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Using patient derived human induced pluripotent stem cells hiPSCs to interroga...

Using patient derived human induced pluripotent stem cells hiPSCs to interrogate disease mechanisms and treatment in spinocerebellar ataxias The proposed Fellowship unites a recently established patient cohort from Northern Finland with the extensive expertise of the host laboratory in investigating cerebellar disease to study spinocerebellar ataxias (SCAs), a heteroge... ver más

30/04/2023

UOXF

169K€

Presupuesto del proyecto: 169K€

Líder del proyecto

THE CHANCELLOR MASTERS AND SCHOLARS OF THE UN... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Fecha límite participación Sin fecha límite de participación.

Financiación concedida El organismo H2020 notifico la concesión del proyecto el día 2023-04-30

MSCA-IF-2020: Individual Fellowships

I+D

Cerrada hace 4 años

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No hay información privada compartida para este proyecto. Habla con el coordinador.

1 Participantes

UOXF

168.70K€ | Lider

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Duración del proyecto: 25 meses Fecha Inicio: 2021-03-16
Fecha Fin: 2023-04-30

Líder del proyecto

THE CHANCELLOR MASTERS AND SCHOLARS OF THE UN... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Presupuesto del proyecto 169K€

Fecha límite de participación Sin fecha límite de participación.

Descripción del proyecto The proposed Fellowship unites a recently established patient cohort from Northern Finland with the extensive expertise of the host laboratory in investigating cerebellar disease to study spinocerebellar ataxias (SCAs), a heterogeneous group of incurable brain diseases defined by ataxia, or a loss of motor coordination. To date, genome wide analysis studies have associated >40 genes with driving SCAs. The vast clinical and genetic heterogeneity of the SCAs poses a significant challenge and as a result, no treatments are available for patients with SCA. Therefore, the need for novel treatment options or, at the minimum, suitable disease models, is urgent. The Fellowship aims to create disease-relevant cellular models of a subgroup of SCA using human induced pluripotent stem cells (hiPSC). These hiPSC lines have been derived from patients diagnosed with one of four SCAs (types 14, 29, 41 or 44), which are genetically distinct but may share common molecular disease mechanisms involving the mGluR1/IP3R1/TRPC3 signalling pathway. The project focuses on the IP3R1 receptor which regulates the development of Purkinje cells (PCs), the sole output neurons of the cerebellar cortex, and represents a convergent point in the pathomechanism of several ataxia disorders. To identify key disease mechanisms in this subgroup of SCAs, the hiPSCs will be differentiated into monolayer PCs and cutting-edge cerebellar organoids, which more fully recapitulate the cellular organisation of the cerebellum. The disease phenotypes will then be characterised using a combination of methods in biochemistry, molecular biology, visualisation and transcriptomics. Finally, we will adapt the differentiation protocol to a 96-well format to enable high-throughput drug screening. Ultimately, the proposed Fellowship aims to be the first study in Europe to use cutting-edge hiPSC differentiation protocols to interrogate disease mechanisms in SCA and set the stage for the discovery of novel therapeutic options.

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