Lisa Pavinato
@lisapavinato.bsky.social
Postdoctoral researcher working at IOR - Bellinzona 🇨🇭
Passionate for neurodevelopment and neurogenetics, studying genetic human diseases. 🧬
#Stem cells and brain #organoids enthusiast 👀🧫
Passionate for neurodevelopment and neurogenetics, studying genetic human diseases. 🧬
#Stem cells and brain #organoids enthusiast 👀🧫
Pinned
Lisa Pavinato
@lisapavinato.bsky.social
· Feb 17
📣New today!
📄Contribution of autosomal rare and de novo variants to sex differences in #autism
🧑🤝🧑@hilarycmartin.bsky.social & colleagues
📄Contribution of autosomal rare and de novo variants to sex differences in #autism
🧑🤝🧑@hilarycmartin.bsky.social & colleagues
Contribution of autosomal rare and de novo variants to sex differences in autism
This work evaluates the impact of rare coding variants on autism predisposition in
47,061 autistic individuals. It shows that the effect sizes of damaging autosomal
variants on the liability scale do ...
www.cell.com
Proud to be part of the Autism Sequencing Consortium, which keeps on contributing to the understanding of the genetics of neurodevelopmental disorders!
Have a look at our recent work 👇
Have a look at our recent work 👇
🥼 Do you want to start working with human pluripotent stem cells?
📖 Check out our protocols collection "Good practices in hPSC handling", developed among the CorEuStem COST Action Project at COST Association
#stemcells
www.protocols.io/view/good-pr...
📖 Check out our protocols collection "Good practices in hPSC handling", developed among the CorEuStem COST Action Project at COST Association
#stemcells
www.protocols.io/view/good-pr...
Good practices in hPSC handling
This protocol collection provides a comprehensive and practical guide for the maintenance, passaging, freezing, and thawing of human pluripotent stem cells (hPSCs). Designed to...
www.protocols.io
May 27, 2025 at 3:24 PM
🥼 Do you want to start working with human pluripotent stem cells?
📖 Check out our protocols collection "Good practices in hPSC handling", developed among the CorEuStem COST Action Project at COST Association
#stemcells
www.protocols.io/view/good-pr...
📖 Check out our protocols collection "Good practices in hPSC handling", developed among the CorEuStem COST Action Project at COST Association
#stemcells
www.protocols.io/view/good-pr...
Happy to share our latest work on #CAPRIN1 linked #NDD at #neurogen25!
Thanks to @dmmjournal.bsky.social for supporting my attendance at this exciting conference ✨
#DMMgrants
Thanks to @dmmjournal.bsky.social for supporting my attendance at this exciting conference ✨
#DMMgrants
May 19, 2025 at 9:26 PM
Happy to share our latest work on #CAPRIN1 linked #NDD at #neurogen25!
Thanks to @dmmjournal.bsky.social for supporting my attendance at this exciting conference ✨
#DMMgrants
Thanks to @dmmjournal.bsky.social for supporting my attendance at this exciting conference ✨
#DMMgrants
Reposted by Lisa Pavinato
🆕 in human 🧠 research! The @bhadurilab.bsky.social at @uclastemcell.bsky.social generated a metabolomic atlas of human cortical development using both primary tissue and stem-cell derived #organoids. The work identified a new regulator of radial glia cell fate. 🧪
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Metabolic Atlas of Early Human Cortex Identifies Regulators of Cell Fate Transitions
Characterization of cell type emergence during human cortical development, which enables unique human cognition, has focused primarily on anatomical and transcriptional characterizations. Metabolic pr...
www.biorxiv.org
March 31, 2025 at 2:10 PM
🆕 in human 🧠 research! The @bhadurilab.bsky.social at @uclastemcell.bsky.social generated a metabolomic atlas of human cortical development using both primary tissue and stem-cell derived #organoids. The work identified a new regulator of radial glia cell fate. 🧪
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
🌟Finally out!
🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse!
Have a look www.nature.com/articles/s41...
🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse!
Have a look www.nature.com/articles/s41...
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses - Scientific Reports
Scientific Reports - Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses
www.nature.com
March 17, 2025 at 11:30 AM
🌟Finally out!
🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse!
Have a look www.nature.com/articles/s41...
🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse!
Have a look www.nature.com/articles/s41...
Proud to be part of the Autism Sequencing Consortium, which keeps on contributing to the understanding of the genetics of neurodevelopmental disorders!
Have a look at our recent work 👇
Have a look at our recent work 👇
📣New today!
📄Contribution of autosomal rare and de novo variants to sex differences in #autism
🧑🤝🧑@hilarycmartin.bsky.social & colleagues
📄Contribution of autosomal rare and de novo variants to sex differences in #autism
🧑🤝🧑@hilarycmartin.bsky.social & colleagues
Contribution of autosomal rare and de novo variants to sex differences in autism
This work evaluates the impact of rare coding variants on autism predisposition in
47,061 autistic individuals. It shows that the effect sizes of damaging autosomal
variants on the liability scale do ...
www.cell.com
February 17, 2025 at 4:44 PM
Proud to be part of the Autism Sequencing Consortium, which keeps on contributing to the understanding of the genetics of neurodevelopmental disorders!
Have a look at our recent work 👇
Have a look at our recent work 👇
We need to stop this never-ending history of not accessible papers. Science needs to be shared, and we should find a solution. How can a paper from *1993* still not being accessible?!!
#OpenScience
#OpenScience
February 10, 2025 at 6:47 PM
We need to stop this never-ending history of not accessible papers. Science needs to be shared, and we should find a solution. How can a paper from *1993* still not being accessible?!!
#OpenScience
#OpenScience
❓How does a cell become malignant?
🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’.
🔖In this Opinion, we highlight the most updated findings about the mechanisms behind *oncogenic competence*.
➡️https://authors.elsevier.com/c/1kW698Z12ybWbi
🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’.
🔖In this Opinion, we highlight the most updated findings about the mechanisms behind *oncogenic competence*.
➡️https://authors.elsevier.com/c/1kW698Z12ybWbi
January 28, 2025 at 11:27 AM
❓How does a cell become malignant?
🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’.
🔖In this Opinion, we highlight the most updated findings about the mechanisms behind *oncogenic competence*.
➡️https://authors.elsevier.com/c/1kW698Z12ybWbi
🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’.
🔖In this Opinion, we highlight the most updated findings about the mechanisms behind *oncogenic competence*.
➡️https://authors.elsevier.com/c/1kW698Z12ybWbi
2025 starts with two novel works in the field of neurodevelopmental disorders-linked genes!
▶️ RICTOR, a novel genes involved in NDDs pubmed.ncbi.nlm.nih.gov/39738822/
▶️ TAOKs, a family of protein causing NDDs pubmed.ncbi.nlm.nih.gov/39737487/
Thanks to all the collaborators 💪
▶️ RICTOR, a novel genes involved in NDDs pubmed.ncbi.nlm.nih.gov/39738822/
▶️ TAOKs, a family of protein causing NDDs pubmed.ncbi.nlm.nih.gov/39737487/
Thanks to all the collaborators 💪
January 7, 2025 at 3:07 PM
2025 starts with two novel works in the field of neurodevelopmental disorders-linked genes!
▶️ RICTOR, a novel genes involved in NDDs pubmed.ncbi.nlm.nih.gov/39738822/
▶️ TAOKs, a family of protein causing NDDs pubmed.ncbi.nlm.nih.gov/39737487/
Thanks to all the collaborators 💪
▶️ RICTOR, a novel genes involved in NDDs pubmed.ncbi.nlm.nih.gov/39738822/
▶️ TAOKs, a family of protein causing NDDs pubmed.ncbi.nlm.nih.gov/39737487/
Thanks to all the collaborators 💪
Reposted by Lisa Pavinato
Very happy @ellylewerissa.bsky.social & @naelnadifkasri-lab.bsky.social are presenting our collective effort (co-led by O. Leonardi from G. Testa’s lab) to capture the role of CHD2 dosage in neurodevelopment (for disease & evolution), using organoids + 2D neurons #cshl2024brain (Poster 111, today!)
![[Cortical Organoid image acquired by Oliviero Leonardi]](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:ljcyk7tem65k7epgu5pkwuuh/bafkreihk2ef7rk3wqwwy57lw7rnpo2fkwvxxncnjzy7h56nq7ol7ek5ewq@jpeg)
December 10, 2024 at 10:51 AM
Very happy @ellylewerissa.bsky.social & @naelnadifkasri-lab.bsky.social are presenting our collective effort (co-led by O. Leonardi from G. Testa’s lab) to capture the role of CHD2 dosage in neurodevelopment (for disease & evolution), using organoids + 2D neurons #cshl2024brain (Poster 111, today!)
Starting the week with 7+ hours of cell culture be like: 🫠🫠
December 9, 2024 at 7:25 PM
Starting the week with 7+ hours of cell culture be like: 🫠🫠
When I was a child I loved reading, and I wanted to become a writer ✍
Who knew I was destined to write for work...not books of course, but scientific stuff!
However, my name is finally also in a book, as we have been invited to write a (continue 👇)
Who knew I was destined to write for work...not books of course, but scientific stuff!
However, my name is finally also in a book, as we have been invited to write a (continue 👇)
December 3, 2024 at 12:30 PM
When I was a child I loved reading, and I wanted to become a writer ✍
Who knew I was destined to write for work...not books of course, but scientific stuff!
However, my name is finally also in a book, as we have been invited to write a (continue 👇)
Who knew I was destined to write for work...not books of course, but scientific stuff!
However, my name is finally also in a book, as we have been invited to write a (continue 👇)
Our last report is out today! 💥
Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one.
continue 👇
Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one.
continue 👇
November 28, 2024 at 10:07 AM
Our last report is out today! 💥
Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one.
continue 👇
Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one.
continue 👇