On Wednesday April 25 we commemorate the national day of cystic fibrosis, one of the most common serious genetic diseases, affecting one in five thousand births. The Human Molecular Genetics research group at IDIBELL searches new treatments for cystic fibrosis, both from a functional approach and from the development of gene therapies. The research carried out in IDIBELL about this disease is possible through the support of the Catalan Association of Cystic Fibrosis, which funds research staff and equipment.
Cystic fibrosis is a genetic chronic disease that affects various organs, especially the lungs and the pancreas. Although in recent years there have been important advances in knowledge and symptomatic treatment, which has greatly improved the quality and life expectancy of those affected, it remains an incurable disease. Cystic fibrosis is due to mutations in the CFTR gene, responsible for the production of a protein with the same name that transport chloride ions across epithelial cells and tissues which controls the regulation of other channels. Since 1989, when the gene was characterized, there have been discovered about two thousand mutations affecting different stages of protein biosynthesis in epithelial cells. Alterations have also been discovered in other CFTR-related genes, which determine the manifestations and disease progression.
In the IDIBELL, teams coordinated by Josep Maria Aran and Teresa Casals, researchers from Human Molecular Genetics Group, carry out studies on the disease from different approaches. The group of Dr. Josep Maria Aran investigates gene therapies that allow correcting the mutation in the CFTR gene. The researcher acknowledges that “gene therapy will be crucial to end the disease”, but there are numerous difficulties and still is too early to consider it an alternative therapy.
More advanced are the functional studies. Currently, clinical trials are been conducting with VX-770 molecule, which helps the CFTR channel to open and close regularly. There are also studies on other molecules to correct the most common mutation of the gene, F508del. Other researches, involving IDIBELL, study disease processes affecting the quality of life of patients, such as infection, inflammation and cellular oxidative stress. The team led by Dr. Casals is investigating, along with researchers from the Hospital Vall d’Hebron, new diagnostic methods that provide insights into the effect of mutations affecting the patients, as well as variants that modify the phenotype for new biomarkers and potential therapeutic targets.
Research in cystic fibrosis is possible thanks to the involvement of patient associations and financing of public entities. Therefore, in this year’s National Day of this disease, Cystic Fibrosis Spanish Federation warns that cuts in research and health could jeopardize the continuity of many research projects.