At #EAN2024 in Helsinki, Prof Henry Houlden explored complex inherited neuropathies, Dr Francesca Magrinelli introduced PSMF1- a novel gene implicated in early-onset Parkinsonism & Dr Viorica Chelban discussed hereditary spastic paraplegia in neurogenetic cases.UCL Queen Square Institute of Neurology European Academy of Neurology

The Neurogenetics Lab ION Francesca Magrinelli Viorica Chelban UCL Queen Square Institute of Neurology European Academy of Neurology Mehri Finnish Neurological Society Suomen Neurologinen Yhdistys Valtteri Kaasinen want also to sincerely thank Prof Houlden for excellent Clinical Grand Round Session at #Ean2024 and our patients for sharing their journeys with thousands of neurologists - thank you Rami Peltosaari 🌹

Stunning Basal Ganglia Club Meeting with Alexandra Durr from Institut du Cerveau - Paris Brain Institute and Paola giunti from Ataxia Centre - UCL Institute of Neurology on Wednesday. Please stay tuned for the next meeting about brain calcifications with Gaël Nicolas and Viorica Chelban on October 9, 2024. UCL Queen Square Institute of Neurology The Neurogenetics Lab ION

Thrilled to present at the annual GP2 meeting in KL, Malaysia! It was fantastic to update everyone on our CAT-PD project, reconnect with colleagues, and win the best poster competition with Dr. Mariam Isayan. Thanks to GP2 and MJFF for their incredible support!@CAT_Genomics

Delighted to share my first 1st author paper, now published in Neurology Genetics! neurology.org/doi/10.1212/NX… This research stems from my Master's project at UCL Neurogenetics Lab. Thank you Stephanie Efthymiou, PhD AFHEA🇨🇾🇬🇧 and Prof. Henry Houlden! The Neurogenetics Lab ION Neurology Journal

Congratulations to Dr Mariam Isayan for winning the best poster prize at GP2 meeting in Malaysia “Unraveling the Genetic Architecture of Parkinson’s Disease in the Central Asian & Transcaucasian Population: A Preliminary Study” UCL Queen Square Institute of Neurology UCL Brain Sciences UCL Global Engagement michaeljfox.org

Kudos to Dr Sarah Beecroft who 1st ID this repeat. CCG expansions in the 5’UTR of ABCD3 cause OPDM, a progressive MD that affects the eyes, muscles involved w speaking & swallowing. Huge collaborative effort, incl co-leads at UCL Queen Square Institute of Neurology Enrico Bugiardini nature.com/articles/s4146…

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 🧬

We were delighted to collaborate with JepsonLab_UCL for this year’s summer work experience placement with The Social Mobility Foundation. We welcomed a group of 16-18 year old students who were excited to learn about Neurogenetics & using flies to study brain diseases. UCL Queen Square Institute of Neurology UCL Brain Sciences

Dr Rauan Kaiyrzhanov presented to students from The Social Mobility Foundation on the importance of studying underrepresented populations, such as Central Asia. He highlighted how this research advances our understanding of the genetic underpinnings of Parkinson's disease. @MJFF UCL Queen Square Institute of Neurology

Dr. Rauan Kaiyrzhanov advocates for establishing a national brain biobank in Kazakhstan to advance research on neurodegenerative diseases like Parkinson's and Alzheimer's. UCL Queen Square Institute of Neurology UCL Brain Sciences michaeljfox.org Central Asian & Transcaucasian Genomics (CATG) Rauan Kaiyrzhanov Read more: bit.ly/4dGq24w

Our latest study links biallelic PNPLA8 variants to a range of pediatric neurodegenerative disorders, with clear genotype-phenotype correlations. It reveals how PNPLA8 loss disrupts key brain cells, potentially leading to microcephaly, and offers insights for potential therapies.

Excited to share our correspondence in The Lancet Neurology, reporting updates from the CAT-PD project, which investigates Parkinson's disease genetics in Central Asia & Transcaucasia.Central Asian & Transcaucasian Genomics (CATG) UCL Brain Sciences michaeljfox.org The Neurogenetics Lab ION UCL Global Engagement bit.ly/46PJU37

Our collaborative paper on understanding the role of DENND5A gene in brain development and its link to Developmental and Epileptic Encephalopathy (DEE) is now online in Nature Communications. nature.com/articles/s4146… Emily Banks led this project from Peter McPherson's lab

Congratulations to our CAT-PD project member Dr Mariam Isayan, a neurologist and GP2 trainee from Armenia for receiving the GP2 Under-represented Populations Master's Program scholarship to undertake studies in Data Science at the University of Maryland Baltimore County. UCL Queen Square Institute of Neurology

Happy to share our last study about patients with NOTCH3 biallelic variants! thelancet.com/journals/ebiom… Reza Maroofian The Neurogenetics Lab ION CESAR ALVES Rahema

New study highlights the need for standardized gastrostomy practices in atypical parkinsonian syndromes, including MSA. Delayed decision-making and variability in current approaches are major concerns. More research is crucial The Neurogenetics Lab ION MSA Trust doi.org/10.1002/mdc3.1…

Professor Henry Houlden and Dr Viorica Chelban at University College London are seeking a Research Technician to work on multiple system atrophy. Viorica Chelban The Neurogenetics Lab ION. Closing date: 26th September. dementiaresearcher.nihr.ac.uk/job/research-t…

Our new study identifies a complex structural rearrangement at the KCNJ2-SOX9 locus linked to severe jaw misalignment with gum overgrowth in a four-generation family. Using SNP-array, exome, & long-read sequencing, we reveal a novel chromothripsis-like event. Oxford Nanopore RDM Oxford

A lack of diversity in genomic studies for dementia could limit the effectiveness of targeted therapies in underrepresented populations, finds research by experts including Profs Henry Houlden and Sir John Hardy, and Drs Mie Rizig and Maryam Shoai UCL Queen Square Institute of Neurology ucl.ac.uk/news/2024/sep/…