Mattia Frontini
@ciavenasc.bsky.social
Functional Genomics, Rare Diseases and Cardiovascular Disease @ Exeter University ORCID 0000-0001-8074-6299
I’m recruiting public contributors to help shape my Alzheimer’s Research UK-funded work on head impacts and future brain health. No scientific experience is needed. Paid role, with online and Exeter meetings. Interested? Email p.weightman-potter2@exeter.ac.uk by 31 Oct 2026. Please share! #PPIE
Our next Variant Effects Seminar is tomorrow – October 6, when @marianomartin.bsky.social and Seulki Kwon will present their research. Discover this month's speakers and get joining instructions: www.varianteffect.org/seminar-seri... #DeepMutationalScanning #AtlasOfVariantEffects
📢🧬Join us on Wednesday, Oct 7th for the next #FragileNucleosome seminar to hear exciting chromatin stories from Moonmoon and Paul! If you still haven't registered for our series: us06web.zoom.us/webinar/regi...
CUT&ID does Genomics+Proteomics in one shot via the fusion protein Lazarus Out @narjournal.bsky.social Unstoppable @annanordin.bsky.social is thinker+executor Get in touch if you wish to try it—plasmid soon @addgene.bsky.social 🙏 @liu.se @scilifelab.se @kawresearch.bsky.social @cancerfonden
Claudio Cantù@claudiocantu81.bsky.social · 10mo agoCan one map the genome-wide binding (1) and its protein partners (2) simultaneously from the same sample? Yes, one can. with CUT&ID ✂️🪪 Spearheaded — singlehandedly — by @annanordin.bsky.social No need of transgenesis, cloning and overexpression. Check it out, it's fast and its works.
Switzerland has lost almost 20% of its glacier ice in just five years. If emissions continue to rise as they have, practically all glaciers in the Swiss Alps could disappear by 2100. doi.glamos.ch/pubs/annualr... 📷 GLAMOS / Urs Steinegger / Matthias Huss
remember to join us for #FNucleosome seminar in about 2 hours!!
FragileNucleosome@fnucleosome.bsky.social · 3w ago📢🧬join us on Wednesday, Sept 23rd for the next #FNucleosome seminar to hear exciting chromatin/transcription stories from Oscar Campos and @giacomodonatijd.bsky.social! Register here: us06web.zoom.us/webinar/regi...
I have spent weeks shadowing the RNLI and I can tell you, they do it out of nothing more than compassion. Wrote about the heroes I've met over the years in this free-to-read post. nicolakelly.substack.com/p/the-rnli-a...
The RNLI aren't traitors; they're heroes
I have spent weeks shadowing lifeboat crews. Here's what they do and what it's like.
nicolakelly.substack.com
We are recruiting for a Postdoctoral Researcher in Biomedical AI to open up new frontiers at the interface of genetics, biochemistry and the use of population-scale data to guide development of therapeutics! www.cam.ac.uk/jobs/researc... Come do some blue sky research w/ me & @cfoguet.bsky.social 😁
📣 Interested in non-coding disease-causing variants? Check out our review "Mechanisms underlying disease-causing variants in promoters and enhancers". Interesting mechanisms, challenges and future perspectives. Great to work with @wbickmor.bsky.social, Kun and Ryan! www.nature.com/articles/s41...
Mechanisms underlying disease-causing variants in promoters and enhancers - Nature Genetics
This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...
nature.com
Wendy Bickmore@wbickmor.bsky.social · last mo.It was great working with students Kun and Ryan and @hannahlong.bsky.social, combing the literature to try and find examples of bona fide disease-causing variants in non-coding elements - promoters, enhancers and silencers. www.nature.com/articles/s41...
🧬🔬 Why are enhancers transcribed and how does that impact gene regulation? I’m really excited to share our new paper in @science.org showing that noncoding RNAs control the timing of gene activation in embryos. With Mike Levine #ScienceResearch @columbiamed.bsky.social A few highlights below... 🧵👇
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely ...
science.org
The U.K. commission on the regulation of Al in healthcare has now been published. It aims to set the U.K. as an health innovation leader with proportionate regulation to support Al use with patient safety. www.gov.uk/government/p...
National Commission into the Regulation of AI in Healthcare: Recommendations for a future regulatory framework
Recommendations from the National Commission into the Regulation of AI in Healthcare, which was established to advise government on a future regulatory framework for AI in healthcare.
gov.uk
The final version is now online! #RNALocalization #Chromatin #FunctionalGenomics #CellMigration #CancerBiology www.nature.com/articles/s41...
Multilayered control of mRNA delivery to cell protrusions drives localized mini-cytoplasm establishment for stress-induced cell activation - Nature Communications
Here the authors show that, under stress, epithelial cells reveal an unexpected role for a chromatin factor in directing mRNA to cell protrusions, enabling local organelle assembly and cell movement, ...
nature.com
Giacomo Donati@giacomodonatijd.bsky.social · 3mo agoHow do cells build functional protrusions during stress? In our @natcomms.nature.com paper, we uncover a CBX3-dependent chromatin-to-protrusion mRNA transport pathway that organizes a local "mini-cytoplasm" to drive cell activation, migration and invasion. Here's the story 🧵👇 doi.org/10.1038/s414...
wait, wait, what ????? protein-coding chimeric mRNAs 🤯 www.nature.com/articles/s41...
Functional chimeric mRNAs encode proteins in mammalian immunity - Nature
Inflammation induces interchromosomal DNA interactions that bring parent genes into close proximity, facilitating the formation of chimeric mRNAs that encode physiologically relevant, functional prote...
nature.com
If you're interpreting functional assays for clinical use, check out this resource from members of our ClinGen/AVE Functional Data Working Group. Get more information and download the presentation: www.varianteffect.org/clinical-app... Read the preprint: www.medrxiv.org/content/10.6...
Have you listened to the Variants and Us (VUS) podcast yet? Now into its second season, the podcast focuses on the basic and translational science necessary to map the effect of variants in disease and rare disease. Listen to all episodes here: www.varianteffect.org/podcast/
hyper enhancers when?
Nature Cell Biology@natcellbio.nature.com · 2mo ago☕Zhao et al. describe an enhancer-dense nuclear microenvironment in the cerebellum that includes long neuronal genes and mega-enhancers. This microenvironment partly depends on Etv1 and is dynamic during neuronal maturation. 👉https://rdcu.be/fBGcW www.nature.com/articles/s41...
Report Suggests Nearly No One Is Buying AI Generated Goods https://kotaku.com/3d-model-markets-are-being-flooded-with-ai-sellers-but-no-ones-buying-2000724790
Report Suggests Nearly No One Is Buying AI Generated Goods
A classic conundrum of 'why would I buy something you didn’t make,' platforms like CGTrader has shelves of AI made models collecting dust
kotaku.com
Appalling string of misconducts at Marseille IHU . 64 publications retracted & 270 with expression of concern... What a glorious success Dr Raoult!
Follow-up investigation of ethics approvals and regulatory compliance in publications from the IHU-Mi - Research Integrity and Peer Review
Background Following our previous investigation of 456 articles published by the IHU-Méditerranée Infection (IHU-Mi) institute in Marseille, France, subsequent editorial actions, institutional reviews...
link.springer.com
Very happy to see this story finally out in @natbiotech.nature.com: www.nature.com/articles/s41... Fantastic collaboration with @lancasterlab.bsky.social on how to identify and ‘fix’ differentiation-compromised human pluripotent stem cells. @babrahaminst.bsky.social @mrclmb.ac.uk 🧵 below
Reversible epiblast regionalization determines differentiation potential of human pluripotent stem cells - Nature Biotechnology
The differentiation variability of human pluripotent stem cell lines is diagnosed and corrected.
nature.com
Newborn screening is incredibly important, but expanding it is not the only way to reduce the diagnostic odyssey in rare disease. Access to rapid diagnostic testing and research are also crucial... as we discuss in a new article in Nature Medicine rdcu.be/fwqpP
A really cool preprint from Joanna Wysocka's lab showing that housekeeping genes use distal enhancers as dosage buffers against TF fluctuations, but only during critical cell fate transitions. Makes so much sense! www.biorxiv.org/content/10.6...
Enhancer buffering protects dosage-sensitive housekeeping genes during vulnerable developmental transitions
Housekeeping genes maintain robust expression across cell types despite dynamic transcription factor fluctuations, yet their haploinsufficiency is associated with many tissue-specific developmental di...
biorxiv.org
Very happy to see this story finally out (link in comments)! We used low-input Capture Hi-C to profile promoter-anchored chromosomal interactions in Type 3 innate lymphoid cells (ILC3s) - rare tissue-resident lymphocytes that lack antigen receptors and regulate barrier immunity.
MRC Laboratory of Medical Sciences@mrc-lms.bsky.social · 2mo agoNew research published today in Nature Genetics uses a technique called mini-Capture Hi-C to map 3D DNA folding in rare ILC3 immune cells, linking 100+ genes to immune disease risk in this cell type 🧬
We're hiring 4 postdocs at @unibo.it to study nervous system evolution. Seeking expertise in single-cell genomics, molecular or developmental biology in ctenophores, cnidarians, echinoderms, flies or human stem cells. 2+2 yrs contract. Deadline: 26 Aug. Please share! bandi.unibo.it/s/apos7/proc...
Procedura di valutazione comparativa per titoli e colloquio per il conferimento di n. 4 contratti di ricerca presso il Dipartimento di Scienze Biologiche, Geologiche e Ambientali - SSD BIOS-04/A - GSD...
bandi.unibo.it
Help shape the future of clinical guidance in thrombosis and hemostasis! Submissions should address a high-priority need in the field, have a clearly defined scope and be supported by sufficient high-quality evidence Submit your proposal: bit.ly/4bfU2Wh
As our Variant Effect Seminar Series (VESS) returns, we caught up with two of our earliest speakers, Mafalda Dias & Jonathan Frazer. Now group leaders at the Centre for Genomic Regulation (CRG) in Barcelona, we explore the role of VESS in their journey. Read their interview: tinyurl.com/m4ncw2nf
Mark your calendars for the next instalment of our Variant Effects Seminar Series. 🗓️ On August 4, Sarah Gurev will be our sole speaker, with her extended presentation, 'Toward reliable viral mutation effect prediction for pandemic preparedness'. More info: tinyurl.com/4ms3mmzy
