Two researchers from IDIBELL will lead two multicenter research projects on precision personalized medicine. Both projects will last for three years, are financed by the Next Generation EU funds and have bee assigned by the Health Institute Carlos III (ISCIII) in a specific call on personalized medicine. The PRECISION-ILD project is lead by Dr Maria Molina, leader of the IDIBELL and HUB research group on pneumology, and will focus on improving early diagnosis and treatment in interstitial lung diseases (ILDs). Besides, Dr Conxi Lázaro, co-leader of the hereditary cancer research group at IDIBELL and Catalan Oncology Institute, will tackle unsolved cases with suspected predisposition to cancer with comprehensive functional genomics in the IMPaCT_VUSCan project.

PRECISION-ILD Project: improving survival and healthcare quality in ILD patients

Interstitial Lung Diseases (ILDs) are a heterogeneous group of rare diseases that produce a progressive scarring in the lungs, ultimately resulting into death. The available therapeutic options are not effective in all patients, as the response to treatment is highly variable. Similarly, setting a correct diagnosis is difficult in most cases, especially when patients are too sick for invasive procedures. With the PRECISION-ILD project, Dr Molina’s team will work to, first, improve survival and healthcare quality in ILD patients, and, second, increase the efficiency of health-care resources. Today, fibrotic ILDs have an estimated impact of 1550M€ per year in the national health system, a number that could be significantly reduced with an earlier diagnosis.

Artificial-intelligence-based interpretation and computational modeling will be used to analyze and integrate molecular, genomic, morphologic and environmental features of the patient’s disease in the existing ILD cohorts from around the estate, which will also be extended, updated and unified thanks to the collaboration with 20 centers from 12 Spanish regions, incuding IIB Alberto Sols-IDiPAZ, Hospital La Princesa Madrid, Hospital Universitario de Canarias, Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC) e ITER, Barcelona Supercomputing Center (BSC), Hospital Son Espases-IdISBa (Mallorca), Hospital Royo Vilanova and Universidad de Zaragoza, Universidad de Valencia, HUCA-Universidad de Oviedo, Hospital Valdecillas-IDIVAL (Santander), Hospital Alvaro Cunqueiro de Vigo, Hospital San Pedro Alcántara Cáceres and Hospital Virgen del Rocio Sevilla. As Dr Molina explains, “This is the first study of ILD that brings together researchers from around the country and will solve diagnostic and therapeutic needs from patients all over the State.”

IMPaCT_VUSCan project: addressing unsolved cases in hereditary cancer

On the other hand, Dr Lázaro’s team will work on improving genetic testing for hereditary cancer diagnosis. Today, the most relevant challenge associated with the use of high-throughput sequencing technologies is the identification of variants of unknown significance (VUS), which do not have clinical applicability. The IMPaCT-Genómica initiative has developed the basic platform to evaluate unsolved cases with a suspected genetic disease, including hereditary cancer cases, but it is foreseeable that multiple VUS will be identified, thus needing further studies to reach a definitive variant classification and achieve the genetic diagnosis that these families need. The main objective of the IMPaCT_VUSCan project is to implement a comprehensive functional genomics strategy that will help find a clinical applicability to these VUS, thus helping solve a higher number of cases with suspected predisposition to cancer. For this, researchers will use artificial intelligence and multi-omic techniques.

At the same time, the project will provide a validated hereditary cancer genetic characterization protocol that will facilitate clinical decision-making all over the state through the participation of other centers in the project: IIB Sant Pau (Barcelona), CNIO, IdiSSC, HU-La Paz and IdiPaz (Madrid), NB-IdiSNA (Navarra), Fundación Pública Galega de Medicina Xenómica (FPGMX, Galicia), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (Fisabio-DS, Elche) and Fundación Instituto Investigación Sanitaria Islas Baleares (IDISBA, Palma de Mallorca). As Dr Lazaro puts it, “the application of human genetics and genomics to health care improved outcomes for patients with hereditary cancer, but there is still a lot of challenges for biomedical research to address.”

Funded by:

Reference: PMP22/00064
Title: Genómica funcional: desarrollo e implementación de una plataforma para el estudio de casos de cáncer hereditario sin resolver
Principal Investigator: María Molina Molina
Funds: 3.049.970,00 €

Reference: PMP22/00083
Title: Integración de las características moleculares, genómicas, morfológicas, y ambientales para mejorar el diagnóstico y tratamiento de precisión en Enfermedades Pulmonares Intersticiales Difusas fibrosantes (Precision-EPID)
Principal Investigator: Conxi Lázaro García
Funds: 3.179.990,00 €

The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).