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Not everyday we get the chance to be part of such fascinating work on Late onset Cerebellar #Ataxias that comes out in NEJM NEJM Journal Watch Happy to be part of it from NIMHANS, Bengaluru along with McGill University UCL Queen Square Institute of Neurology Miller Medicine American Academy of Neurology FA Research Alliance European Academy of Neurology nejm.org/doi/full/10.10…

In this study, a large repeat expansion in a noncoding part of FGF14 was found to cause late-onset cerebellar ataxia, which underscores the importance of noncoding regions in the search for causes of disease. nej.md/3UTPDNI

Just out: our discovery of THE major late onset ataxia gene. Thank you #mattdanzi! This will have major implications for late onset disease genetic research and therapy. Best part are our awesome collaborators at McGill #bernardbrais and #davidpellerin. nejm.org/doi/full/10.10…

I am thrilled to share this international work led by David Pellerin, MC Danzi, Stephan Zuchner, MD, PhD, and Bernard Brais, with which the Neurological Tissue Bank- Biobank Hospital Clínic @IDIBAPS have collaborated.

A study published in the New England Journal of #Medicine (NEJM) featuring Miller School researchers shows how a variation in the gene FGF14 causes a common form of late-onset cerebellar #ataxia, a #BrainDisorder that interferes with coordinated movement.loom.ly/dX2rEpg

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia medrxiv.org/cgi/content/sh… #medRxiv

Happy to share our new preprint article describing an optimized testing strategy for the diagnosis of GAA-FGF14 #ataxia. Lorraine McGill University The Neuro Miller Medicine UCL Queen Square Institute of Neurology medrxiv.org/cgi/content/sh…

Our latest dive into AI and a "first in class tool": "RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci" biorxiv.org/content/10.110… Special kudos to Sarah Fazal, PhD and Vanessa Aguiar-Pulido, PhD. Vanessa Aguiar-Pulido, University of Miami The key question behind this

📢 Our review “Common genetic factors among autoimmune diseases” is out in Science Magazine! With David Hafler, we explore shared genetic risk and evolutionary origins of autoimmune diseases. #autoimmunity #genetics #MS #TheNeuro 🎉 science.org/doi/10.1126/sc…

FGF14, one of the most important genetic ataxias might be moving closer to therapy within months of discovery. Congrats to Prof Matthis Synofzik and team Universität Tübingen HertieNeuroscience academic.oup.com/brain/advance-…

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus biorxiv.org/cgi/content/sh… #bioRxiv

this is NOVEL and very intriguing: we identified a common sequence alteration that predicts the stability of the adjacent tandem repeat locus of one of the major genetic ataxia loci, FGF14/SCA27B. biorxiv.org/content/10.110… @NAF_ataxia @davidPellerin_2 @Egor_Dolzhenko #bernardBrais

🎉 Our IMSGC and MultipleMS work on genetic determinants of multiple sclerosis (MS) severity is out in Nature! Read for the main findings of the study, led by myself and co-advised by Sergio Baranzini and Stephen Sawcer. #MS #Genetics 🧬 doi.org/10.1038/s41586…

Great start to the year! Our manuscript identifying a GGC repeat expansion in ZFHX3 as the cause of Spinocerebellar Ataxia Type 4. We identified this through the use adaptive Long‐Read Sequencing. …mentdisorders.onlinelibrary.wiley.com/doi/full/10.10…

Incredible quick progress for one of the most common types ataxia: GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort - eBioMedicine thelancet.com/journals/ebiom…

Our Nature genetics paper is out. After 12 months of reviews and many improvements! We identified a common 17bp sequence motif (not just on one haplotype) in front of the FGF14-GAA repeat that fully stabilizes the tandem repeat locus: no intergenerational expansion in thousands

We did it: Nature genetics cover story. Incredible team and collaborators & great science. Good to see #ATAXIA science so recognized. A devastating disease for many. Nature Genetics David Pellerin John P. Hussman Institute for Human Genomics The Neuro National Ataxia Foundation sca27b.org nature.com/ng/volumes/56/…

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…

Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

The Genetic and Evolutionary Landscape of Pentanucleotide Tandem Repeats in Human Genomes biorxiv.org/content/10.110… #biorxiv_genetic