Marco Vismara

Gene therapy cures genetic deafness for the first time - in kids AND adults.

One injection restored hearing in 10 people aged 1.5 to 24 years.

Here's how 🧵

📣 ELIXIR has awarded €124,000 in infrastructure service funding to support the Beacon network. The funding will support 💪 operational activities at ELIXIR Spain, ELIXIR Switzerland & ELIXIR Finland.
@ga4gh.org
Read the news: https://loom.ly/HZeATDA

Exciting Senior Scientist 👩‍🔬 👨‍🔬 role available in my research group 🧠 🦠 - Closing date Tuesday 5th August 2025.

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@apcmicrobiomeirel.bsky.social @anatneuroucc.bsky.social
Full details here
my.corehr.com/pls/uccrecru...

📣 Cilia Lab is growing 📣 - we have 2️⃣ open positions at @uoe-igc.bsky.social @edinburgh-uni.bsky.social for talented and motivated researchers interested in disease modelling & genetic therapies which target #RareRespiratoryDiseases at their root cause. 🧪🧪#ciliopathies #PrimaryCiliaryDyskinesia 1/4

This is American fascism.

Have you ever used any @ebi.embl.org resources for your work? Then you can help us! Fill out the survey below to help us:
🌍 Demonstrate the real-world impact of these resources
🤓 Understand your needs and experience
🌟 Secure continued funding to maintain and develop our resources

These Curie courses are great. Highly recommend!

Mathieu Quinodoz #ESHG2025

De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9

#MorbidGene

www.medrxiv.org/content/10.1...

Age of onset typically 15-30y

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci - European Journal of Human Genetics European Journal of Human Genetics - Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

📢Out in @ejhg-journal.bsky.social‬
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature

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

🧬 Hello Bluesky!
The European Journal of Human Genetics is here now!

📢 Follow us for research highlights and scientific discussions. Let’s connect, share, and advance genetics together.

🗞️ Check out our latest issue:
🔗 www.nature.com/ejhg/volumes...

#HumanGenetics #Genomics #EJHG #AcademicBluesky

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.

New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases.
#snRNAs

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

Bioconductor moving to Zulip for community chat

stat.ethz.ch/pipermail/bi...

Here is the 2025 embryo alphabet from alligator to zebrafish. Developmental biology is stunning & leads to important discoveries for human medicine.
@socdevbio.bsky.social

Fascinating stuff

While helping out on a cool genomics project recently, I came to realise I’d been taught a pretty big inaccuracy about the events that occur at fertilization. I suspect that almost everyone reading this has the same misapprehension, so let’s do some learning together: 1/

NIH funding supporting the HMMER and Infernal software projects has been terminated. NIH states that our work, as well as all other federally funded research at Harvard, is of no benefit to the US.

Fortunately there is also occasionally very good news in the world!

No one ever talks about how the Titanic successfully crossed 80% of the Atlantic

Generating dermatopathology reports from gigapixel whole slide images with HistoGPT | Nature Communications Histopathology is the reference standard for diagnosing the presence and nature of many diseases, including cancer. However, analyzing tissue samples under a microscope and summarizing the findings in a comprehensive pathology report is time-consuming, labor-intensive, and non-standardized. To address this problem, we present HistoGPT, a vision language model that generates pathology reports from a patient’s multiple full-resolution histology images. It is trained on 15,129 whole slide images from 6705 dermatology patients with corresponding pathology reports. The generated reports match the quality of human-written reports for common and homogeneous malignancies, as confirmed by natural language processing metrics and domain expert analysis. We evaluate HistoGPT in an international, multi-center clinical study and show that it can accurately predict tumor subtypes, tumor thickness, and tumor margins in a zero-shot fashion. Our model demonstrates the potential of artificial intelligenc

Discover HistoGPT! Trained on 15,129 slides, it transforms gigapixel histology images into instant pathology reports, revolutionizing diagnostics. PMID:40419470, Nat Commun 2025, @NatureComms https://doi.org/10.1038/s41467-025-60014-x #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

My advice for graduates: 1. Be cool. 2. Don't be a fool. 3. Avoid being a tool.

Glad to introduce you Mr. Honeyed Cat.
en.m.wikipedia.org/wiki/Erasmo_...

Abstracts Abstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting.

It's that time of year! Submit your fabulous 🧬 science for #ASHG25 in Boston! ABSTRACTS DUE 🗓️ JUNE 9! We'd love to see you there @geneticssociety.bsky.social

Submit your science and remind your friends to do the same!

www.ashg.org/meetings/202...

#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!

Now on in Gold: @jbuchanan-ox.bsky.social and one of my favourite topics #ESHG2025 — measuring the economic value of #genomics

Oxford Nanopore Tech Update LC2025 highlights My highlights from the LC2025 announcements

Oxford Nanopore Tech Update LC2025. My full analysis of what this means for NGS and Multi-Omics, including the new Proteomics PoC. open.substack.com/pub/albertvi...

What’s the collective noun for a dance floor of geneticists #ESHG2025

Welcome to the last day of #eshg2025! Tune in on one of our symposia or educational sessions starting now.

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

GertJan van Ommen Citation Awards:

1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing

#ESHG2025

#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)