For #RareDiseaseDay2025, The Neurogenetics Lab ION is celebrating the invaluable contributions of our international collaborators, whose dedication is driving ground-breaking advancements in rare disease research across the globe. ucl.ac.uk/ion/news/2025/…

Our lab characterises the autosomal recessive TRMT1-related neurodevelopmental disorder through a large cohort, patient cells, and zebrafish—linking defective tRNA methylation to intellectual disability and expanding the emerging group of "tRNAopathies". cell.com/ajhg/fulltext/….

📣New from Exeter Rare Disease & co! 📄Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation cell.com/ajhg/fulltext/…

We previously reported a novel recessive paediatric neurodegenerative disorder linked to BORCS8. Our latest study identifies BORCS5 as a new NDD gene, showing a broader neurodevelopmental and neurodegenerative spectrum with clear genotype–phenotype correlation. Read the preprint:

thelancet.com/journals/ebiom…

Proud to present our work identifying a role for DIAPH1 and gamma-actin in regulating DSB repair and how defects in this pathway give rise to human disease. Big thanks to everyone involved, especially Beth Woodward, Sudipta Lahiri and Anoop Chauhan. nature.com/articles/s4146…

Loss of XRCC1 disrupts cerebellar development in zebrafish due to toxic PARP1 accumulation. Strikingly, parp1 knockdown rescues the XRCC1 phenotype, supporting PARP1 inhibition as a potential therapy in recessive XRCC1-related neurodegenerative disorders. nature.com/articles/s4159…

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci nature.com/articles/s4143… #hvhebron #neuroped

Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons dlvr.it/TLCP5L

We define the critical role of the LGI1–ADAM22/23 pathway in developmental & epileptic encephalopathy (DEE)—essential for regulating synaptic transmission and brain excitability. Previously linked ADAM22 to DEE, now we report biallelic LGI1 & ADAM23 variants causing lethal DEE.

Join our team at UCL Queen Square Institute of Neurology as a Senior Research Technician and Analyst for Next Generation Sequencing 🧬 Play a key role in advancing neurogenetics research through cutting-edge sequencing. Apply now: bit.ly/44h3XX8 UK Dementia Research Institute UCL Brain Sciences UCL Long Read Sequencing Service

The dystonin gene encodes three major isoforms: DST-a, -b, and -e. Jacob et al. report that variants exclusively affecting DST-b cause an autosomal recessive congenital myopathy, while variants that also affect DST-a cause a lethal contracture syndrome. tinyurl.com/3p99pu9j

🚨 We’re hiring a highly motivated Postdoc! Join us at UCL Queen Square Institute of Neurology to study the neurobiology of PSMF1, a new gene linked to Parkinson’s & neurodegeneration. Expertise in: 🔬 hPSCs 🧪 Neuronal/organoid modelling 📅 Apply by 16/07 📩 [email protected] 🔗 shorturl.at/zVuPJ

We define the recessive ELOVL1-related disorder, part of an emerging group of neurocutaneous syndromes caused by biallelic ELOVL1/4 variants. Monoallelic ELOVL1/4/5 variants lead to spastic paraplegia & ataxia. These genes encode enzymes that elongate very-long-chain fatty acids.

Our new study characterises ELFN1 deficiency as a novel autosomal recessive neurodevelopmental disorder marked by epilepsy, GDD/ID, & movement disorders. Biallelic ELFN1 variants disrupt synaptic protein trafficking—validated through functional assays and mouse/zebrafish models.

12 yrs ago, we identified a homozygous AIRIM variant in a large NDD family—more families followed, but the gene’s function remained unknown. Over the decade, AFG2A & AFG2B were linked to similar phenotypes. Now we know they all form a complex with CINP, key to ribosome biogenesis

Biallelic PDE1B variants cause a novel early-onset movement disorder with hypotonia, dystonia/ataxia, developmental delay & intellectual disability—paralleling PDE10A deficiency & underscoring cAMP/cGMP signaling in basal ganglia. Read the full study here: …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

New Job Alert! 🔔Join our neurogenetics team UCL Queen Square Institute of Neurology as a Research Technician - a fantastic opportunity to gain hands-on experience with long-read sequencing, cell culture & more while supporting cutting-edge projects on neurological disorders. Apply now: bit.ly/45FrIKm

From our recent work on BORCS5 to BORCS8—and now BLOC1S1 as the latest culprit in the BORC/BLOC-1 pathway—"BORCopathies" are emerging. Biallelic BLOC1S1 variants impair lysosome transport & autophagy in neurons, causing a severe brain disorder with hypomyelination & epilepsy.

Now available online the August episode of GenePod! Learn more about how Rhys Dore and his team gathered patients with variants in ELFN1 from around the world bit.ly/4lxRNzH