Francesc Paris, graduate of Pharmacy and Human Nutrition and Dietetics at the University of Navarra (promotion 2013) has discovered a new mutation causing Pachyonychia Congenita: a rare disease characterized by plantar hyperkeratosis (appearance of hardness on the palms of the feet and hands), and of which there are an estimated 1,000 patients in the world, according to the portal of information on rare diseases and orphan drugs, OrphaNet. This new mutation, as Paris explains,"will allow a better diagnosis of patients suffering from this disease subject , and may serve to better understand the mechanisms by which the disease occurs, an essential initial step for the development of new curative therapies".

The work, recently published in the journal *Experimental Dermatology*, one of the leading publications in the field, was conducted under the supervision of Professor José Luis Vizmanos as student intern the department Biochemistry Genetics, with the experimental work carried out partnership with Cristina Hurtado (staff in department same department) and staff from the Departments Dermatology at the Clínica Universidad de Navarra and the Universitat Rovira i Virgili. It has also been selected for the Archimedes Awards from the Ministry of Education, Culture, and Sport, whose finalists will be announced this October.

Two years of research as student intern
It took two years for this research to fruition, during which there were critical moments, as Paris recalls: "We had tough days, like when we saw sequences of a pseudogene very similar to the one we were looking for and had to use a different strategy to amplify it." However, he also notes that it has been one of the most rewarding experiences of his degree program:“I’m grateful to the university for the opportunity it gives students to collaborate across different Departments. Without a doubt, I’ve learned a lot from José Luis; that’s what I’ll take away from this, and, of course, the incredible feeling of seeing my work in the journal Experimental Dermatology." Likewise, regarding Cristina Hurtado, co-author of work, he highlights "her patience, the time she dedicated to the research everything she has taught me about the world of laboratory."