Hepatology: Porphyrias and Carcinogenesis

"We are working on the characterization of porphyrias, of hepatic origin or that produce hepatic affections, and on the development of novel therapeutic strategies to address them".


The Hepatology: Porphyrias and Carcinogenesis Research Group of the Cima is formed by expert researchers and clinicians with more than 30 years of experience in the study of these diseases, especially focused on hepatic porphyrias or those that produce hepatic affection, such as erythropoietic protoporphyria. They are considered rare diseases because they affect less than 5 out of every 100,000 inhabitants.

The objective of this group is to develop innovative strategies based on gene therapy and cutting-edge biotechnological products that improve the quality of life of people affected by these diseases. Therefore, we focus on developing new drugs that resolve the effects caused by the genetic mutation responsible for the disease, as well as designing strategies for the prevention of liver tumors and insulin resistance, which are of high incidence in acute hepatic porphyrias. 

The complexity and lack of accurate knowledge about porphyrias, as well as about rare diseases in general, represent a challenge for public health, which requires a multidisciplinary approach that includes both medical care and institutional and social support. In this sense, our group is working on the development of creative restoration workshops, combined with practical advice on nutrition, relaxation and physical activity, with the aim of fostering sociability, empowerment and generating positive changes in the physical and psychological well-being of the affected person, their families and caregivers.

Its researchers collaborate with the Navarra Hospital Complex, the Tudela Hospital, the 12 de Octubre Hospital in Madrid and other national and international groups dedicated to porphyria.

Dr. Antonio Fontanellas


+34 948 194 700 | Ext. 81 4009
Research profile

Objectives of the Hepatology: Porphyrias
and Carcinogenesis 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 explore the molecular mechanisms linked to metabolic changes in porphyrias and to propose solutions to correct them, thus offering new perspectives in the treatment of these medical conditions.

"Porphyria lacks a cure so research is essential"


Reference Center

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.

Porphyrias are inherited diseases that are studied at the Clinic and the Cima through this research area of the Hepatology Program with Drs. Antonio Fontanellas and Delia D'Avola. 

Scientific activity of the Hepatology: Porphyrias
and Carcinogenesis Research Group