Search for a cure for a life-threatening degenerative genetic disease that affects children

Aurora Pujol

Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain

Adrenoleukodystrophy is a rare inherited neurometabolic disease. It affects 1 in 17,000 people, mostly men, although some female carriers may develop 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 varying levels of severity, which can affect different members of the same family. The most severe form is infantile cerebral adrenoleukodystrophy, which is degenerative and lethal and affects children between 5 and 10 years of age. Milder variants are chronic. However, the molecular mechanisms that regulate brain inflammation and lead to more or less severe forms of the disease are still not well understood.

In this project, the researchers will try to elucidate the molecular basis of the disease and identify the factors that lead to the loss of myelin. To do this, they will use cutting-edge technologies and develop new models of the disease using cell culture samples from patients with the two variants of the disease to identify their molecular mechanisms and biomarkers. The results obtained from the project will improve understanding of the disease and its management, pave the way for future clinical trials and facilitate the implementation of neonatal screening for early diagnosis.

• Manel Esteller, Institut de Recerca contra la Leucèmia Josep Carreras, Badalona, Spain

• Antonella Consiglio, Universitat de Barcelona, Spain

• ELA España (Asociación Española contra las Leucodistrofias), Spain

Brain Inflammation in adrenoleukodystrophy: from drivers to treatments

€999,782.47