Silvia
@s-amor.bsky.social
Postdoc at Jordanova Lab working on axonal neuropathy | Yeast & iPSCs | Calcium enthusiast | Woman in STEM (she/her) | Raised by volcanoes 🌋
Reposted by Silvia
New paper from the Jordanova lab 📣
The study provides genetic + functional evidence across three families (8 individuals), linking COX18 (a Complex IV assembly factor) to predominantly peripheral neuropathy, with occasional CNS features.
https://tinyurl.com/3ybz8w65
The study provides genetic + functional evidence across three families (8 individuals), linking COX18 (a Complex IV assembly factor) to predominantly peripheral neuropathy, with occasional CNS features.
https://tinyurl.com/3ybz8w65
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Armirola-Ricaurte et al. report that variants in the COX18 gene can cause autosomal recessive axonal Charcot-Marie-Tooth disease type 2 with or without CNS
academic.oup.com
September 1, 2025 at 3:26 PM
New paper from the Jordanova lab 📣
The study provides genetic + functional evidence across three families (8 individuals), linking COX18 (a Complex IV assembly factor) to predominantly peripheral neuropathy, with occasional CNS features.
https://tinyurl.com/3ybz8w65
The study provides genetic + functional evidence across three families (8 individuals), linking COX18 (a Complex IV assembly factor) to predominantly peripheral neuropathy, with occasional CNS features.
https://tinyurl.com/3ybz8w65
Reposted by Silvia
Last month, Matilde Malcorps and Luiza Ramos from the Jordanova Lab brought hands-on genetics to life for students at GO! Atheneum Berchem.
Thank you for the warm welcome and engaging discussions! Outreach like this shows just how powerful early scientific experiences can be.
Thank you for the warm welcome and engaging discussions! Outreach like this shows just how powerful early scientific experiences can be.
April 8, 2025 at 8:18 AM
Last month, Matilde Malcorps and Luiza Ramos from the Jordanova Lab brought hands-on genetics to life for students at GO! Atheneum Berchem.
Thank you for the warm welcome and engaging discussions! Outreach like this shows just how powerful early scientific experiences can be.
Thank you for the warm welcome and engaging discussions! Outreach like this shows just how powerful early scientific experiences can be.
Reposted by Silvia
Rare, but not alone. Today, we light up for #RareDiseaseDay. We recognize the strength of those living with rare diseases and the science that seeks to understand, diagnose, and treat them. #PatientsFirst 🧬 💙
February 28, 2025 at 3:33 PM
Rare, but not alone. Today, we light up for #RareDiseaseDay. We recognize the strength of those living with rare diseases and the science that seeks to understand, diagnose, and treat them. #PatientsFirst 🧬 💙
Reposted by Silvia
Exciting news! Our paper on GWAS gene prioritization for Creutzfeldt-Jakob Disease is now published in Brain! 🧠🧬 @brain1878.bsky.social
We leverage eQTL and pQTL catalogues to identify prioritized risk genes with potential roles in prion disease.
Check it out here: academic.oup.com/brain/advanc...
We leverage eQTL and pQTL catalogues to identify prioritized risk genes with potential roles in prion disease.
Check it out here: academic.oup.com/brain/advanc...
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
Küçükali & Hill et al. integrate GWAS data with transcriptome and proteome-wide association studies to better understand risk factors for sporadic Creu
academic.oup.com
February 13, 2025 at 1:23 PM
Exciting news! Our paper on GWAS gene prioritization for Creutzfeldt-Jakob Disease is now published in Brain! 🧠🧬 @brain1878.bsky.social
We leverage eQTL and pQTL catalogues to identify prioritized risk genes with potential roles in prion disease.
Check it out here: academic.oup.com/brain/advanc...
We leverage eQTL and pQTL catalogues to identify prioritized risk genes with potential roles in prion disease.
Check it out here: academic.oup.com/brain/advanc...
Reposted by Silvia
💼💥Ph.D. JOB ALERT!!! Together with the lab of Prof. Weckhuysen, we are looking for a motivated Ph.D. student 🧑🎓 to explore the wonders of liquid biopsies and help diagnosing Alzheimer's disease and epilepsy patients 🧠🩸
Joint PhD candidate in the laboratories of Sarah Weckhuysen and Kristel Sleegers - VIB
The Weckhuysen team and the Sleegers team at the VIB-UAntwerp Center for Molecular Neuro
jobs.vib.be
January 23, 2025 at 2:23 PM
💼💥Ph.D. JOB ALERT!!! Together with the lab of Prof. Weckhuysen, we are looking for a motivated Ph.D. student 🧑🎓 to explore the wonders of liquid biopsies and help diagnosing Alzheimer's disease and epilepsy patients 🧠🩸
Reposted by Silvia
multidisciplinarity ✅
collaboration ✅
inquisitive mindset ✅
All crucial ingredients of the 'techno-scientific ecosystem' we're always on about.
A great example of what can be accomplished in such an environment is #scywalker, a scalable analysis workflow for long-read SC transcriptome sequencing 👇
collaboration ✅
inquisitive mindset ✅
All crucial ingredients of the 'techno-scientific ecosystem' we're always on about.
A great example of what can be accomplished in such an environment is #scywalker, a scalable analysis workflow for long-read SC transcriptome sequencing 👇
“There is more to be discovered, if you develop the right tools”
Discover scywalker, VIB's groundbreaking workflow for long-read single-cell transcriptome sequencing. Uncover new isoforms, streamline massive datasets, and explore diverse applications from neuroscie...
blog.vib.be
January 9, 2025 at 9:13 AM
multidisciplinarity ✅
collaboration ✅
inquisitive mindset ✅
All crucial ingredients of the 'techno-scientific ecosystem' we're always on about.
A great example of what can be accomplished in such an environment is #scywalker, a scalable analysis workflow for long-read SC transcriptome sequencing 👇
collaboration ✅
inquisitive mindset ✅
All crucial ingredients of the 'techno-scientific ecosystem' we're always on about.
A great example of what can be accomplished in such an environment is #scywalker, a scalable analysis workflow for long-read SC transcriptome sequencing 👇
Reposted by Silvia
🧠 New insights into the genetic factors that drive Alzheimer’s disease
👉 Read here: vibbio.tech/4izHlYc
🔬 Study led by Prof. Kristel Sleegers of VIB-UAntwerp Center for Molecular Neurology @uantwerpen.bsky.social @alzassociation.bsky.social
👉 Read here: vibbio.tech/4izHlYc
🔬 Study led by Prof. Kristel Sleegers of VIB-UAntwerp Center for Molecular Neurology @uantwerpen.bsky.social @alzassociation.bsky.social
December 12, 2024 at 1:02 PM
🧠 New insights into the genetic factors that drive Alzheimer’s disease
👉 Read here: vibbio.tech/4izHlYc
🔬 Study led by Prof. Kristel Sleegers of VIB-UAntwerp Center for Molecular Neurology @uantwerpen.bsky.social @alzassociation.bsky.social
👉 Read here: vibbio.tech/4izHlYc
🔬 Study led by Prof. Kristel Sleegers of VIB-UAntwerp Center for Molecular Neurology @uantwerpen.bsky.social @alzassociation.bsky.social
Reposted by Silvia
I could not be more thrilled to announce the Nature Methods @naturemethods.bsky.social Method of the Year is Spatial Proteomics! Please see our editorial as a roadmap to the fantastic content in this special issue! www.nature.com/articles/s41...
Method of the Year 2024: spatial proteomics - Nature Methods
Approaches for profiling the spatial proteome in tissues are the basis of atlas-scale projects that are delivering on their promise for understanding biological complexity in health and disease.
www.nature.com
December 6, 2024 at 8:52 PM
I could not be more thrilled to announce the Nature Methods @naturemethods.bsky.social Method of the Year is Spatial Proteomics! Please see our editorial as a roadmap to the fantastic content in this special issue! www.nature.com/articles/s41...