Rare diseases

Objectives

Objectives of the Translational Research Program

Description of the main objectives of the Program

The Rare Diseases Transversal Program aims to connect biomedical research groups and clinically oriented investigators at IRBLleida and the Hospital Universitari Arnau de Vilanova (HUAV) working on distinct rare conditions, including rare neurodegenerative diseases, neuromuscular disorders, mitochondrial diseases, genome instability syndromes and rare cancers.

The Program will promote cross-group collaboration, harmonize experimental approaches, and generate joint preliminary data to support competitive external funding and strengthen the strategic positioning of IRBLleida in basic and mechanistic research on rare diseases.

In parallel, the Program will promote knowledge dissemination on rare diseases and highlight the research carried out at IRBLleida to the scientific community and to society in Lleida and beyond.

Rare diseases are a heterogeneous group of disorders that often share fundamental molecular and cellular alterations despite distinct clinical manifestations. Across neurodegenerative, neuromuscular, metabolic and cancer-related rare conditions, common themes include mitochondrial dysfunction, redox imbalance, disrupted proteostasis, impaired genome maintenance and altered cellular stress signalling. 

At IRBLleida and HUAV, participating groups address these processes using complementary models: 

• Rare brain cancers such as glioblastoma to study calcium-dependent signalling and neuron-tumor/glia-tumor communication
• Motor neuron diseases including spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) to dissect neuronal vulnerability and stress responses
• Friedreich's ataxia as a cardio-neurodegenerative mitochondrial disorder to investigate oxidative stress and disease modifiers
• Mitochondrial forms of diabetes to understand metabolic dysfunction
• Rare genomic instability syndromes (Fanconi anemia, Bloom syndrome and Atelis syndrome) to uncover mechanisms of DNA replication stress and genome instability.

Integrating these research lines within a shared program will enable cross-disease hypotheses, synergistic experimental approaches and collaborative projects with translational potential, strengthening the positioning of IRBLleida in rare diseases research.

General objectives

The general objective of this Translational Research Program is to establish a multidisciplinary and transversal research framework focused on rare diseases, integrating complementary biomedical research expertise and human disease models to address shared molecular and cellular mechanisms underlying disease onset and progression.

In addition, the Program aims to increase awareness and understanding of rare diseases and of the research performed at IRBLleida and HUAV through coordinated communication activities with patient associations, scientific meetings, and media dissemination.

More specifically, the aims of the Program can be subdivided into three branches:

1. New Colloborative Research

• Establish effective and sustained collaborations between research groups with complementary technical, conceptual, and model-system expertise, enabling integrated approaches that would not be achievable within single-group projects. As an initial step, a kick-off meeting will be organized to map ongoing activities, models, and methodologies across participating groups.
• Generate common resources, experimental strategies and frameworks applicable across multiple rare disease models by identifying methodological overlaps. These may include the use of compound libraries, comparative analyses of mitochondrial function (e.g., respirometry), oxidative stress assays, standardized cellular stress markers or shared use of model systems.
• Identify and characterize common pathogenic mechanisms across rare diseases with distinct clinical manifestations, including neurodegenerative disorders and cancer, such as glioblastoma, spinal muscular atrophy, amyotrophic lateral sclerosis, Friedreich's ataxia, and rare genome instability syndromes.
• Facilitate the identification of novel molecular pathways and targets emerging from these mechanistic studies that may inform future preclinical therapeutic strategies and rational drug repurpose efforts.

2. Institutional positioning and opportunities

• Strengthen the institutional positioning of IRBLleida in rare disease research by creating a visible, sustainable and open transversal program that integrates pediatric and adult rare diseases, as well as rare cancers, and that progressively incorporates new groups, clinicians and collaborators as opportunities arise.
• Lay the groundwork for future competitive funding applications, both national and international, through the generation of high-quality preliminary data, the consolidation of collaborative research networks, and the development of interactions with external clinical and scientific communities.
• Enhance training opportunities for early-career researchers, promoting interdisciplinary skills, methodological cross-training, and mobility across research groups participating in the Program.

3. Social and patient engagement

• Promote social engagement and visibility of rare diseases through coordinated actions with patient associations and relevant stakeholder groups at local, national and international levels, stimulating bidirectional communication between researchers and society.
• Integrate patient perspectives by identifying key needs and concerns through structured interactions with patient associations, using this input to better contextualize biomedical research questions and to guide the design of relevant preclinical research.
• Strengthen the interface between research and emerging rare disease clinical coordination initiatives at HUAV, promoting alignment between experimental research and patient-oriented needs and enabling future translational opportunities.