David Pellerin

[SciencesNetwork @SciencesNetwork]

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal disease model
https://t.co/RhvcbS7bD1

[bioRxiv Genetics @biorxiv_genetic]

The Genetic and Evolutionary Landscape of Pentanucleotide Tandem Repeats in Human Genomes https://t.co/IgmXYptXoS #biorxiv_genetic

[Christel Depienne @ChristelDepienn]

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 🧵https://t.co/uCjD4WSWUD

[Stephan Zuchner, MD, PhD @szuchner]

Somatic repeat expansion field is getting more interesting!! @DavidPellerin_2⁩ ⁦@NAF_Ataxia⁩ ⁦@ataxia_global⁩ ⁦@CureFA_org⁩ #Sca27b ⁦@BillNye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” https://t.co/LLIiqrYI1G

[Stephan Zuchner, MD, PhD @szuchner]

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. @NatureGenet @DavidPellerin_2 @HIHGatUM @TheNeuro_MNI @NAF_Ataxia https://t.co/msrs3XkDtq
https://t.co/w76SYVH3fc

[Stephan Zuchner, MD, PhD @szuchner]

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 of chromosomes beyond 30 repeats. This could be a mechanistic blueprint and a therapeutic opportunity for other dynamic genetic loci causing disease ...
FGF14/SCA27B is the major dominant genetic ataxia locus accounting for ~15% of all ataxia patients worldwide - in East Canada for up to 60% of all ataxia cases.
https://t.co/e1zjiUcrTq

We thank all supporters, of this important story:
@NAF_Ataxia @davidPellerin_2 @Egor_Dolzhenko @AllofUsResearch @GabrielMatosRo5 @BillNye @MikeEberle @Gianina_Natoli #Schahram Akbarian #Marek Napierala #Tomi Pastinen #bernardBrais #MattDanzi #sca27b

[Stephan Zuchner, MD, PhD @szuchner]

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 https://t.co/FLtSSd9SIi

[Adil Harroud @AdilHarroud]

🎉 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 🧬

https://t.co/zRP9baRrHQ

[Stephan Zuchner, MD, PhD @szuchner]

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.
https://t.co/rMcbifjqBR
@NAF_ataxia @davidPellerin_2 @Egor_Dolzhenko #bernardBrais #MattDanzi
RFS: reference 5’-flanking sequence
CFV: common 5’-flanking variant

[bioRxiv @biorxivpreprint]

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus https://t.co/sovHzGBgOX #bioRxiv

[Stephan Zuchner, MD, PhD @szuchner]

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 @uni_tue @HertieNeuroSci

https://t.co/SQCjyIJ6nR

[Adil Harroud @AdilHarroud]

📢 Our review “Common genetic factors among autoimmune diseases” is out in @ScienceMagazine! With @DavidHaflerMD, we explore shared genetic risk and evolutionary origins of autoimmune diseases. #autoimmunity #genetics #MS #TheNeuro 🎉

https://t.co/ylq6C1IJz6

[Stephan Zuchner, MD, PhD @szuchner]

Our latest dive into AI and a "first in class tool": "RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci"
https://t.co/llToNn14He
Special kudos to Sarah Fazal, PhD and Vanessa Aguiar-Pulido, PhD. @vaguiarpulido, @univmiami
The key question behind this work: With over 1.7 million short tandem repeats now identified, which ones should we prioritize in disease studies?

[medRxiv @medrxivpreprint]

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia https://t.co/KIrr6DLen0 #medRxiv

[David Pellerin @DavidPellerin_2]

Happy to share our new preprint article describing an optimized testing strategy for the diagnosis of GAA-FGF14 #ataxia.

@Univ_Lorraine @mcgillu @TheNeuro_MNI @umiamimedicine @UCLIoN

https://t.co/xspuudO5Ki

[Miller Medicine @umiamimedicine]

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.https://t.co/M5H9OUBdiz

[Laura Molina Porcel 🧠 🩺🔬⛰️ @LauraMolinaPor1]

I am thrilled to share this international work led by @DavidPellerin_2, MC Danzi, @szuchner, and Bernard Brais, with which the Neurological Tissue Bank- Biobank @hospitalclinic @IDIBAPS have collaborated.

[Stephan Zuchner, MD, PhD @szuchner]

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. https://t.co/B6kMnQZG2w

[NEJM @NEJM]

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. https://t.co/J57HJKdPck

[Mainak Bardhan | মৈনাক বর্ধন @mainak_bardhan]

Not everyday we get the chance to be part of such fascinating work on Late onset Cerebellar #Ataxias that comes out in @NEJM @JWatch Happy to be part of it from @NIMHANS_BLR
along with @mcgillu @UCLIoN
@umiamimedicine
@AANmember @CureFA_org @EANeurology
https://t.co/AbfGjkkP7L