Check out our new findings showing BRD4's role in preventing the premature activation of developmental transcription factors via #Polycomb, providing new mechanistic insights into the pathogenesis of neurodevelopmental disorder #CdLS #NDDs, #chromatinopathies www.biorxiv.org/content/10.6...

Small nuclear RNA genes in Mendelian disorders - Nature Genetics This Review discusses the high-impact variants in 12 small nuclear RNA genes that cause Mendelian disorders with either autosomal dominant or recessive inheritance patterns, highlighting the…

🧬Pathogenic variants in snRNA genes seem to be a more frequent cause of Mendelian disorders than previously thought, with major relevance for #NDDs and retinal disease.

This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...

Moreover, we argued that TR genes important for human evolution also show #haploinsufficiency and are involved in neurodevelopmental disorders #NDDs, incl. intellectual disability (ID), #autism, and #schizophrenia.

Recently, more evidence has been emerging that supports this hypothesis:
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Fully funded #PhD position in the RDND lab, with the MMG Simpson Lab, through the 2026 MRC DTP. Applications open October 8th.
tinyurl.com/rdnd-mrcdtp
@kingslsm.bsky.social @kingscollegelondon.bsky.social

🧬 🧠
#MedicalResearchCouncil #MRCDTP26
#PhDstudentship #FundedPhD
#genetics #Genomics #NDDs

🚀 #IT delivery💉bypasses the #BBB, sending #ASOs 🧬, #GeneTherapies 🧑‍🔬, #Antibodies 🛡️ & #StemCells 🌱 straight into the #Brain! A lifeline for #NDDs? @mdpiopenaccess.bsky.social #NeuroTech #BrainResearch
👉 doi.org/10.3390/biom...

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization - European Journal of Human Genetics European Journal of Human Genetics - Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

New in @ejhg-journal.bsky.social 📢

Comprehensive phenotypic and genotypic characterization of CNOT3-related neurodevelopmental disorders #NDDs:
🧬 51 patients from 42 families
🔍 28 novel variants
📍 Missense variants clustered in key functional domains

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

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...

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...

Maternal Inflammatory Proteins in Pregnancy and Neurodevelopmental Disorders at Age 10 Years This cohort study evaluates whether maternal inflammatory proteins during pregnancy are associated with the risk of neurodevelopmental disorders and executive functions in middle childhood.

shorturl.at/BM7HI New research links #maternal inflammatory proteins during pregnancy to increased risk of neurodevelopmental disorders (#NDDs) in children by age 10. #MaternalHealth #NDDs #brain #mentalhealth #BrainAwarenessWeek #neuroscience #autism

New preprint from the lab. This one is (again) about about modelling neurodevelopmental disorders. Here, we focus on the link between chromatin remodellers (ADNP and CHD4) and cortical development. #NDDs and #cortical development. www.biorxiv.org/content/10.1...