Our new paper explores therapeutic avenues for Koolen-de Vries Syndrome Using hiPSC-derived neurons and MEA-seq, we linked molecular changes to neuronal network dysfunction to identify CLCN4 as a key mediator and found that phloretin can rescue network activity! www.nature.com/articles/s41...

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome - Molecular Psychiatry

Molecular Psychiatry - Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome

nature.com

"Monogenic no more: are all epilepsies polygenic?" by Remi Stevelink & colleagues FREE till April 1st at authors.elsevier.com/a/1mbEocQbJI...

New pre-print is out! We combined long- and short-read RNA sequencing in iPSC-derived excitatory neurons, astrocytes, and microglia to build a cell-type resolved atlas of NMD-sensitive alternative splicing. www.biorxiv.org/content/10.6...

Excited to share this new study by @Annika Mordelt, in which we developed MEA-LINK, coupling MEA measurements one-on-one with secretome measurements. We identify a new mechanism by which microglia protect from neuronal hyperactivity. www.biorxiv.org/content/10.6...

New paper alert! 🧠🧬 Our latest study on human-specific fusion transcripts in the brain is now out in Nucleic Acids Research: academic.oup.com/nar/article/... Analyzing human brain samples we found 1,458 fusion transcripts, many with protein-coding potential, human-specific and linked to NDDs

Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain

Abstract. Alternative splicing is a well-known contributor to transcriptomic diversity between individuals. Less explored are inter-gene splicing events, w

academic.oup.com

Happy holidays from all of us 🎄. We hope you get some well-deserved rest, enjoy good company, spread kindness, and come back refreshed with lots of inspiration for the new year!

Long-read genome sequencing is new first-tier generic test in diagnostics of rare diseases So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social. www.radboudumc.nl/en/news-item... (1/n)

World first: Radboudumc pioneers new genetic test in clinical practice - New test is faster, more efficient, and provides more diagnoses for rare diseases

17 November 2025

radboudumc.nl

Our new manuscript, led by Emily Corrigan, examines inhibitory neuron diversity across approximately 160 million years of evolutionary divergence, as part of BRAIN Initiative Cell Atlas Network (BICAN) developing brain atlas package: www.nature.com/articles/s41...

Conservation and alteration of mammalian striatal interneurons - Nature

An analysis of cell-type diversity in brain samples from a variety of mammalian species, both during development and in adult animals, reveals that the TAC3 initial class of striatal interneurons is c...

nature.com

James Watson, Co-Discoverer of the Structure of DNA, Is Dead at 97 www.nytimes.com/2025/11/07/s...

James Watson, Co-Discoverer of the Structure of DNA, Is Dead at 97

nytimes.com

Third time in a row authors “forget” to cite a very relevant paper with almost identical conclusions. With rushed reviews, it feels like they’re banking on reviewers missing it. Please cite the work you build on. This pattern is exhausting.

No, Tylenol does not cause autism. And there is no compelling evidence that leucovorin reduces symptoms. A consensus summary is found here - www.coalitionofautismscientists.org

Very interesting pre-print by @moritz-negwer.mstdn.science.ap.brid.gy and @naelnadifkasri-lab.bsky.social using a new clearing technology to capture the abundance of specific neuron populations in a mouse model of ASD. #autism #neurodevelopment #Kleefstra www.biorxiv.org/content/10.1...

Whole-brain clearing reveals region- and cell type-specific imbalances in inhibitory neurons in a mouse model for Kleefstra Syndrome

GABAergic inhibition is essential for balanced brain function and is frequently disrupted in neurodevelopmental disorders such as autism spectrum disorder (ASD). The inhibition is generated by a diver...

biorxiv.org

New #cilia preprint alert Our latest manuscript is now live on bioRxiv: "The Neuronal Primary Cilium is a Key Regulator of Homeostatic Plasticity" We hope you enjoy reading it! www.biorxiv.org/content/10.1...

The Neuronal Primary Cilium is a Key Regulator of Homeostatic Plasticity

The capacity of neurons to maintain stable activity levels through homeostatic plasticity is essential for proper brain function. Primary cilia, which are non-motile, antenna-like organelles projectin...

biorxiv.org

New preprint alert! Excited to share our latest study, now live on bioRxiv: "The NSL Complex Promotes Neural Development by Preventing R-Loop Induced Replication Stress" www.biorxiv.org/content/10.1...

THE NSL COMPLEX PROMOTES NEURAL DEVELOPMENT BY PREVENTING R-LOOP INDUCED REPLICATION STRESS

Early neuronal development relies on the proliferation of neural progenitor cells, making this developmental stage particularly vulnerable to DNA replication impediments. Here, we identify a non-canon...

biorxiv.org

Detailed characterization of the recurrent, independent evolution of a medically relevant locus across humans and great apes — the 17q21.31 locus By @psudmant.bsky.social and colleagues 🧪🧬 www.biorxiv.org/content/10.1...

Rapid turnover and recurrent structural variation at the 17q21.31 locus in modern and ancient human genomes, and primates

The 17q21.31 locus in humans harbors several complex structural haplotypes including a ~970kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causi...

biorxiv.org

🧠 Join us in Rotterdam for a one-day meeting focused on iPSC-Driven Therapeutic Innovation for Brain Disorders! We’re thrilled to announce our keynote speaker @sergiuppasca.bsky.social 📅 Event date: September 19, 2025 📍 Location: Erasmus MC Rotterdam 🔗 Register now: www.neurodevdisorders.org

PSIDER NETWORKING MEETING: IPSC-DRIVEN THERAPEUTIC INNOVATION FOR BRAIN DISORDERS

Joint meeting of the ZonMW PSIDER consortia ​ This year we organize a joint meeting of the ZonMW PSIDER consortia TAILORED and BRAINmodel, two large scientific consortia supported by ZonMW.  We...

neurodevdisorders.org

It was a pleasure of having @cedricboeckx.bsky.social visiting us on his way to the Max Planck in Nijmegen. He even wanted to help @ellylewerissa.bsky.social in the lab. Look at her reaction.

What an incredible week at the GRC on Excitatory Synapses! Thrilled for the chance to share our work on building an all-human co-culture of excitatory and inhibitory neurons, astrocytes and microglia to better capture synapse biology in health and disease. A huge team effort driving this forward!

If you are at the GRC on excitatory synapses @nickyscheefhals.bsky.social will be presenting on Wednesday.

Nicky Scheefhals@nickyscheefhals.bsky.social · last yr.

What an incredible week at the GRC on Excitatory Synapses! Thrilled for the chance to share our work on building an all-human co-culture of excitatory and inhibitory neurons, astrocytes and microglia to better capture synapse biology in health and disease. A huge team effort driving this forward!

🎥 MAP2 (green), PSD95 (magenta), inhibitory neuron (blue) @naelnadifkasri-lab.bsky.social lab

New paper alert! How many neurodevelopment disorders would be amenable for ASO treatment? Fabulous PhD student @Kim Wijnant, did the analysis. genomemedicine.biomedcentral.com/articles/10....

Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders - Genome Medicine

Background Neurodevelopmental disorders (NDDs) are a challenging group of disorders to treat, but promising therapeutic interventions in the form of antisense oligonucleotides (AONs) have emerged in r...

genomemedicine.biomedcentral.com

Bart De Strooper giving The EMBO Keynote Lecture - From correlation to mechanisms: how genetics determine your risk of Alzheimer’s disease at #neurogen25 @nereokalebic.bsky.social @harschnitz.bsky.social @humantechnopole.bsky.social @r3rt0.bsky.social

Nael Nadif Kasri @naelnadifkasri-lab.bsky.social exploring the role of the primary cilium in neuronal plasticity and development: How the quiet organelle claims center stage! at #neurogen25 @nereokalebic.bsky.social @harschnitz.bsky.social @humantechnopole.bsky.social @r3rt0.bsky.social

RIP #JanTerlouw. Zijn boeken leerden me lezen, dromen en denken. Dank je wel, Jan.

Bonus result: the lysosome/autophagy pathway surfaced as an important dimension of maturational tempo, in line with our recent work with @naelnadifkasri-lab.bsky.social (study led by @olivieroleonardi.bsky.social & @ellylewerissa.bsky.social) www.biorxiv.org/content/10.1...

CHD2 Dosage Ties Autolysosomal Pathway to Cortical Maturation in Disease and Evolution

The relatively slow pace of cortical development in humans has long been a topic of investigation. Studies seeking to understand the underlying mechanisms have mostly focused on neurogenetic compariso...

biorxiv.org

New paper alert! We performed a systematic analysis of genetic and phenotypic characteristics to identify potential candidate neurodevelopmental disorders amenable for antisense oligonucleotide therapy. Kudos to PhD student Kim Wijnant www.biorxiv.org/content/10.1...

🚨New preprint from @bonevlab.bsky.social 🚨: What are the key epigenetic mechanisms that drive species-specific gene regulation during primate neurogenesis - and how do they contribute to the evolution of the human neocortex? Here’s what we discovered 👇 www.biorxiv.org/content/10.1...

3D Epigenome Evolution Underlies Divergent Gene Regulatory Programs in Primate Neural Development

The expansion of the neocortex is a hallmark of human evolution and is closely linked to neural stem cell biology. Yet, the epigenetic mechanisms driving divergent gene regulation during primate neuro...

biorxiv.org

New paper alert on Inter-individual variation in fusion transcript expression representing an overlooked source of genetic diversity #evolution #disease www.biorxiv.org/content/10.1...

Interested in disease modelling, stem cell models metabolism and novel on-chip technology? Then this might be an exciting project for you. PhD position in now open www.radboudumc.nl/en/vacancies...

Vacancy - PhD candidate | Junior researcher 'Spatiotemporal properties of neuronal metabolofunction using novel on-chip technology'

We are seeking a PhD candidate / junior researcher to develop and apply an innovative on-chip technology platform for integrated neuronal ...

radboudumc.nl

💫 New preprint from the lab: Comparing great ape cerebral organoids, we found that human-specific morphoregulatory signatures in basal radial glia characterise neocortex evolution. Fantastic work from super-talented PhD student Theresa Schütze! www.biorxiv.org/content/10.1...