"We are working on the characterization of new markers for the early detection and progression of acute intermittent porphyria and the development of novel therapeutic strategies."
DR. ANTONIO FONTANELLAS ROMÁ RESEARCHER. PORPHYRIAS RESEARCH GROUP
The Porphyrias Research Group at Cima is formed by expert researchers and clinicians with more than 30 years of experience in the study of these diseases, especially focused on acute intermittent porphyria, a rare genetic disease of hepatic origin that affects approximately 5 out of every 100,000 inhabitants.
The aim of this group is to find mechanisms for the early detection of acute intermittent porphyria before the first symptoms appear and to develop innovative strategies based on gene therapy and cutting-edge biotechnological products that improve the quality of life of people affected by this disease.
Thus, the group's efforts are focused on the development of new drugs to resolve some of the effects caused by the genetic mutation that causes the disease (elimination of the metabolic blockage in the liver) and the design of therapeutic strategies to alleviate the symptoms.
Its researchers collaborate with the Navarra Hospital Complex, the Tudela Hospital and other national and international groups dedicated to porphyria.
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Objectives of the
Acute Porphyrias Research Group
To discover messenger RNAs (mRNAs) that act on the origin of the disease and rapidly correct the symptoms of porphyria in preclinical models.
Identify therapeutic targets and develop strategies for prevention and treatment.
To discover the molecular mechanisms causing inherited metabolic diseases such as porphyria.
Porphyria lacks a cure so research is essential
EUROPEAN PORPHYRIA NETWORK
The Hepatology Unit of the Clinic has been accredited by the EPNET (European Porphyria Network) as a reference center for the diagnosis and treatment of this disease.
Acute porphyrias is a hereditary disease that is studied at the Clinic and the Cima through this research area of the Hepatology Program with Drs. Antonio Fontanellas and Delia D'Avola.
FROM THE LABORATORY TO THE PATIENT
Cutting-edge translational research
Conscientes del impacto que producen en la población y, consecuentemente en el gasto sanitario, el Programa de Hepatología se centra en conocer los mecanismos celulares y moleculares de la respuesta hepática a la lesión aguda y crónica.
Study of the causes that lead to liver damage and its behavior, which will make it possible to enhance the defense mechanisms and find new treatments.
When cirrhosis appears, it is irreversible and, if decompensated, the only definitive solution is liver transplantation. Our research is looking for mechanisms to prevent its onset or to slow its progression.
We do research not only in immunotherapy, but also in the development and knowledge of targeted treatments that aim to identify molecular alterations in liver cells.
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Meet the research team
Scientific activity of the
Porphyria Research Group
Latest scientific publications
- Receptor-heteromer mediated regulation of endocannabinoid signaling in activated microglia. Role of CB 1 and CB 2 receptors and relevance for Alzheimer's disease and levodopa-induced dyskinesia Jan 12, 2022 | Magazine: Science Translational Medicine
- Brain ventricular enlargement in human and murine acute intermittent porphyria Sep 11, 2020 | Magazine: Human Molecular Genetics
- Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan Sep 1, 2020 | Magazine: Annals of Translational Medicine
- Disease pharmacokinetic-pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies Jul 1, 2020 | Magazine: British Journal of Pharmacology