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 Pediatrics Services.

Scientific research in the Unit investigates the genetic and molecular mechanisms underlying neurodegenerative processes. The ultimate goal of the research is to identify genes, their products and molecular pathways involved in order to effectively provide genetic diagnosis and selective therapeutic approaches to patients. The Unit uses multidisciplinary strategies to identify genes, proteins and other gene products involved in the function and dysfunction of the nervous system by using next-generation RNA and DNA sequencing, functional assays, biochemical, proteomics, 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.

Furthermore, we develop large-scale genomics technologies and bioinformatics tools to identify genetic causes underlying neurological diseases.

Principal Investigators

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

View publications Antoni Matilla-Dueñas

Dr. Ivelisse Sanchez-Diaz, Co-Director of the functional biology and experimental therapies laboratory

View publications Ivelisse Sánchez

Línies de recerca

Identification of the genetic causes and molecular mechanisms underlying hereditary ataxias and paraplegias

Principal Investigator: Dr. Antoni Matilla

• Identification of the gene and the genetic cause associated with spinocerebellar ataxia type 37 (SCA37). Characterization of the underlying molecular mechanisms.
• Identification of genes and genetic defects underlying neurodegeneration in ataxias and spastic paraplegias.

Principal Investigators: Dr. Antoni Matilla and Dr. Ivelisse Sánchez

• Identification of mechanisms underlying neurodegeneration in spinocerebellar ataxia type 1 (SCA1).

Therapeutic treatments in a mouse model of Friedreich Ataxia

Principal Investigator: Antoni Matilla

• Gene therapy with vectors based on adenoassociated virus (AAV) in a mouse model of Friedreich's ataxia
• Restoration of frataxin deficits and mitochondrial function with a adenoassociated vector on a mouse with Friedreich's ataxia

Therapeutic treatments in a mouse model of mucopolysaccharidosis IIIB (Sanfilippo syndrome B) type

Principal Investigators: Dr. Antoni Matilla, Dr. Ivelisse Sánchez

• Evaluate the substrate reduction strategy to decrease GAGs content in a mouse model of Sanfilippo B Syndrome
• Evaluate the modulation of autophagy as therapeutic treatment in a mouse model of Sanfilippo B Syndrome
• Evaluate the therapeutic use of neuroimmunomodulators in a mouse model of Sanfilippo B Syndrome

Identification of neurosignaling mechanisms and potential therapeutic targets

Principal Investigator: Dr. Ivelisse Sánchez

• Determine the role of protein phosphatase PP2A and its inhibitor Anp32a in neurodegeneration
• Identify genetic and chemical modulators of autophagy in Sanfillippo B cell models
• Identify molecular mediators of mitochondrial dysfunction in cellular models of Friedreich's ataxia, spinocerebellar ataxia, and Alzheimer's disease by genetic and chemicals screenings

Genetic diagnosis of more than 400 neurological diseases

Principal Investigator: Dr. Antoni Matilla

Develop and implement next-generation sequencing technologies and bioinformatics tools to identify and characterize genetic causes underlying neurological diseases.