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Neurodegenerative Diseases

The research conducted in our group is geared toward elucidating the cause and molecular mechanisms of neurodegeneration in Parkinson's disease (PD), a disabling, currently incurable common neurodegenerative disorder. To this end, we perform clinical and pre-clinical translational research in both PD patients and in human-relevant experimental in vitro and in vivo PD-related models. 

Elucidating the molecular mechanisms underlying neurodegeneration in PD should allow to: 

  • Identify biomarkers for PD diagnosis, early detection, patient stratification, disease progression, prognosis or response to treatment. This is the objective of the VHIP Project that the team is carrying out.
  • Identify new molecular targets for potential therapeutic intervention and prevention.
  • Develop novel therapeutic strategies with disease-modifying potential.
  • Unravel molecular pathways common to other neurodegenerative diseases and, in a broader sense, brain aging.
     

Research lines

Role of mitochondria in Parkinson's disease

Mitochondria are highly dynamic organelles with complex structural features that play several important cellular functions, such as the production of energy by oxidative phosphorylation, the regulation of calcium homeostasis, or the control of programmed cell death. Given its essential role in neuronal viability, alterations in mitochondrial biology can lead to neuron dysfunction and cell death. Defects in mitochondrial respiration have long been implicated in the etiology and pathogenesis of Parkinson's disease (PD). However, the role of mitochondria in PD extends well beyond defective respiration and also involves perturbations in mitochondrial dynamics, leading to alterations in mitochondrial morphology, intracellular trafficking, or quality control. Whether a primary or secondary event, mitochondrial dysfunction holds promise as a potential therapeutic target to halt the progression of dopaminergic neurodegeneration in PD.

IP: Miquel Vila Bover

Role of autophagy in neurodegeneration

The main focus of our research is to study the role of autophagy in neurodegeneration.

Autophagy is the degradation of intracellular components inside the lysosomes and it is essential for the maintenance of cellular homeostasis and neuronal viability. Alterations in the autophagy process have been associated with neurodegenerative diseases including Parkinson’s, Huntington’s and Alzheimer’s disease,  and has been shown to be one of the main causes that contribute to neuronal death in these pathologies.

 

Our efforts are currently directed to:

- Study the pathogenic role of autophagic/lysosomal dysfunction in Parkinson's disease

- Development of new therapies for Parkinson’s disease based in the restoration of lysosomal glucocerebrosidase (GBA) activity through nanoencapsulation.

- Development of new autophagy pharmacological modulators (mTOR-independent) as a therapeutic strategy in neurodegenerative diseases.

- Study  selective autophagy in Huntington’s disease: charaterization of mitophagy impairment in Huntington’s disease.

IP: Marta Martínez Vicente

Congenital malformations of the cranio-vertebral junction (Consolidated line)

General aims: Chiari malformation is an entity that is diagnosed more and more frequently. The fundamental diagnostic element of this congenital malformation is a descent of the cerebellum towards the cervical canal, which produces local compression phenomena and alterations in the circulation of the cerebrospinal fluid. However, there are great discrepancies about how the study and treatment of these patients is carried out in the different centers, which affects their final result. Our main objective in this line of research is to better understand the origin and repercussions of these malformations and contribute to improving treatment and, therefore, its final result.


Specific aims: 1) To deepen the knowledge of the pathophysiology of craniocervical malformations, especially Chiari Type 1 (MC-1) malformation, and to quantify the repercussion of these malformations in the clinical, social, and occupational fields. 2) Study the genetic bases of this malformation and its penetrance at the family level. 3) To study sleep disturbances (particularly the type and frequency of nocturnal apnea) associated with CM-1. 4) Study of the quality of life in patients with a malformation of the craniocervical joint before and after surgical treatment. 5) To deepen the knowledge of the cognitive-affective syndrome that patients affected by CM-1 may present (research project FIS PI22/01082). 6) Contribute to the homogenization in the management of MC-1 from the participation of our group in the consensus conferences aimed at the elaboration of clinical practice guidelines to be applied in the diagnosis and treatment of these patients.


IP: Joan Sahuquillo Barris

Congenital malformations of the cranio-vertebral junction (Consolidated line)

General aims: Chiari malformation is an entity that is diagnosed more and more frequently. The fundamental diagnostic element of this congenital malformation is a descent of the cerebellum towards the cervical canal, which produces local compression phenomena and alterations in the circulation of the cerebrospinal fluid. However, there are great discrepancies about how the study and treatment of these patients is carried out in the different centers, which affects their final result. Our main objective in this line of research is to better understand the origin and repercussions of these malformations and contribute to improving treatment and, therefore, its final result.


Specific aims: 1) To deepen the knowledge of the pathophysiology of craniocervical malformations, especially Chiari Type 1 (MC-1) malformation, and to quantify the repercussion of these malformations in the clinical, social, and occupational fields. 2) Study the genetic bases of this malformation and its penetrance at the family level. 3) To study sleep disturbances (particularly the type and frequency of nocturnal apnea) associated with CM-1. 4) Study of the quality of life in patients with a malformation of the craniocervical joint before and after surgical treatment. 5) To deepen the knowledge of the cognitive-affective syndrome that patients affected by CM-1 may present (research project FIS PI22/01082). 6) Contribute to the homogenization in the management of MC-1 from the participation of our group in the consensus conferences aimed at the elaboration of clinical practice guidelines to be applied in the diagnosis and treatment of these patients.


IP: Joan Sahuquillo Barris

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News

The event focused on advances in disease-modifying therapies and on the value of alliances between patients and professionals to promote more participatory care and research.

This VHIR initiative promotes well-being, empathy and community participation in Barcelona neighbourhoods through an intergenerational model

PAIR is an intergenerational initiative with people affected by Parkinson's disease and adolescents.

Coneix i participa al projecte VHIP

Vall d'Hebron Iniciativa per al Parkinson (VHIP) is a research project aimed at the development of biochemical markers for the early detection of Parkinson's disease. This study is carried out in people at high risk of having this disease, because they carry genetic mutations that predispose to the development of Parkinson's or because they present non-motor symptoms that manifest themselves years before motor symptoms.

Access the project and study