World Rare Disease Day is celebrated on February 28. These types of diseases affect 8% of the world population, more than three million people in Spain, some 400,000 in Catalonia. Rare diseases present a series of particular symptoms and it is very difficult to diagnose what their true cause is. Promoting scientific dissemination, bringing scientists closer to society and awakening scientific vocations are essential tasks to make rare diseases visible and publicize the work of researchers and the actions carried out by the different associations that support those affected and their around.

Dr. Leire Goicoechea, postdoctoral researcher in the "Mitochondrial regulation of cell death" group of the IIBB, led by Professor Fernández-Checa, studies the molecular bases related to the progression of Niemann-Pick lysosomal neurodegenerative disease type C (NPC ), which is within the group of rare diseases, to try to better understand this pathology and design new therapeutic interventions.

NPC disease is a neurodegenerative lysosomal disease characterized by the accumulation of different lipids, mainly cholesterol and sphingomyelin, in organs such as the liver, spleen, brain, and even lungs. The disease is identified by neurological defects, hepatosplenomegaly, and premature death of affected individuals. Although the main biochemical feature of the disease is the intracellular accumulation of cholesterol, cholesterol accumulation has also been detected in the mitochondria. This lack of regulation in the transport of cholesterol causes mitochondrial dysfunction and strong oxidative damage, marked by a decrease in glutathione (GSH) levels, the most powerful antioxidant molecule in the body. One of the group's contributions to the study of NPC disease has been the discovery that specific mitochondrial GSH replacement may be a promising therapy for NPC disease. The group has received specific funding from the Spanish Ministry of Science and Innovation, the TV3 Marathon and the American non-profit association (Together Strong NPC Foundation) to study Niemann Pick disease.