Research

About

The Neurogenetics Research Unit was founded by Dr Antoni Matilla in 2009. It is located in the Can Ruti Campus and is integrated within the Department of Neurosciences of the Hospital Germans Trias i Pujol (HUGTiP). It also provides genetics diagnoses to the Neurology and Paediatrics Services of the HUGTiP and to other Centres in Spain.

This translational research group is co-directed by Dr Antoni Matilla and Dr Ivelisse Sánchez. The research in the Unit investigates the genetic bases and molecular mechanisms underlying neurodegenerative processes. The ultimate goal of its research is to identify disease causative and modifying genes, their products and the molecular pathways involved in the function and dysfunction of the nervous system to effectively provide genetic diagnosis and identify selective therapeutic approaches for patients. To achieve this, the group uses multidisciplinary strategies including next-generation RNA and DNA sequencing, functional assays, biochemical, proteomics, transcriptomics, and molecular neurosignaling studies.

An important objective of the Unit is to identify and implement treatments for various neurodegenerative diseases. To achieve this, in 2015 the functional biology and experimental therapies laboratory (FBET) was established by Dr Antoni Matilla and Dr Ivelisse Sánchez. The laboratory uses gene therapy technology based on adenoassociated virus vectors (AAV), screenings of drug compounds and genetic libraries, and in vitro and in vivo preclinical testing of new therapeutic candidates. The Unit is currently developing an AAV-based gene therapy for the treatment of Friedreich's ataxia.

Scientists in the Unit develop large-scale genomics technologies and bioinformatics tools to identify genetic causes underlying neurological diseases.

Keywords: Ataxias, ATMPs, biomarkers, cell death, gene therapy, genomics, neurogenetics, neurodegeneration, paraplegias.

Neurogenetics research group

Research lines

Identification of the genetic causative deficits and the molecular mechanisms underlying hereditary ataxias, spastic paraplegias and other neurodegenerative disorders

Genetic diagnosis of more than 400 neurological diseases

Development of a gene therapy strategy for Friedreich Ataxia and its evaluation in mouse models of the disease

Multiomics-based identification of biomarkers of disease progression in hereditary ataxias and other neurodegenerative disorders

Identification of signalling targets and therapeutic strategies for the neurological phenotypes in hereditary metabolic disorders and the analysis of mice models through machine learning and artificial intelligence

Active projects

Funding for industrial doctorate. Biointaxis

Funding agency: Agència de Gestió d'Ajuts Universitaris (AGAUR)
Agency code: 2022 DI 102
Start date: 2023
End date: 2026

Gene therapy for Friedreich's ataxia

Funding agency: Centro para el Desarrollo Tecnológico Industrial (CDTI), Instituto de Salud Carlos III (ISCIII)
Agency code: PMPTA22/00018; IDI-20230057
Start date: 2023
End date: 2024

Neurogenetics and Neurodegenerative Diseases Consolidated Research Group

Funding agency: Agència de Gestió d'Ajuts Universitaris (AGAUR)
Agency code: 2021 SGR 00541
Start date: 2023
End date: 2025

Preclinical evaluation of a new gene therapy vector based on adenoassociated virus in the reversion of the neurological and cardiac signs in an acute mouse model with Friedreich's ataxia

Funding agency: Instituto de Salud Carlos III (ISCIII)
Agency code: PI20/00647
Start date: 2021
End date: 2023

Development of an innovative gene therapy drug for the treatment of Friedreich's Ataxia

Funding agency: Ministerio de Ciencia e Innovación Retos-Colaboración
Agency code: RTC2019-006995-1
Start date: 2020
End date: 2023

A first-in-class AAV-gene therapy for the curative treatment of Friedreich's Ataxia

Funding agency: Fundación "La Caixa"
Agency code: CL91-00017
Start date: 2020
End date: 2022

Biointaxis S.L. business plan: development of FRATAXAV, a gene therapy drug based on adeno-associated virus AAV to treat Friedreich's ataxia

Funding agency: Centro para el Desarrollo Tecnológico Industrial (CDTI)
Agency code: EXP-00123449/SNEO-20191074
Start date: 2020
End date: 2022

Scientific publications

Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Piñeiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun. 2022 Feb 10;4(2):fcac030. DOI: 10.1093/braincomms/fcac030.

López E, Casasnovas C, Giménez J, Matilla-Dueñas A, Sánchez I, Volpini V. Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia. Neurogenetics. 2015 Apr;16(2):97-105. DOI: 10.1007/s10048-014-0429-6. Erratum in: Neurogenetics. 2022 Jan;23(1):79.

Antoni Matilla-Dueñas’ publications

Ivelisse Sánchez’s publications

Additional information

  • Member Scientific Steering Committee of the Spanish Association of Spastic Paraplegia (AEPEF).
  • Director and Founder of IGTP spin-off: Biointaxis S.L. dedicated to developing a gene therapy for Friedreich's ataxia.

Principal Investigators

Dr. Antoni Matilla Dueñas, Head of the Unit, Research Group Leader, Director of the Neurogenetics laboratory and Co-Director of the functional biology and experimental therapies laboratory. Publications

Dr. Ivelisse Sánchez Diaz, Research Group Leader and Co-Director of the functional biology and experimental therapies laboratory. Publications

Biointaxis

Biointaxis is a recently created academic Biotech spin-off from the Germans Trias i Pujol Research Institute (IGTP).

The team is led by Dr. Matilla and Dr. Sánchez, both pioneers in the identification of ataxia genes and research in neurodegenerative disorders.

They are currently developing a gene therapy treatment for Friedreich´s ataxia, a rare inherited, progressive, neurodegenerative disease that typically affects teenagers and young adults. Their research shows efficacy of the treatment being able to re-establish the neurological functions in mice models of Friedreich’s ataxia.

They develop life-changing treatments for rare genetic diseases such as Friedreich's ataxia.

News

- Recerca, Innovació, Projectes

Finançament estatal d'1,8 milions d'euros per desenvolupar una teràpia gènica avançada per a l'atàxia de Friedreich

El Centre per al Desenvolupament Tecnològic Industrial (CDTI) i l'Instituto de Salud Carlos III (ISCII) financen amb 1,8 milions d'euros a la convocatòria d'R+D+I vinculada a la Medicina Personalitzada i Teràpies Avançades en el marc del Proyecto Estratégico para la Recuperación y Transformación Económica para la Salud de Vanguardia (PERTE para Salud de Vanguardia) a la teràpia gènica per l'atàxia de Friedreich.

- Recerca

Investigadors de Germans Trias i de l’Hospital Mateu Orfila de Menorca identifiquen un nou subtipus d’atàxia

L'article a on es descriu el nou subtipus SCA49 ha estat publicat a la revista Brain Communications, i la troballa és destacada pel seu consell editorial. El nou subtipus s'ha descrit investigant membres d'una mateixa família a l'illa de Menorca. La troballa permet conèixer millor les bases patològiques de l'atàxia i obre la porta a fer diagnòstics presimptomàtics i assessorament genètic a persones portadores de l'alteració que causa la patologia i és el primer pas per identificar la causa i desenvolupar teràpies.

+ Notícies