Once again, OdV ARSACS — a charitable organisation founded in Italy by Susanna Deluca and Dr. Paolo Arrigoni — in collaboration with Fondazione Telethon for the seed grant, is supporting ARSACS research across Italy. Dr. Francesca Maltecca (Vita-Salute San Raffaele...
The National Ataxia Foundation (NAF) is funding a new research project led by Dr. Justin Wolter
Congratulations to Dr. Justin Wolter, whose research project entitled « Characterizing the Proteomic Landscape of Selective Neuronal Vulnerability in ARSACS » has been selected for funding by the National Ataxia Foundation. Dr. Wolter has been awarded a one-year...
“Understanding trafficking defects in ARSACS to identify therapeutic targets for disease” – 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...
“Modelling ARSACS in human in iPSC-derived cerebellar organoids ” – 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.
“Redefining ARSACS: Exploring TDP-43 Proteinopathy as a Novel Pathogenic Mechanism ” – 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...
“Scalable therapeutic testing in the ARSACS mouse” – Drs. Justin Wolter & 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...
“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil and 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...
“Structural Determination of Sacsin” – 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...
“ Targeting Cav2.1 to recover firing defects and degeneration of Purkinje neurons in 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)...
“Characterization of Clinically Relevant Compounds Modulating the ARSACS associated Phenotyре” – 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...
“Exploring the contributions of DCN alterations to cerebellar dysfunction in 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...
“Unveiling the Role of Microglia in ARSACS: A Multi-Model Approach Integrating Human Microglial and Zebrafish Models” – 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...
“Advanced MRI studies to achieve microstructural insight and identify imaging biomarkers in 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...
“Exploring the Role of Sacsin on Blood-Brain Barrier Cell Structure, Behavior and Function” – 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...
“A transcriptomic approach to drug discovery against 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...
“Targeting Scn4b as a therapy to rescue ataxia in a mouse model of 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...