Single-nuclei RNA-seq for CADASIL understanding and therapeutic target discovery

Awardee: Israel Fernández Cadenas

Institution: Fundació Privada Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau

Grant Amount: $60,228

Funding Period: February 1, 2022 - January 31, 2023


Summary:

The aim of this project is to understand the reason why CADASIL is produced, and possible factors associated with the severity of the disease. To do this, we will use a new and innovative strategy with omic technology (single-nuclei RNA-seq analysis) to obtain transcripts and pathways associated with the disease and its severity. Based on this information, we purpose to find therapeutic targets overexpressing/inhibiting the molecules found to be significant in the single-nuclei RNA-seq study and those found significant in other omic studies of CADASIL already published, to evaluate later the benefits in our human cellular model (pattern of aggregation of Notch3).

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Ace-tRNA readthrough therapy for choroideremia caused by nonsense mutations

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Modelling CADASIL with patient iPSC-based 3D vessel-on-chip