Happy to share our latest paper where we compare two techniques for measuring contracted allele size in FSHD disease – Southern blotting and Bionano Optical Genome Mapping. ICGNMD The Neurogenetics Lab ION FSHD Leiden vishnu v y Enrico Bugiardini Prof Michael Hanna mdpi.com/2218-273X/13/1…

📢Come join our mitochondrial team at Queen Square! Robert Pitceathly Prof Michael Hanna Chiara Pizzamiglio Enrico Bugiardini Will Macken We are looking for a full-time clinical fellow. If you're passionate about advancing healthcare and making a difference, apply now! uclh.nhs.uk/work-with-us/c…

Great MDCRN meeting to advance treatments for myotonic dystrophy, limb girdle muscular dystrophy and facioscapulohumeral muscular dystrophy! Children's Hospital of Richmond at VCU VCU Neurology & Neurosurgery MyoStrong CureCalpain3 FSHD Society

QS FSHD team at Richmond for the annual FSHD CTRN meeting. Great to meet friends, colleagues and discuss exciting results of ongoing studies for #fshd trial readiness UCL_QS_CNMD FSHDUK

Introducing the FSHD UK Research Team #research #fshd #uk #md #musculardystrophy #clinicaltrials #fshduk

I am speaking at the #FOG2024 today at the Discovery Stage (#Bionano sponsored session) about out recent validation study using OGM to diagnose and characterise FSHD from ICGNMD project UCL Queen Square Institute of Neurology. 🧬

Thank you to Bionano and The Festival of Genomics & Biodata for the kind invitation but also the UCL team for supporting this work The Neurogenetics Lab ION Enrico Bugiardini Prof Michael Hanna and collaborators vishnu v y FSHD Leiden

Dr Andrea Cortese, Research Group Leader UCL Queen Square Institute of Neurology presenting “Optical genome mapping in inherited neurological diseases” at Festival of Genomics & Biodata 2024, session sponsored by Bionano #FOG2024 Front Line Genomics UCL Brain Sciences UCL_QS_CNMD

Exciting Opportunity! Join our team as a Clinical Fellow in Neuromuscular Diseases UCL_QS_CNMD. Contribute to cutting-edge research on FSHD, IBM, and mitochondrial diseases. UCL Queen Square Institute of Neurology Pedro Machado Robert Pitceathly Apply here 👉uclh.nhs.uk/work-with-us/c…

Excellent career development opportunity with a supportive team! Possibility to discuss future PhD projects and fellowship applications for those pursuing academic opportunities. UCL_QS_CNMD UCL Queen Square Institute of Neurology UCL Brain Sciences NIHR UCLH Biomedical Research Centre Apply by 13/02/2024 👇

Big congratulations to Jodi Allen for this fantastic paper with colleagues & patient co-authors at UCL_QS_CNMD UCL UCLH on what it is like to live with dysphagia due to myotonic dystrophy 👏🏼👏🏼 content.iospress.com/articles/journ…

Exciting experience presenting on current therapeutic advancements in #FSHD #MDAconference. It was a pleasure meeting colleagues and discussing ongoing research in FSHD. UCL_QS_CNMD FSHD Society FSHDUK Muscular Dystrophy UK

Don't miss out - Early Bird rates end this week for UK Neuromuscular Translational Research Conference! 17th and 18th April 2024 See the latest programme and register here bit.ly/3GOXhUY

ICGNMD publishes1st Indian FSHD cohort nature.com/articles/s4143… AIIMS, Delhi, Leiden University Medical Centre & UCL London show overlapping but distinct FSHD genetics compared to Europe, underscoring importance of global rare disease research vishnu v y Enrico Bugiardini FSHD Leiden

Great team work to explore FSHD genetics in India. Many thanks to FSHD Leiden group- Richard Lemmers, Patrick and Silvere vd Maarel and UCL team Enrico Bugiardini Stephanie Efthymiou, PhD AFHEA🇨🇾🇬🇧 Will Macken Prof Michael Hanna and our fellows at AIIMS Alisha, Rinkle and Tanveer and our mentor Prof.Padma.

Thank you FSHDUK ! It was great organising this patient engagement day together. I was thrilled to see so much interest and participation.UCL_QS_CNMD FSHD Society

This event is on tomorrow at Queen Square! Turn right after the NHNN reception desk & follow your nose to find us 🍰 #thelilyfoundation #thinkmito #lilycommunitea

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

Researchers UCL Institute of Ophthalmology have revealed tissue-specific somatic instability underlies a common age-related cause of visual loss. Translationally relevant findings for repeat-expansion mediated diseases #OpticalGenomeMapping #RepeatExpansions Read #openaccess👇 tinyurl.com/e9c6ukjz

Inspiring days at the FSHD CTRN meeting in Richmond discussing strategies for clinical trial development. Great presentations from the FSHD UCLH team - Iwona Skorupinska and Jose Mengibar! #fshd #ClinicalTrials FSHDUK UCL_QS_CNMD