On April 30th, the 2nd Research Conference on Rare Diseases took place, organized by the Faculty of Biological Sciences at the University of Valencia, in collaboration with the COBCV (Official College of Biochemists of the Valencian Community), among other entities. This initiative, launched in 2025, aims to raise awareness of research on rare diseases, involving not only senior researchers but also predoctoral students, as well as patient associations.

Rare diseases present a medical challenge. Most are genetic and pediatric, and more than 7,000 different entities are known, each affecting a small percentage of patients. They are therefore largely unknown clinically, and their diagnosis is often costly and difficult. Most lack specific treatments, so patients only receive palliative care. The need for research into rare diseases to improve their diagnosis and develop therapies is obvious.

This second edition was inaugurated by Prof. Ismael Mingarro, dean of the Faculty of Biological Sciences and Prof. Isabel Fariñas, vice-rector of research at the University of Valencia, who pledged to continue providing the full support of the Faculty of Biological Sciences and the University of Valencia, and by Dr. Carmen Agustín, vice-dean of the Faculty of Biological Sciences and one of the organizers of the event, who highlighted the importance of the voice of patient associations reaching students and young researchers in training directly.

The presentations by senior researchers were given by Dr. Isabel Martínez-Garay (University of Valencia), Regina Rodrigo (Prince Felipe Research Center, CIBER for Rare Diseases), and Natalia Tapia (Institute of Biomedicine of Valencia-CSIC), on protocadherin 19 (PCDH19) deficiency, retinal dystrophies, and Beck-Fahrner syndrome, respectively. The predoctoral students presented five oral communications and five written papers, showcasing, in most cases, their initial findings in research on various rare diseases such as Friedreich's ataxia, Rett syndrome, craniofacial malformations, and Stargardt disease.

Finally, the day concluded with a panel discussion featuring representatives from the following patient associations: Mi Princesa Rett, Asociación Española de Síndrome de Rett, Asociación Valenciana de Prader-Willi, Asociación de Afectados CDKL5, and Asociación de Pacientes PCDH19. This panel, moderated by Carmen Espinós, Vice Dean of the COBCV (Official College of Pharmacists of the Valencian Community), highlighted the significant shortcomings faced by patients with rare diseases in terms of diagnosis and therapies, as well as the lack of resources in their medical care. In most cases, these patients have physical limitations that require physiotherapists, speech therapists, and other specialists. As Carmen Espinós emphasized in her closing remarks, “We must not forget that these are hereditary diseases and, therefore, chronic conditions. Patients fight from the very beginning and throughout their lives.” She also pledged to invite officials from the Valencian Ministry of Health to the next event to bring the needs of this patient group to the attention of the administration.