Great collaborative effort! Special thanks to Andrea Cortese for his excellent work. More to come! UCL_QS_CNMD UCL Queen Square Institute of Neurology The Neurogenetics Lab ION

Read all about our novel findings relating to the genetics, biochemistry, and molecular biology of TRMT1-linked ID and NDD syndrome. A great collaboration between our lab The Neurogenetics Lab ION and the @dragonyFu lab and Gaurav Varshney 🧬

Well done Dr Natalia Dominik, well deserved PhD & I am very proud of all your hard work 👏🏻 always a pleasure working with you in the lab & being your supervisor (my first PhD student 🥰) The Neurogenetics Lab UCL ION Natalia Dominik lovely to see you guys #maternity #babyGeorgeatQS

7. Nöromuskuler hastaliklar kongresi bugün genetik kursuyla Nevşehir Avanos'da başladı. Kongre de Henry Houlden de çok güzel bir konferans verdi.The Neurogenetics Lab UCL ION MovementDisordersUCL Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧 Reza Maroofian Henry Houlden

Come and join the lab! we have a position available to work on the analysis of short and long-read DNA and RNA sequencing from patients with repeat expansion diseases jobs.ac.uk/job/DLG312/bio… #RepeatExpansionDisorders #RepeatExpansions #C9orf72

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!

Renee Lin from my team and Prof Paola Nicolaides presenting a genetic and clinical overview from 162 NCBRS patients at the BPNA #BPNA2025 conference NCBRS Worldwide Foundation - Nicolaides Baraitser The Neurogenetics Lab UCL ION 🧬

For #RareDiseaseDay2025, The Neurogenetics Lab ION 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/…

Earlier this year we held the first global #NARS1 family meeting with the The Rory Belle Foundation where the Board shared updates on the research progress made and the recent funding awarded, also to our team to generate iPSC neuronal models 🧬 2025 will be exciting for NARS1!

So proud to host the first NARS1 Patient Day this week, we had a very engaging day with research updates from our team, interactive discussions with families, and introducing the Foundation to the lab and the work we are conducting to develop future therapies at the UCL Queen Square Institute of Neurology

Read all about the biggest TRMT1-related NDD patient cohort where loss of tRNA modifications cause disruptions in cell cycle and immune response leading to neurodevelopmental deficits evident in human cells and zebrafish!

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 🇩🇪 🧬

It is a privilege to contribute to the advancement of genomic innovations for rare disease expert centers across Europe, including in my home country, Cyprus

Excited to be in Chicago this week to connect with collaborators and meet with rare disease patient groups. Always inspiring to see science and community come together to push the field forward. #RareDisease #Genetics #Collaborations

Honored to attend the Jack Bear Foundation fundraising event last week. Meeting Jack who presents with a rare form of ataxia reminds me why we do this work, fighting for therapies that truly make a difference. Very excited to start on our project 💛 #RareDisease #AtaxiaAwareness

It has been an absolute joy having you in the lab Zane Lim. You brought energy and dedication to your project and I am sure your efforts will be rewarded. I have no doubt you will excel in your next steps, I wish you every success with your applications to graduate school 🧬

🎉 Huge congratulations to Dr. Busra Aynekin and Dr. Umran Yaman for receiving presentation awards at the Turkish Neuromuscular Diseases Congress in İzmir! 👏👏 A fantastic recognition of their hard work and contributions to the neuromuscular field. 💪🧠✨

The true mark of a teacher’s success is when students don’t just learn from us-they rise beyond us. That’s not failure, it’s the highest form of impact. So wise Alan Michael Pittman 💙 Daniel Osborn

Had a great time attending #ASHG2025 in Boston, this year with my little boy 👶🏼 Loved catching up with old friends and colleagues, and getting new knowledge and discussions with inspiring scientists 🧬