Marco Buttigieg
@marcobuttigieg_
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MD/PhD student in the Rauh Lab at Queen’s University | Vanier Scholar | Clonal hematopoiesis, inflammation, aging, and cancer
Kingston, ON
Joined April 2023
I'm super excited to share that our work on clonal hematopoiesis in the tumour microenvironment is now published in @CellRepMed!! By tracking CH mutations from the blood into the tumour (CH-Tum), we uncovered some new insights about CH in solid cancer https://t.co/Ge3DCDmKnq
cell.com
Buttigieg et al. demonstrate that the infiltration of somatically mutated leukocytes—clonal hematopoiesis (CH)—into the tumor microenvironment can lead to poor outcomes across solid tumors. By...
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Some awesome collaborative work led by Vincent Rondeau, Robert Vanner, John Dick and colleagues @PMResearch_UHN @QueensuSCRI @QueensPathology
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Happy to share that our work on TET2 CH in ICI therapy is now out in @CR_AACR! We found that TET2 mutations promote myeloid co-stimulatory programs and suppress T cell exhaustion, contributing to improved immunotherapy response! 🔗Read more here:
aacrjournals.org
Abstract. Somatic mutations inactivating TET2 are among the most common drivers of clonal hematopoiesis (CH). TET2 inactivation is associated with monocyte-derived inflammation and improved chimeric...
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Excited to share our study re CHIP & stroke! A few takeaways: 1. Biobanks are dynamic - re-analysis is key. Since 2022, 18k strokes have occurred in the UK Biobank 2. Menopause & CHIP-associated CVD warrants investigation 3. Large N is key to clarify driver heterogeneity.
We’re excited to share our new preprint on medRxiv 🧬 “Clonal Hematopoiesis and Risk of Stroke: Evidence from Over 800,000 Individuals Across Three Cohorts.” The largest study to date exploring CHIP & stroke 👉 https://t.co/RzLmdHKTGk
@AlexBickMDPhD @yash_pershad @VUMCDiscoveries
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New preprint! We know cancer cells with somatic mutations are selected to evade the immune system. With @imartincorena Peter Campbell @ZJL1435957 @QuotientTx, we asked if immune cells with somatic mutations are also selected to fight cancer. https://t.co/2CWjTgZ3nY 1/5
biorxiv.org
Cancer cells evolve to increase fitness and evade the immune system, but it is not clear if tumor infiltrating lymphocytes (TILs) undergo selection for somatic mutations that augment anti-cancer...
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Clonal hematopoiesis in solid tumors matters! I am so excited to share that my postdoctoral work studying the ways in which TET2-mutant macrophages can improve response to immune checkpoint therapy is out now at @Cancer_Cell! https://t.co/zCcPMDKJV2
cell.com
Herbrich et al. demonstrate that TET2-mutant clonal hematopoiesis improves response to immune checkpoint therapy in the context of solid tumors. Intratumoral TET2-mutant macrophages are immunogenic...
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🚨 Big news in #braincancer research! Brain Canada & @SRC_CRS are funding 2 top teams: Dr. Robert Vanner & Dr. Sheila Singh with $1M each over 3 years. @CDCR_Mac @UnityHealthTO Read more ➡️ https://t.co/o96kP7klWZ
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Really excited to share our work identifying novel forms of clonal hematopoiesis across ~490K whole genomes at #ASHG25 ! Talking about this Thursday at 1:45pm, Room 210C . https://t.co/7mpwVB3WGv See many of our results here:
medrxiv.org
As humans age, we acquire somatic mutations in our blood, leading to clonal hematopoiesis (CH). Despite the prevalence of clonal hematopoiesis (CH) in aged individuals, recent searches for selective...
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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. https://t.co/pciw5yME0x
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Excited to introduce GoT-Multi, out at @CellGenomics: https://t.co/vV0p7EC9Df! Developed together with the single cell wizard @LGMartelotto, GoT-Multi is a next gen single cell multi-omics - multiplexed genotyping in transcriptomes compatible with FFPE samples.
cell.com
Pak, Saurty-Seerunghen et al. present a method, GoT-Multi, that co-detects single-cell multiplexed somatic genotyping and whole transcriptomes in high throughput from fresh or FFPE samples, overcom...
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Our paper on clonal expansions in Sperm is out in Nature https://t.co/AFFStVD6T0 If you are interested in working at an intersection of Mendelian genomics/Population genetics/Clonal expansions +Cancer genetics/ and of course mutagenesis, please rich out about postdoc in my lab
nature.com
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...
Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. https://t.co/M5Ojbdn4Ya
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Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the oral somatic mutation landscape in >1000 people.
nature.com
Nature - A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables...
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BREAKING NEWS The 2025 #NobelPrize in Physiology or Medicine has been awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”
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🚨📢❗So proud and excited to share our latest work, "Clonal Hematopoiesis Dynamics and Evolutionary Fitness During Cancer Treatment Impact Clinical Outcomes", now available: https://t.co/EQu4Ilx2Hf🧵
medrxiv.org
Clonal hematopoiesis (CH) is the age-related expansion of mutated hematopoietic stem cells without other hematologic abnormalities. In patients with solid tumors, CH is associated with higher...
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Germline and somatic variants in DNMT3A and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension | European Heart Journal | Oxford Academic! @queensutime @KingstonHSC
academic.oup.com
AbstractBackground and Aims. Multiple germline gene variants promote familial and idiopathic pulmonary arterial hypertension (PAH); however, none are consi
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🎉Congratulations to our Senior Scientists Dr. Cheryl Arrowsmith and Dr. John Dick for receiving the Awards for Excellence in Cancer Research from Canadian Cancer Society! @pmcancercentre @UHN @UHN_Research
https://t.co/R9oH1LqDpC
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I am deeply honoured to receive the 2024 Canadian Cancer Society William E. Rawls Prize. This is a huge honour that motivates me to continue to do the type of work we do in cancer policy and global oncology. I am especially thankful to my nominator and mentors. I dedicate this
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Using a unique cohort of 10k doubly sequenced people in @VUMCDiscoveries's BioVU, @AlexBickMDPhD, @yash_pershad, and I investigated how well #WGS data really works for detecting #CHIP. https://t.co/b2lwSugwgG. Thread below! 1/n
medrxiv.org
Clonal hematopoiesis of indeterminate potential (CHIP) occurs when at least 4% of blood cells harbor somatic mutations in leukemogenic genes and is associated with increased risk for cardiovascular...
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There are much more structural variants within our genomes than previously conceived, >26,000 per person https://t.co/66GyVVcAmj
https://t.co/nGHIrVgMMn
nature.com
Nature - Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.
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We're super excited to announce the 10 recipients of our @QueensuSCRI INAUGURAL 2025 Sinclair Graduate Scholars in Cancer Research awardees. Bravo and congratulations to Kaytlin, Marco, Simona, Samantha, Natasha, Monica, Fatin, Ashley, Laura & Julian!!!!
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Delighted to share an updated review and our perspectives on clonal hematopoiesis and cancer in @NatureCancer in collaboration with Xiurong Cai and Bobby Bowman:
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