Une fois encore, l'OdV ARSACS — une association caritative fondée en Italie par Susanna Deluca et le Dr Paolo Arrigoni —, en collaboration avec la Fondazione Telethon pour le financement initial, soutient la recherche sur l'ARSACS dans toute l'Italie. Le Dre Francesca Maltecca (Vita-Salute San Raffaele...).
La National Ataxia Foundation (NAF) soutient un nouveau projet de recherche dirigé par le Dr Justin Wolter
Félicitations au Dr Justin Wolter, dont le projet de recherche intitulé « Caractérisation du profil protéomique de la vulnérabilité neuronale sélective dans l'ARSACS » a été retenu pour bénéficier d'un financement de la part de la National Ataxia Foundation. Le Dr Wolter s'est vu attribuer une bourse d'un an...
“ Comprendre les anomalies du transport dans l’ARSACS afin d’identifier des cibles thérapeutiques pour cette maladie ” – Dr Paul Chapple
Our previous research has shown that the ARSACS protein sacsin is essential for proper trafficking of other proteins to the cell surface. In the absence of sacsin this process is disrupted, which may lead to the aberrant localisation of key neuronal proteins, stopping...
“ Modélisation de l’ARSACS chez l’homme à l’aide d’organoïdes cérébelleux dérivés de cellules iPS ” – Dr Esther Becker
This project aims to create three-dimensional disease models called ‘organoids’ using induced pluripotent stem cells (iPSCs) from ARSACS patients. Human iPSCs are obtained from individuals’ skin cells by a process known as reprogramming and resemble stem cells present...
Developing Conditional Mouse Models and New Approaches to Treating ARSACS – Dr. Strack
This project focuses on developing conditional mouse models and new approaches to treating ARSACS.
“ Redéfinir l’ARSACS : exploration de la protéinopathie liée à la protéine TDP-43 en tant que nouveau mécanisme pathogène ” – Dr François Gros-Louis
Our research project aims to improve our understanding of ARSACS. Through an in-depth analysis of the brain of a deceased patient who generously consented to organ donation for research purposes, we identified abnormalities like those observed in...
“ Tests thérapeutiques évolutifs chez la souris ARSACS ” – Drs Justin Wolter et Huaxia Wang
Our project aims to accelerate drug discovery for ARSACS by using advanced single nucleus RNA sequencing (snRNAseq) to test 8 therapeutic candidates in the ARSACS mouse model (including ongoing studies led by Drs. Gentil/Durham, and Drs. Lim/Schmahmann). Unlike...
“ Approches thérapeutiques de l’ARSACS ” – Dr Benoit Gentil et Dr Heather Durham
This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse...
“ Détermination de la structure de la saccine ” – Dr Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is...
“ Cibler la protéine Cav2.1 pour remédier aux troubles de la décharge électrique et à la dégénérescence des neurones de Purkinje dans l'ARSACS ” – Dr Francesca Maltecca
A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)...
“ Caractérisation de composés cliniquement pertinents modulant le phénotype associé à l'ARSACS ” – Dr Mohan Babu
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited disease that damages the nervous system and muscles, caused by faults in a protein called sacsin. There is currently no cure, and existing treatments only ease some symptoms. To...
“ Étude du rôle des altérations du réseau DCN dans le dysfonctionnement cérébelleux chez les patients atteints du syndrome d’ARSACS ” – Dr Alanna Watt
In ARSACS, the cerebellum, critical for coordination and balance, is one of the most affected brain regions. Within the cerebellum, communication between Purkinje cells and the cerebellar nuclei, which helps integrate signals and execute coordinated movements, begins...
“ Mise en lumière du rôle de la microglie dans l'ARSACS : une approche multimodèle intégrant des modèles de microglie humaine et de poisson-zèbre ” – Dr Devid Damiani
As many other neurodegenerative diseases, ARSACS is also a matter of inflammation. Recent researches clarified that high levels of Sacsin protein are present in astrocytes and microglia, the cell populations of the brain that act like principal mediators of...
“ Études d'IRM avancées visant à mieux comprendre la microstructure et à identifier des biomarqueurs d'imagerie dans le syndrome d'ARSACS ” – Dr Roberta LaPiana
The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as linear hypointensities in T2-weighted images at the level of...
“ Étude du rôle de la saccine sur la structure, le comportement et la fonction des cellules de la barrière hémato-encéphalique ” – Dr Federico Herrera
Loss of sacsin affect neurons in the cerebellum, but the role of other, non-neuronal brain cells in ARSACS has been less studied. The team discovered high amounts of sacsin in the cells that form the blood-brain barrier—a protective layer that keeps harmful substances...
“ Une approche transcriptomique pour la découverte de médicaments contre l'ARSACS ” – Dr Nicolas Dupré
This project aims to discover new therapeutic targets and potential drugs for ARSACS by combining blood samples from patients with advanced iPSC (induced pluripotent stem cell) technology and artificial intelligence (AI). The team will analyze gene expression patterns...
“ Le ciblage de la protéine Scn4b comme traitement visant à remédier à l’ataxie dans un modèle murin de la maladie d’ARSACS ” – Dr McKinney
As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and...