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AtaxAtlas

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Cerebellar ataxia spatiotemporal transcriptomics atlas

Inherited Cerebellar ataxia (CAs) is a large and multifaceted group of rare genetic neurodegenerative diseases affecting mainly the cerebellum and its connection, leading to the loss of coordination and ataxia phenotype. Purkinje... ver más

14/08/2026

INSERM

196K€

Presupuesto del proyecto: 196K€

Líder del proyecto

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHER... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

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Financiación concedida El organismo HORIZON EUROPE notifico la concesión del proyecto el día 2023-07-20

HORIZON-MSCA-2022-PF-01-01: MSCA Postdoctoral Fellowships 2022 ExpectedOutcome:

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2 Participantes

INSERM

195.91K€ | Lider

swiss aeropole SA

N.D. | Participante

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Duración del proyecto: 36 meses Fecha Inicio: 2023-07-20
Fecha Fin: 2026-08-14

Líder del proyecto

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHER... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Presupuesto del proyecto 196K€

Descripción del proyecto Inherited Cerebellar ataxia (CAs) is a large and multifaceted group of rare genetic neurodegenerative diseases affecting mainly the cerebellum and its connection, leading to the loss of coordination and ataxia phenotype. Purkinje neurons (PN) are crucial cells for cerebellar functionality, but also very sensitive neurons. Indeed, they were found as the most vulnerable cerebellar neurons in many CAs, both in mouse and human samples. Although CAs show high genetic heterogeneity and have different disease-genes, they converge into similar phenotypic features and recent papers highlighted common deregulated key pathways. The current research landscape, indeed, points out towards the identification of calcium, glutamate and inositol phosphate signaling as frequently dysregulated. However, there is yet no comprehensive analysis of degenerative mechanisms, in particular in PNs, that could prioritize molecular targets for therapeutic development. Our metanalysis readouts suggest converging pathophysiological points across different CAs, which so far remain poorly understood and need to be characterized. To this aim in this application, we propose to investigate in depth cerebellum CA signature taking advantage of cutting-edge single-cell profiling approaches in two flagship CA mouse models (SCA7, ARCA2) at two different disease stages. The combination of transcriptomics (single-nucleus RNA sequencing, probe-based spatial transcriptomics) and protein validation will help us to build a cerebellum atlas in the context of CA. The goal will be reached through the effort and synergism of a multi-disciplinary task force comprising biological, -omics approaches and computational expertise. The results will be presented and communicated during international conferences, via social media and, finally, published in peer-reviewed journals in order to reach a broad scientific community. Also, the data will be used to inform lay audience through the collaboration with patient association

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