Reza Maroofian

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.

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.

🚨 We’re hiring a highly motivated Postdoc! Join us at @UCLIoN 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…

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

Join our team at @UCLIoN 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 @UKDRI @UCLBrainScience @LRS_UCL

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.

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

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

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…

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…

thelancet.com/journals/ebiom…

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:

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

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/….

For #RareDiseaseDay2025, @IonSynapse 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/…

As part of 2 parallel studies, we delineated a new subtype of neurodevelopmental disorder linked to biallelic GTF3C3 variants. One study models the disorder using zebrafish, while the other utilizes fly. Check both papers below: academic.oup.com/braincomms/adv… & sciencedirect.com/science/articl….

NDUFA13, a mitochondrial complex I subunit, was linked to complex I deficiency in only 3 patients. We now report 10 more, expanding the phenotypic spectrum, consolidating its role, & comparing it with other complex I deficiency subtypes. Check our paper: academic.oup.com/braincomms/art…

Back in 2013, we identified KPTN as a cause of NDD, though its function was unclear. By 2017, it was revealed as part of KICSTOR complex alongside KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next. cell.com/ajhg/fulltext/…

TRMT1 & TRMT1L modify tRNAs, essential for protein production. Their modifications are crucial for tRNA stability & function. Biallelic TRMT1 variants are linked to intellectual disability, while TRMT1L variants lead to a recessive neurodegenerative disorder. Check our new paper!

In 2021, we identified a rare VWA1 founder mutation in UK & Western European populations, linked to neuromuscular disorder but elusive due to low genomic coverage. We now report an expanded phenotypic spectrum in a global cohort with this recurrent mutation & other VWA1 variants.