.com/4gnRFRj
#AcademicSky 🧪