Dr. Antonio Fontanellas, scientist at research center Applied Medicine (CIMA) of the University of Navarra, has received the award AELMHU for the best research career in rare diseases and orphan drugs. The ceremony of submission of the award, awarded by the association Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU), was held at the Royal National Academy of Medicine in Madrid.

Dr. Fontanellas has been distinguished for his work for almost thirty years in the characterization Biochemistry and molecular characterization of rare metabolic diseases and, particularly, in the development of new therapies for the porphyrias.

One of the goals of the Hepatology Program at CIMA is to find a cure for acute intermittent porphyria. It presents as painful intermittent crises and can lead to significant neurological damage and even require liver transplantation. "At partnership with the biotech company Moderna Therapeutics we have developed a new technology based on messenger RNAs. The results, published in October in the scientific journal Nature Medicine, open up the possibility of a clinical essay for patients with this rare disease," says Dr. Fontanellas.

Innovative therapies for rare diseases

AELMHU is a non-profit organization that brings together pharmaceutical and biotechnology companies with a strong commitment to discover, research, develop and commercialize innovative therapies capable of improving the status of patients suffering from rare diseases. 

"With these awards we aim to recognize the work of those who do research to improve the lives of the three million Spaniards who suffer from a rare disease," says the president of the association, Josep María Espinalt.