UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).

UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).

The latest Neuromuscular Diseases (NMD) Research Day took place in November 2025, bringing together clinicians, researchers, and partners to strengthen the future of NMD research.

Biallelic variants in CHKA, which encodes the first enzyme in the CDP-choline pathway for the synthesis of phosphatidylcholine, cause an inherited disorder characterized by epilepsy, microcephaly, and...

Despite an estimated 100,000 people living with ALS in India, South Asian populations have been largely excluded from global genetic studies of the disease. This gap isn’t just a statistical oversight...

UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).

Scientific Reports - Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish

We identify bi-allelic variants in TRMT1, encoding a tRNA-modification enzyme, that cause intellectual disability and developmental delay. Functional studies in human cells and zebrafish provide insig...

We identify bi-allelic variants in TRMT1, encoding a tRNA-modification enzyme, that cause intellectual disability and developmental delay. Functional studies in human cells and zebrafish provide insig...

Abdel-Hamid et al. identified biallelic GTF3C3 variants in four individuals with neurodevelopmental disorders, including developmental delay/intellectual d

Kaiyrzhanov et al. provide a cumulative phenotype characterization of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13 (NDUFA13)-related disease descri

Sequencing 8 individuals with intellectual disability identified bi-allelic variants in KICS2, which encodes a component of the KICSTOR complex. A combination of in vitro and in vivo analyses demonstr...

Zhang et al. elucidate the targets of a tRNA modification enzyme family and identify unanticipated roles for a duplicated tRNA modification enzyme that can be uncoupled from its ancestral function. These findings uncover the molecular mechanisms by which tRNAs are dysregulated in human disorders caused by tRNA modification deficiency.

Online registration for MSA Research Symposium.

Nature Genetics - Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia