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Neurodegenerative diseases are a group of disorders characterized by the progressive degeneration of nerve cells, leading to cognitive, motor, and functional impairments. These conditions, which include diseases like Frontotemporal Dementia (FTD), Huntington's Disease, and various forms of ataxia, pose significant challenges due to their complexity and the lack of effective treatments. Research in this field aims to uncover the underlying molecular mechanisms driving these diseases, with the ultimate goal of developing targeted therapies to halt or reverse their progression.
Our research group is at the forefront of these efforts, focusing on three main lines of investigation:
Developing Antisense RNA Therapy for Frontotemporal Dementia (FTD) Due to Progranulin Deficiency: We are pioneering a therapy targeting a specific mutation (c.709-1G>A) in the GRN gene, known to cause FTD in the Basque population. Our approach involves the use of antisense oligonucleotides (ASOs) and CRISPR-dCas13 transcriptome editing systems to correct the progranulin deficiency in affected patients.
2. Characterizing RNA Processing Alterations in TDP43 Proteinopathies and Huntington's Disease: Our group has established a targeted RNA sequencing (RNAseq) method to accurately quantify RNA isoform expression in patient tissues and fluids. We are also exploring the use of CRISPR-dCas13 to block cryptic polyadenylation, a hallmark of Huntington's Disease, and are collaborating on engineering RNA-binding proteins as a novel therapeutic strategy for modifying RNA processing in neurodegenerative diseases.
3. Genetic and Clinical Characterization of Patients with Cerebellar Ataxia and Spastic Paraplegia: We are investigating a large cohort of patients with undiagnosed ataxia or spastic paraplegia using advanced molecular diagnostic techniques, including the study of FGF14 expansions and Whole Genome Sequencing. Additionally, we are exploring the frequency of an intronic mutation in the SPG7 gene and developing ASO-based experiments to counteract its effects.
FUNDING
FUNDING
These research lines are funded through the following projects:
Predoctoral grants from the Department of Education – Basque Government to Ane Velasco (Ref. PRE_2020_1_0171), Laura Pérez-Fernández (PRE_2022_1_0181) and María Manterola (PRE_2023_1_0126)
Strategic Health Action projects PI19/00468 and PI22/00598, grants to inventive the Research Consolidation of the Ministry of Science
Innovation and Universities CNS2023-1444441
EITB Maratoia project (funded through the Basque Foundation for Health Innovation and Research BIOEF, BIO22/ALZ/005).
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