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Integrated Validation Pipeline for Candidate Drugs for ARSACS- Dr. Bernard Brais

by ARSACS | Aug 23, 2018 | Research in 2018

The aims of the project are to validate candidate compounds in neurons and to combine genomics and proteomics strategies to pinpoint pathways affected by candidate drugs. Duration: One year Grant : $80,000 Contact Dr. Bernard Brais, co-director of the neuromuscular...

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS- Dr. Alanna Watt and Dr. Anne McKinney

by ARSACS | Jul 27, 2018 | Research in 2018

Description Aim 1 Elucidate mechanism underlying MitoQ rescue of motor coordination in Sacs-/- mice: (i)test mitochondrial dynamics and morphology using Mito-tracker administered intracellularly in Purkinje cells in treated and untreated Sacs−/− mice, (ii) test...

Phenotyping ARSACS in Vitro Using hiPSCs Reprogrammed from Patients and Differentiated into Motor Neurons and Schwabb cells – Dr. François Berthod

by ARSACS | Jul 27, 2018 | Research in 2018

The objectives are to: (1) develop and characterize a 3D in vitro human model constituted of fibroblasts, motor neurons, Schwann cells and myoblasts that recapitulate the ARSACS phenotype at the motor neuron scale, (2) determine whether the ARSACS phenotype is...

Unbiased Sacsin Client Identification and Genetic Intervention in a Mouse Model of ARSACS- Dr. Stephen Strack

by ARSACS | Jul 27, 2018 | Research in 2018

This research project utilizes Sacs KO mice to answer two fundamental questions: 1) Can we leverage recent advances in quantitative proteomics to uncover early biomarkers and perhaps drivers of ARSACS pathology in the cerebellum? 2) Can genetic modulation of the...

Exploring Neuronal Roles for Sacsin: from Dendritic Spines to Neuronal Polarity- Dr. Bernard Brais

by ARSACS | Jul 27, 2018 | Research in 2018

The focus will be on Aim 1. The objective is to submit a paper that will elucidate the role of Sacsin and EndoB2 in dendritic spines that will include our BioID results. Aim 2. We will explore if a neuronal polarity defect in cytoskeletal protein trafficking might...

Unravelling Progression Biomarkers in ARSACS: a Multicenter, Transmodal Combined Fluid Biomarker and Magnetic Resonance Imaging Study – Dr. Matthis Synofzik and Dr. Roberta La Piana

by ARSACS | Jul 27, 2018 | Research in 2018

A combined transmodal fluid biomarker and neuroimaging study to unravel progression biomarkers for ARSACS, bringing together a unique transatlantic, multi-center consortium which will yield the by far largest , most comprehensive biomarker investigation in ARSACS...

Unravelling Co-Translational Quality Control of Mutant Sacsin in the ARSACS Pathogenesis – Dr. Francesca Maltecca

by ARSACS | Jul 27, 2018 | Research in 2018

The main objectives of this research project are to: (i) verify if a co-translational QC is the cause of sacsin absence in patients, thus uncovering the earliest step in ARSACS pathogenesis; (ii) ameliorate genotype-phenotype correlation in ARSACS by assaying residual...

Caractérisation du profil clinique de la clientèle pédiatrique atteinte de l’ARSACS- Dre Cynthia Gagnon

by ARSACS | Jul 27, 2018 | Research in 2018

Les objectifs de ce projet sont de : 1. Documenter les atteintes motrices des membres inférieurs et supérieurs des enfants atteints d’ARSACS en termes de coordination, endurance et vitesse de marche, force des mains et sévérité de la maladie; 2. Déterminer la validité...

Development of Optimized Molecules That Reverse The Molecular Phenotype of ARSACS – Dr. Michel Bouvier

by ARSACS | Jul 27, 2018 | Research in 2018

The goal of this project is to develop small molecules that reverse the cellular phenotype of ARSACS into a drug that would stop the progression of the disease and/or lead to clinical improvement. The project is a multidisciplinary collaboration between Dr Bernard...

Functional and Structural Studies of Sacsin Using Baculovirus Expression Systems- Dr. Kalle Gehring

by ARSACS | Jul 27, 2018 | Research in 2018

The central goal is to obtain pure full-length sacsin in high enough concentration for structural and functional assays. We also aim to express and study the interaction of large multidomain fragments of sacsin. These will allow us to study the structure of sacsin by...

Axonal Transport and Axonal Survival in ARSACS Mice- Dr. Thomas Schwarz

by ARSACS | Jul 27, 2018 | Research in 2018

The goal of this project is to develop therapeutic interventions that would ameliorate the degeneration of neurons in ARSACS. Specific Aims. 1. Test compounds that enhance mitochondrial motility in rat hippocampal neurons to determine if they also enhance motility in...

High-throughput Screening of Small Molecule Libraries to Identify Novel Therapeutics for ARSACS Using Patient Cells – Dr. Paola Giunti and Dr. Suran Nethisinghe

by ARSACS | Jul 27, 2018 | Research in 2018

This research consists of : 1. Establishing baseline measurements for our mitochondrial and cytoskeletal phenotypic readouts on the Perkin Elmer Opera Phenix High Content Screening platform. We will use tetramethylrhodamine methyl ester perchlorate (TMRM, a cationic...

Therapeutic Approaches for ARSACS- Dr. Benoit Gentil and Dr. Heather Durham

by ARSACS | Jul 27, 2018 | Research in 2018

The current proposal proposes to capitalize on our discoveries and to move forward in two directions. First, pursue the protein/gene replacement approach until it produces a preclinical proof of concept that includes a translatable delivery method. Second, assess the...
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