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It was great to attend PacBio Prism in Athens this week and hear from leading experts about the latest developments in long-read sequencing. Inspiring to see how researchers & clinicians are applying LRS technologies to bring real answers to patients especially in rare & complex

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:

⏳ Looking forward to the upcoming Queen Square Basal Ganglia Club Meeting on Neurogenetics of Movement Disorders with Prof. Valente from Università di Pavia & Prof. Klein from Universität Lübeck. NHNN, May 21, 4 PM. All welcome. Please RT Kailash Bhatia, Clinical and Movement Neurosciences @ UCL IoN MovementDisordersUCL UCL Queen Square Institute of Neurology

thelancet.com/journals/ebiom…

🗓️ Mark your calendars! Join Toby Curless, Alzheimer’s Research UK PhD Student & UCL Dementia MSc alumnus, for a Reddit AMA on r/iAmA. 🧠 📅 19 May ⏰ 3-5pm BST Ask about his MSc Dementia experience, PhD journey, and current research! #RedditAMA #DementiaResearch UCL Queen Square Institute of Neurology

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…

Natalia Dominik, NIHR BRC Research Fellow recently volunteered with The 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. UCL Queen Square Institute of Neurology 🧬

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.

Honoured to take part in the Advanced Neuroscience School in Moldova🇲🇩. A meaningful collaboration between UCL Queen Square Institute of Neurology, UCL Brain Sciences, State University of Medicine and Pharmacy and Moldova’s neuroscience community. Grateful for the warm welcome and shared commitment to advancing brain health together.

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

Prof. Henry Houlden was in Boston recently for the launch of a landmark ALS genetics study in India led by NIMHANS, AIIMS & UCL Queen Square Institute of Neurology in partnership with TargetALS. 🇮🇳 Read more: bit.ly/40ohafF UCL Brain Sciences Target ALS

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. UCL Queen Square Institute of Neurology

🚨 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

Great talk by Nathan Routledge from UCL Queen Square Institute of Neurology UCL_QS_CNMD on his Myositis UK-funded PhD: exploring disease pathways for IBM stratification and therapy. Delighted to be at the Myositis UK annual meeting - an event I’ve proudly contributed to for over a decade! #Myositis #IBM

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 team. Huge thanks to the QS CNMD consultants for hosting! 🥂 UCL_QS_CNMD UCL Queen Square Institute of Neurology UCL Brain Sciences

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. 🧠🧬🔬 UCL Queen Square Institute of Neurology UCL Brain Sciences UCLH

Its been inspiring to meet so many neuroscientists at the EPNS Congress in Munich, both old and new colleagues and friends interested in child neurology, genetics and neuroscience 🇩🇪 🧬

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.

Honoured to present preliminary results of cumulative phenotyping of ACER3-related disease in 60 patients at European Academy of Neurology & EPNS this summer on behalf of the ACER3-study group. This work underscores the power of global data sharing in rare disease research.The Neurogenetics Lab ION

Members of our lab at the UCL Queen Square Institute of Neurology Summer Drinks 2025 yesterday at October Gallery - always a pleasure to catch up with colleagues from across the Institute! 🌞🥂 UCL Brain Sciences UCL_QS_CNMD UCL Long Read Sequencing Service UCLH