Raheleh Rahbari
@r-rahbari.bsky.social
Group Leader @Wellcome Sanger Institute. @CRUK fellow | Interested in mutations acquired during aging and their impact across generation.
🧬New from @r-rahbari.bsky.social & co! 📄Landscape of parental postzygotic mutations across >11,000 rare disease trios
Landscape of parental postzygotic mutations across >11,000 rare disease trios
Garcia-Salinas et al. detect early parental postzygotic mutations from standard-depth trio WGS across 12,015 rare disease trios, identifying 1,015 high-confidence events. Their catalog reveals distinc...
cell.com
🧬🧬🧬 REGISTRATION JUST OPENED! Make sure you join our DNA REPAIR MEETING 2026 ON PHYSIOLOGICAL CAUSES AND CONSEQUENCES OF GENOME INSTABILITY in Cologne, September 7-9, organized by the German Society for DNA Repair (DGDR) and the @dfg.de Research Unit 5504. www.for-5504.com/en/197/Confe...
aacrjournals.org/cancerdiscov... congratulations @landau.bsky.social & team. scG2P sounds really exciting!
Genotype-to-phenotype mapping of somatic clonal mosaicism via single-cell co-capture of DNA mutations and mRNA transcripts
Abstract. Somatic mosaicism is pervasively observed in human aging, with clonal expansions of cells harboring mutations in recurrently mutated driver genes. Bulk sequencing of tissues captures mutatio...
aacrjournals.org
new year, new job?! Exciting postdoc position opening in my lab at the Wellcome Sanger Institute. Fully funded by CRUK sanger.wd103.myworkdayjobs.com/en-US/Wellco... find out more at www.coelho-lab.com
Postdoctoral Fellow – A variant to function map of lung cancer
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
A paper in Nature presents a detailed map of human chromosomes within the nucleus. This resource provides a foundation for an improved understanding of how the physical layout of human DNA is associated with biological expression. go.nature.com/4pI8knB 🧬 🧪
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...
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 ...
biorxiv.org
GWAS has been an incredible discovery tool for human genetics: it regularly identifies *causal* links from 1000s of SNPs to any given trait. But mechanistic interpretation is usually difficult. Our latest work on causal models for this is out yesterday: www.nature.com/articles/s41... A short🧵:
Causal modelling of gene effects from regulators to programs to traits - Nature
Approaches combining genetic association and Perturb-seq data that link genetic variants to functional programs to traits are described.
nature.com
It would be necessary to adapt ultra accurate sperm screening methods like NanoSeq method for sperm donors. This technology can identify low-frequency mutations unique to sperm, addressing critical gaps in standard screening methods, as highlighted by this unfortunate story!
Sperm from donor with cancer-causing gene was used to conceive almost 200 children
Some children have already died and only a minority who inherit the mutation will escape cancer in their lifetimes.
bbc.com
A hidden evolutionary process has been uncovered in sperm — where certain harmful DNA changes are naturally favoured as men age. This gives some changes a competitive edge and increases the risk of genetic conditions. 🔬 Read here 👇 www.sanger.ac.uk/news_item/hi...
Hidden evolution in sperm raises disease risk for children as men age
Researchers reveal how certain harmful DNA variations become more common in sperm as men age, raising genetic disease risk for offspring.
sanger.ac.uk
Read ‘Complex de novo structural variants are an underestimated cause of rare disorders’ from @sangerinstitute.bsky.social, @genomicsengland.bsky.social, @cuh.nhs.uk and collaborators in @natcomms.nature.com here: www.nature.com/articles/s41...
Complex de novo structural variants are an underestimated cause of rare disorders - Nature Communications
De novo structural variants are an important cause of rare disorders but remain poorly understood. Here, the authors analyse over 12,000 families and reveal the prevalence, diversity, and clinical imp...
nature.com
www.nature.com/articles/s41...
Spatial architecture of development and disease - Nature Reviews Genetics
Spatial omics has empowered the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within ...
nature.com
GLP-1 drugs can help people lose weight by quelling hunger queues. Nature reports on the work by scientists testing if these drugs can help to cut cravings for cigarettes, alcohol and opioids. 🧪
Will blockbuster obesity drugs revolutionize addiction treatment?
Scientists are testing whether GLP-1 drugs can help to cut cravings for cigarettes, alcohol and opioids — as well as food.
go.nature.com
www.linkedin.com/posts/qian-z...
HLA-DQA1*05:01 and DQA1*05:05 inform choice of anti-TNF and concomitant use of immunomodulators in patients with inflammatory bowel disease | Qian Zhang
We can now better inform anti-TNF prescribing through HLA testing! Huge thanks to Tauseef Sharip, Chris Roberts, Eathar Shakweh MBBS BSc MRCP, Miles Parks, Tariq Ahmad, as well as Laura Fachal and Ca...
linkedin.com
a black and white cartoon of a man eating a hamburger and saying i 'll gladly pay you tuesday
ALT: a black and white cartoon of a man eating a hamburger and saying i 'll gladly pay you tuesday
media.tenor.com
Marco Festa-Bianchet 🇨🇦@marcofesta.bsky.social · 8mo agoWhite: strong fitness costs for young (3-5 yrs, many primiparous), and senescent (11+ yrs) mountain goat ♀️, almost no cost for prime-aged ♀️. Reproduction also reduced by winter snow. No impact of reproduction on ♀️ survival 🧪https://besjournals.onlinelibrary.wiley.com/doi/10.1111/1365-2656.70137
This study provides important results that show the sequence of cancer-driving mutations influences the likelihood of tumour development in the intestine, offering a deeper understanding of early cancer progression. 👇 www.sanger.ac.uk/news_item/or...
Order of cancer-driving mutations affects the chance of tumour development
Scientists reveal that mutation order influences tumour growth in the intestine.
sanger.ac.uk
Cancer Research UK Cambridge Institute@cruk-ci.bsky.social · 8mo agoNew research from our Winton Group reveals that the order of cancer-driving mutations plays an important role in whether tumours in the intestine can develop. Find out more: www.cruk.cam.ac.uk/news/order-o...
Hiring Senior Computational Postdoc to lead large-scale scRNAseq analysis for Project JAGUAR, one of the world’s most comprehensive single-cell immune resources from Latin American ancestries. If big data, global partnerships, human diversity and immune regulation excite you, apply! bit.ly/3XyFWrW
Senior Postdoctoral Fellow
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
Metamorphosis is nature at its weirdest and historian Oren Harman has just written a beautiful book about it. Also check out this link for free access to the review I wrote about the book for this week's Nature: nature.com/articles/d41...
Struggling to navigate the grant-funding maze? Discover expert guidance and practical tips to help you transform your idea into a successful, funded project ✅ Read more: https://sangerinstitute.blog/2025/11/26/how-to-get-grant-funding-expert-advice-for-a-successful-application/
Transcription start sites show a strong influx of heritable variants arising in early development. Our new paper is now in Nat. Comms: www.nature.com/articles/s41... It would be interesting to see this effect in the new mosaic-mutation dataset from @r-rahbari.bsky.social and @isaacgs94.bsky.social.
Transcription start sites experience a high influx of heritable variants fueled by early development - Nature Communications
The impact of transcription on germline mutagenesis remains poorly understood. Here, the authors identify a mutational hotspot at transcription start sites in the human germline that is significantly ...
nature.com
Vladimir (Vova) Seplyarskiy@vseplyarskiy.bsky.social · last yr.Great collaboration with the Weghorn lab! 🚀 We show that transcription start sites have higher heritable mutation rates due to mosaic variants, which can be transmitted to the next generation. Though filtered from de novo analyses, they shape SNV distributions.
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.
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.
medsci.ox.ac.uk
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...
@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
Kevin Monahan@kevinmonahan.bsky.social · 9mo agoWe 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
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...
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
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
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.
Isaac García@isaacgs94.bsky.social · 9mo agoHuge 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! ✨✨
