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

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...

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

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

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...

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:

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...

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...

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

Join us at UCL ION on Thurs 27th March for an afternoon on how @nanoporetech.com & VarSome are reshaping diagnosis of NDDs and other brain disorders through sequencing & variant interpretation. 🧬🧠 @uclbrainscience.bsky.social @uclqsion.bsky.social share.hsforms.com/1XQaCRGiVQuG...

At MSA Health & Care Professionals Study Day, Prof Henry Houlden provided an overview of MSA offering key insights for healthcare professionals. Dr Yee Yen Goh presented on how to diagnose MSA in patients, outlining key clinical markers & diagnostic approaches. @uclqsion.bsky.social

This week, members of our lab attended LifeArc MND & Rare Dementias Science Summit, highlighting advances in NDD research. The event emphasised collaboration in driving meaningful progress across therapeutic discovery, early diagnosis & digital solutions. 🧠 @uclqsion.bsky.social @lifearc.bsky.social

For #RareDiseaseDay2025, @qs-neurogenetics.bsky.social 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/202...

Members of our lab hosted a live Q&A for families affected by VAMP2-related disorder, bridging the gap between research and those impacted. First identified at UCL in 2019, this ultra-rare condition remains a key focus of our work! bit.ly/3Xgzmqi @uclbrainscience.bsky.social @uclqsion.bsky.social

🎙️ Meet the Speaker: Prof. Wassilios Meissner Join us at the MSA Symposium! Prof. Meissner’s talk on Distinct Progression Profiles in MSA will open an important discussion on MSA progression & its implications for treatment. 🔗 Sign up now: bit.ly/4bc61D7 @uclqsion.bsky.social

Members of our lab attended the Festival of Genomics & Biodata 2025 recently which was a great opportunity to connect, share ideas and stay updated on the latest in genomic research. Looking forward to integrating new insights into our ongoing work! @uclbrainscience.bsky.social @uclqsion.bsky.social

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/a... www.sciencedirect.com/science/arti...

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

Read all about our Neurogenetics Lab's collaboration with Little House of Science to host an engaging day of neuroscience and genetics for 96 children aged 4-13, igniting a passion for science among young minds! ucl.ac.uk/ion/news/202... @qs-neurogenetics.bsky.social

Check out the latest article from the ION-DRI Newsletter about our lab. Learn more about our ongoing research & the work we're doing to better understand the genetic mechanisms behind neurological diseases! 🧬🧠 @uclqsion.bsky.social @uclbrainscience.bsky.social www.ucl.ac.uk/ion-dri-prog...

In 2013, we identified KPTN as a cause of NDD, though its function was unclear at the time. By 2017, it was shown to be part of the KICSTOR complex with KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next in line. www.cell.com/ajhg/fulltex...

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 neurodegenerative disorder. Check our new paper! www.cell.com/cell-reports...

We report 35 patients with biallelic RBL2 loss-of-function variants presenting with developmental delay/intellectual disability, hypotonia, seizures, microcephaly & brain abnormalities. Drosophila models recapitulate key features & suggest RBL2 re-expression may help rescue neurological symptoms.

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.

Join us for the 3rd MSA Research Symposium on Fri 25th April 2025, focused on the prodromal stage, diagnosis & management of MSA. Hear from experts Dr. Horacio Kaufmann, Prof. Tom Foltynie & Andrew Singleton. Register now for early bird tickets! bit.ly/3Du72tb @uclbrainscience.bsky.social

Dr Viorica Chelban recently attended the PMFG Summit in Doha, Qatar where she presented latest advancements in Neurogenetics & Rare Diseases @uclbrainscience.bsky.social #PMFG2024

Merry Christmas from our lab! 🎄 Wishing everyone a joyful and well-deserved Christmas break, filled with peace and happiness. Here’s to a fantastic start to 2025 – we can’t wait to see what the year ahead brings! 🥂✨ @uclbrainscience.bsky.social @uclh.bsky.social

A fantastic evening at the annual UCL IoN Christmas Drinks, celebrating this year’s achievements and reconnecting with colleagues from across the Institute. Wishing everyone a Merry Christmas!🎄🥂 @uclbrainscience.bsky.social @uclh.bsky.social

Pioneering genomic insights into rare pediatric neurological diseases in Central Asia & Transcaucasia! Our Nature Genetics correspondence highlights the CAT-Genomics consortium's impact in underrepresented regions, advancing diagnoses & novel discoveries. bit.ly/3V6lUE3