A recent visit to @qs-neurogenetics.bsky.social brought together a rare disease family, clinicians and researchers highlighting the growing international effort to better understand Nicolaides-Baraitser syndrome (NCBRS). www.ucl.ac.uk/brain-scienc...

Thrilled to announce three new UK DRI Group Leaders, joining the recently established Parkinson's Research Centre in partnership with @parkinsons.org.uk 🎉 👏 Prof Laura Parkkinen (Oxford) 👏 Prof Peter Magill (Oxford) 👏 Prof Henry Houlden (UCL) Read more 👉 www.ukdri.ac.uk/news-and-eve...

Dr Lorenzo Perilli presented “Expanding the Genetic Landscape of cHSP: Clinical Evidence for SYNRG as a Novel Disease Gene” at 9th International symposium of paediatric movement disorders in Barcelona. @uclqsion.bsky.social @uclbrainscience.bsky.social

We’re hiring a Research Technician! 🔔This role will primarily support a project on the genetic studies of Parkinson’s disease in Central Asia and Transcaucasia, helping to address major gaps in PD genetics in under-represented populations. @uclqsion.bsky.social bit.ly/4tzl9mM

Congratulations to Henry Houlden on his Appointment as Group Leader, UK DRI Parkinson's Research Centre (PRC), based at UCL. The Group Leader role will enable scientific research and develop the PRC as an international beacon in Parkinson's research [UK DRI programme award £1.7M over 5 years.]

Congratulations to Natalia Dominik on receiving a Guarantors of Brain non-clinical postdoctoral fellowship for 3 years from October 2026.

By combining human genetics with functional studies, we demonstrate that homozygous loss-of-function variants in MDGA2 impair synaptic membrane trafficking and neuroligin-mediated signalling, causing a severe form of developmental and epileptic encephalopathy @uclqsion.bsky.social

The American Journal of Human Genetics@ajhgnews.bsky.social · 7mo ago

📣 Online now! 📄MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy 🧑‍🤝‍🧑 @hmorsy.bsky.social @reza-maroofian.bsky.social & co www.cell.com/ajhg/fulltex...

Congratulations to Stephanie Efthymiou on successfully being awarded a NBA small acorns fund - 'Validating exosomal RNA profiling methods in plasma and CSF of patients with multiple sclerosis', starting in January 2026

Congratulations to Karen Gunanayagam on successfully being awarded a Guarantors of Brain Clinical Fellowship, starting in April 2026.

Please spread the word! Great opportunity for bioinformatician to join us at the world-leading UCL Institute of Neurology in London, UK, to research genomics of inherited neuromuscular diseases. www.ucl.ac.uk/work-at-ucl/...

What a fantastic evening at our Christmas Drinks Reception! 🥂 Progress in neurogenetics is only possible through deep cross-sector collaboration. Thanks to Nanopore for sponsoring, and to everyone who joined and continues to build this mission with us! 🌍🧠 @uclqsion.bsky.social @nanoporetech.com

We were delighted to host our Christmas Drinks Reception sponsored by Oxford Nanopore, bringing together partners, ambassadors, funders & charities shaping our global neurogenetics work. Grateful to all who joined us & excited for continued progress in 2026! @uclqsion.bsky.social @nanoporetech.com

Professor Henry Houlden & Dr Karen Gunanayagam recently visited Dhaka and Bogura, providing specialist neurogenetics teaching and attending clinics as part of our active clinical and research partnership in Bangladesh 🇧🇩 @uclqsion.bsky.social @uclbrainscience.bsky.social

UCL Queen Square Institute of Neurology Hosts Neuromuscular Diseases Research Day 2025. A fantastic day bringing together clinicians, researchers and trainees to share insights and celebrate progress in NMD research. 🧠 @uclqsion.bsky.social @uclbrainscience.bsky.social Read more: bit.ly/48N8tPI

A wonderful evening at the DNMD Christmas Drinks, bringing together colleagues from across the department. Thank you to everyone who joined us and best wishes for a well-deserved break and a happy festive season. 🎄🥂 @uclqsion.bsky.social @uclh.bsky.social @uclbrainscience.bsky.social

📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...

We previously characterised recessive CHKA-related developmental & epileptic encephalopathy. This new work shows patient-derived cells have disrupted Kennedy pathway activity, mitochondrial dysfunction and oxidative stress—partially rescued by mitochondrial uncoupling. www.jbc.org/article/S002...

Neurodevelopmental Disease-causing Variants in Choline Kinase CHKA Gene Couple Phosphatidylcholine Synthesis to Oxidative Stress Damage and Disease Etiology

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...

jbc.org

We had a wonderful time at UCLH’s Research Open Day! It was a pleasure connecting with patients, families and the wider public to share a glimpse into how we’re using cutting-edge techniques to study the genetics of neurological conditions. 🧠🧬🔬 @uclh.bsky.social @uclqsion.bsky.social

Members of our lab had a fantastic time at the QS CNMD Summer Drinks - a wonderful opportunity to reconnect with colleagues and meet new faces from across CNMD community. Huge thanks to the QS CNMD consultants for hosting! 🥂 @uclqsion.bsky.social @uclqsneuromuscular.bsky.social

Members of the Houlden Lab at UCL Queen Square IoN recently took part in the Celebrating Research at UCLH Open Day! It was a fantastic opportunity to connect with patients, families, and the wider public - sharing the latest advances in neurogenetics. #UCLHResearch #Neurogenetics

Dr Rauan Kaiyrzhanov presented at the International Conference of Pediatric Neurology (ICPN) in Cairo 🇪🇬, sharing expert insights on movement disorders in DEEs. He also led seminars and in-depth discussions on rare neurological disease cases with Egyptian collaborators. @rauankaiyrzhanov.bsky.social

Prof. Henry Houlden was in Boston recently for the launch of a landmark ALS genetics study in India led by NIMHANS, AIIMS & UCLION in partnership with TargetALS. 🇮🇳 Read more: bit.ly/40ohafF @uclqsion.bsky.social @uclbrainscience.bsky.social

Unlocking ALS Risk in South Asian Populations: Inside a Groundbreaking Genetic Study Led by India and the UK - Target ALS

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...

bit.ly

Join our team at UCL ION 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 @uclqsion.bsky.social @ukdri.ac.uk @uclbrainscience.bsky.social

UCL – University College London

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).

bit.ly

Natalia Dominik, NIHR BRC Research Fellow recently volunteered with Genetics Society at the Lambeth Country Show. Through hands-on activities like building chromosomes & the PTC taste test, she engaged the public in genetics, highlighting the vital role of science outreach. @uclqsion.bsky.social 🧬

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 with ataxia. www.nature.com/articles/s41...

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

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

nature.com

We previously reported a novel recessive pediatric neurodegenerative disorder linked to BORCS8. Now, we identify another BORC complex subunit, BORCS5, as a new disease gene causing a broader neurodevelopmental & neurodegenerative spectrum with clear genotype–phenotype correlation. Read the preprint:

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction https://www.medrxiv.org/content/10.1101/2025.04.30.25326597v1

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

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

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...

cell.com

Our Collaborative work on TRMT1, a tRNA-modifying enzyme, is out in @ajhgnews.bsky.social. A team of human geneticists led by Drs. Houlden' @qs-neurogenetics.bsky.social and Dragony Fu' labs identified 43 individuals from 31 families with biallelic TRMT1 variants. www.cell.com/ajhg/fulltex...

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

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...

cell.com

The Neurogenetics Lab recently welcomed families from around the world for a dedicated Patient Engagement Day focused on NARS1-related neurodevelopmental disorders, in collaboration with Rory Belle Foundation @qs-neurogenetics.bsky.social @rahema-ucl.bsky.social www.ucl.ac.uk/ion/news/202...

Recently at Brain Conference, Dr. Viorica Chelban co-chaired a session on Movement Disorders with Prof. Nick Wood, while Lottie McKay-Dalton & Reagan Lee presented posters on how pathogenic variants in glutamate & potassium ion channels contribute to NDDs. @uclqsion.bsky.social