Paolo Aretini

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript. #T2T #ReferenceGenome #GeneticVariants #VariantAssessment #HQreferenceGenomes #NPJgenomicMedicine 🧬 🧪 🖥️
www.nature.com/articles/s41...

Advances in Preventing Transmission of Mitochondrial DNA Diseases | NEJM The author describes pronuclear transfer, a type of mitochondrial donation, which was made available to women with mitochondrial DNA disease in a reproductive care pathway implemented in Newcastle,...

Advances in Preventing Transmission of Mitochondrial DNA Diseases | New England Journal of Medicine www.nejm.org/doi/full/10....

Biomarkers, Omics and Artificial Intelligence for Early Detection of Pancreatic Cancer. Pancreatic ductal adenocarcinoma (PDAC) is frequently diagnosed in its late stages when treatment options are limited. Unlike other common cancers, th…

PDAC is often diagnosed late with no widespread screening, but high-risk individuals may be screened. This review covers risk identification, biomarker detection, AI applications, and cost-effectiveness.
www.sciencedirect.com/science/arti...
#pancreaticcancer#AI

Learning and actioning general principles of cancer cell drug sensitivity - Nature Communications Potential anti-tumor therapies remain to be discovered in cancer cell line high-throughput screening datasets. Here, the authors develop a machine learning approach to infer cancer cell drug sensitivi...

Interesting work to which our institute actively contributed
#cancertherapies #bioinformatics

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

Learning and actioning general principles of cancer cell drug sensitivity - Nature Communications Potential anti-tumor therapies remain to be discovered in cancer cell line high-throughput screening datasets. Here, the authors develop a machine learning approach to infer cancer cell drug sensitivi...

An innovative strategy to identify potential anti-cancer drugs using patients' transcriptomics data has been developed by the Bioinformatics group at BIO@SNS Lab, Scuola Normale Superiore.
Read the study on Nature Communications
#CancerResearch #Bioinformatics #Science
www.nature.com/articles/s41...

Abbiamo a disposizione il più potente "farmaco" per ridurre drasticamente il rischio di malattie cardiovascolari, cancro e malattie neurodegenerative abbattendo anche il rischio di morte e tutto questo è GRATIS. Dovete muovervi tenendo a mente che OGNI MINUTO CONTA! È per il vostro futuro. 🧪❣️

Chiara Maria Mazzanti on LinkedIn: We’re Hiring 👀🧐: Molecular Biology Researcher 🥼🧪⚗ Join Our Mission… We’re Hiring 👀🧐: Molecular Biology Researcher 🥼🧪⚗ Join Our Mission to Conquer Glioblastoma! 💪💪 Are you a molecular biologist with a passion for…

www.linkedin.com/posts/chiara...
#glioblastoma#molecularbiology

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📣 Two ERC-funded positions are available in the lab! If you are interested in exploring the mechanisms underlying mutation, we’d love to hear from you.

PhD: shorturl.at/Oc04N
Postdoc: shorturl.at/1ShHB

RPs and shares would be greatly appreciated!
🧪🧬🖥️ #ScienceJobs #PostdocJobs

I am proud to be part of Dr Chiara Mazzanti's team, winner of an AIRC Investigator Grant on glioblastoma research.(www.fpscience.it/mazzanti-chi...)
#glioblastoma#cancer

1/23 Big news for the #ObenaufLab! So excited to finally share our new study providing another puzzle piece, why immunotherapy fails in many tumors, now out in @Nature 🧵👇 www.nature.com/articles/s41...

From @seedgeorge.bsky.social Johann De Bono and colleagues (us !). In BRCA2m CRPC, reversion mutations emerge in 79% by end of olaparib treatment. Reversions associate with PFS and OS. Rare subclones without BRCA2-loss also emerge authors.elsevier.com/sd/article/S...

Exploring public cancer gene expression signatures across bulk, single-cell and spatial transcriptomics data with signifinder Bioconductor package Abstract. Understanding cancer mechanisms, defining subtypes, predicting prognosis and assessing therapy efficacy are crucial aspects of cancer research. G

Exploring public cancer gene expression signatures across bulk, single-cell and spatial transcriptomics data with signifinder Bioconductor package academic.oup.com/nargab/artic...

a couple of cartoon characters standing next to each other with one wearing a purple earring Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣

Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...

Blocking Scar Formation Prevents Glioblastoma Recurrence A combination of three therapies prevented scar tissue and stopped glioblastoma in its tracks in mice.

Many thanks to The Scientist for covering our recent paper on fibrotic scarring and brain tumor recurrence 🙏

Here's the #openaccess link for our original paper in Cancer Cell led by Watson*, Zomer* et al:
www.cell.com/cancer-cell/...

#scicomm 🧪🔬

www.the-scientist.com/blocking-sca...

Ops.
[BTW che casino sta diventando distinguere il vero dal falso se anche le testate cascano spesso per l'ansia da prestazione]

—Please give me an A.I. that automatically detects, interprets all types of medical. images (scans, retina, endoscopy, skin) that I can interact with, can integrate data from other sources, saves a lot of time, and improves accuracy
—Sure, here it is
www.nature.com/articles/s41...

GitHub - openbiox/UCSCXenaShiny: 📊 An R package for interactively exploring UCSC Xena https://xenabrowser.net/datapages/; Book: https://lishensuo.github.io/UCSCXenaShiny_Book; App online: https://shin... 📊 An R package for interactively exploring UCSC Xena https://xenabrowser.net/datapages/; Book: https://lishensuo.github.io/UCSCXenaShiny_Book; App online: https://shiny.hiplot.cn/ucsc-xena-shiny/, ...

UCSCXenaShiny, an interactive tool for exploring thousands of cancer datasets available on UCSC Xena. UCSCXenaShiny v2 is an open-source R package and a web application, freely accessible at github.com/openbiox/UCS....

Harnessing innate immune pathways for therapeutic advancement in cancer - Signal Transduction and Targeted Therapy Signal Transduction and Targeted Therapy - Harnessing innate immune pathways for therapeutic advancement in cancer

A stunning review of the pathways involved in innate immunity and implications for cancer treatment.
#innateimmunity
#cancer
www.nature.com/articles/s41...

We investigated the potential of NAD(P)H fluorescence lifetime imaging microscopy to predict Glioblastoma's response to Temozolomide (TMZ) treatment.
#TMZ
#FLIM
#Glioblastoma
www.fortunejournals.com/articles/nap...

Exploring Extracellular Vesicle Surface Protein Markers Produced by Glioblastoma Tumors: A Characterization Study Using In Vitro 3D Patient-Derived Cultures Background/Objectives: Glioblastoma (GBM) is an aggressive brain cancer with limited treatment options. Extracellular vesicles (EVs) derived from GBM cells contain important biomarkers, such as microR...

Glioblastoma (GBM) is an aggressive brain cancer with limited treatment options. This research aims to enhance our understanding of GBM progression by investigating extracellular vesicles (EVs) released by tumor cells.
#glioblastoma
#cancer
www.mdpi.com/2072-6694/16...