Dr. Fernando Martínez Valle, assistant physician of Internal Medicine Service at Vall d'Hebron Hospital and member of systemic diseases group of Vall d'Hebron Research Institute (VHIR) is one of the most prominent researchers from all nominations for the ASPIRE awards in Andrade's disease, who calls the biomedical company Pfizer. It is the only winner of our country in the last edition of these awards.

These awards consist of research grants seek to advance the understanding, diagnosis and treatment of Andrade's disease, also known as hereditary transthyretin amyloidosis (AhTTR). It is a rare disease caused by a degenerative disorder of the peripheral nervous system that can affect the functioning of vital organs such as the heart or kidneys.

Andrade's disease is irreversible, progressive and fatal. Specifically, the cause of this disease is a mutation in the gene encoding the protein transthyretin (TTR) causing destabilization of proteins, which leads to misfolding of the these forming amyloid fibers that deposite in nerves and organs affecting normal operation.

The prize awarded to Dr. Martínez Valle, which also involved the doctors Juan Buades from Hospital Son Llatzer of Palma de Mallorca and Francisco Muñoz-Beamud and Cristina Borrachero from Hospital Juan Ramón Jiménez of Huelva, will support the research work in this area in which there are still many medical needs to be filled. The winning project, says Martínez Valle, is "to further investigate the mechanism of elimination of proteins that are altered, ie, the defense mechanisms of the body against diseases called amyloidosis and characterized by creating amyloid deposits. We are going to explore a new path which we hope serves to find therapeutic targets hitherto unknown and therefore new therapeutic options".

So far, the knowledge of how proteins function has allowed to make available to patients and healthcare professionals, the first drug developed by Pfizer therapy for the treatment of this disease.

But despite these recent developments in the treatment of Andrade's disease, research on the epidemiology and clinical management of patients is still insufficient. In this sense, the prize-winning work will investigate about the differences between groups of patients, and according to Dr. Martínez Valle "it will provide greater knowledge and scientific evidence on pathophysiological and basic aspects of this rare disease. Personally, this award will serve to consolidate the recent Amyloidosis Unit of the Hospital that initiates a new road in an area with great potential for healthcare professionals and patients".

[Article written by Pfizer]

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