The CaixaResearch call for Health Research 2024 will fund an IDIBELL project led by Dr. Aurora Pujol. The competitive call from ”la Caixa” Foundation is endowed with 25.7 million euros and awards excellent biomedical research projects with great social impact, selected by highly prestigious international experts in their fields of study. Among this year’s winners are 11 projects led by 6 Catalan research centers. The award ceremony took place yesterday at CaixaForum Madrid.
The project led by Dr. Aurora Pujol, which has received a grant of 999,782.47 euros, aims to find a cure for a lethal degenerative genetic disease that affects children, adrenoleukodystrophy. The research will be carried out in consortium with Manel Esteller, from the Josep Carreras Leukemia Research Institute, Antonella Consiglio, from IDIBELL, the University of Barcelona and IBUB (Institut de Biomedicina de la UB), and the Spanish Association against Leucodystrophies.
Adrenoleukodystrophy is a rare hereditary neurometabolic disease. It affects 1 in every 17,000 inhabitants, mainly men, although some female carriers may suffer milder forms of the disease. It is caused by mutations in the ABCD1 gene and damages myelin, the membrane that insulates nerve cells in the brain.
There are different variants of the disease, with various levels of severity, which can affect different members of the same family. The most serious is infantile cerebral adrenoleukodystrophy, which is degenerative and lethal and affects children between 5 and 10 years of age. The milder variants are chronic. However, the molecular mechanisms that regulate brain inflammation and give rise to more or less severe forms of the disease are not fully understood.
Through the project, researchers will try to elucidate the molecular bases of the disease and identify the factors that lead to myelin loss. To do so, they will use leading technologies and develop new models of the disease from cell culture of samples from patients with the two variants of the disease to identify their molecular mechanisms and biomarkers. The results obtained in the project will allow for improved understanding and management of the disease, pave the way for future clinical trials and facilitate the implementation of neonatal screening for early diagnosis.
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).