SPLICESCREENPD: for splicing-modifying factors for late onset Pompe Disease

Schematic diagram of the project HTS approaches to find small molecules capable of rescuing GAA exon 2 inclusion and enzymatic functionality in patient fibroblasts

The long-term aim of this Project is to identify an innovative therapeutic solution for Pompe Disease (PD- OMIM# 232300, hereinafter PD). In the short term, specific aims of the  Project will be to complete a set of 3 high-throughput screening analysis to identify factors/molecules able to restore normal splicing of the lysosomal acid alpha glucosidase gene (GAA; E.C. exon 2 in the presence of the common c.-32-13T>G splicing mutation. Such screenings will be performed during the first year of the Project. To achieve our goal we will take advantage of two experimental models that have been optimised in our laboratory: the first model is based on a Fluorescent Reporter system that can be used to measure variations in GAA exon 2 inclusion, whilst the second model is based on optimizing the use of patient fibroblasts to perform a functional GAA enzyme activity analysis.

Duration: 2018-2019

Donor/funding programme:


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Emanuele Buratti Molecular Pathology, ICGEB Trieste, Italy

Azienda Saniataria Universitaria Integrata di Udine, Italy