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An RNA aptamer-based tool for the detection of pathological protein aggregates in biofluids

Project description

Early detection of ALS with RNA aptamers

Early and accurate detection of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that causes the loss of neurons and muscle control, is the first step for a timely therapeutic intervention. However, finding TDP-43 aggregates, which are abnormal protein clumps that build up in neurons and are characteristic of ALS, is one of the major challenges of an early diagnosis. In this context, the ERC-funded AptALS project will design an RNA aptamer-based diagnostics kit that can selectively bind TDP-43 aggregates. The kit will consist of biotinylated aptamers, fluorescent or chemiluminescence-based detection and an ELISA-compatible modular assay which will facilitate non-invasive, scalable and cost-effective detection. Overall, the project aims to improve the early diagnosis of ALS.

Objective

The AptALS project aims to develop a highly sensitive and scalable RNA aptamer-based kit for detecting TDP-43 aggregates, a key biomarker in ALS. The kit consists of 3 main components: (i) biotinylated RNA aptamers that selectively bind aggregated TDP-43, (ii) a detection system (fluorescence or chemiluminescence) to quantify binding events, and (iii) a modular assay format compatible with ELISA-like workflows, allowing seamless integration into clinical laboratories. By leveraging our patented aptamers, we will validate their performance in a standardized detection assay, ensuring clinical robustness. Unlike conventional antibody-based methods, RNA aptamers offer superior specificity and adaptability, enabling non-invasive, early-stage ALS detection. This innovation fills a critical gap in ALS diagnostics, replacing invasive lumbar punctures and costly neuroimaging with a cost-effective, scalable alternative. The AptALS project will focus on three key objectives: (i) assay validation, (ii) optimization of detection methods (fluorescence vs. chemiluminescence), and (iii) benchmarking with ALS patient samples. The project is led by a multidisciplinary team with expertise in biophysics, molecular biology, and computational modeling, supported by IIT’s state-of-the-art genomics, proteomics, and microscopy facilities to ensure technical rigor and scalability. Beyond its scientific impact, AptALS delivers significant societal and economic benefits. Early ALS detection can enable timely intervention, improve patient care, and reduce healthcare costs. The diagnostic kit is designed for B2B distribution, targeting hospitals, diagnostic laboratories, and pharmaceutical companies for clinical trials and patient stratification. Positioned at the forefront of neurodegenerative disease diagnostics, AptALS is poised for strong commercial adoption, bridging the gap between research and real-world clinical application, fostering innovation, and advancing ALS care.

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HORIZON-ERC-POC - HORIZON ERC Proof of Concept Grants

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Call for proposal

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(opens in new window) ERC-2025-POC

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Host institution

FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA
Net EU contribution

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€ 150 000,00
Address
VIA MOREGO 30
16163 Genova
Italy

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Region
Nord-Ovest Liguria Genova
Activity type
Research Organisations
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Total cost

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Beneficiaries (1)

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