Porphyrias

The Porphyrias 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.