Monograph: Rare diseases (5)

It reports on the daily work of a team specialized in the study of rare diseases.

And then we will meet one of the groups that investigate rare diseases in the Basque Country.

This group works at the Hospital de Cruces and is part of the organization called CIBER. CIBER was created last year by the Spanish Ministry of Health with the aim of creating a working network among the research groups of rare diseases spread throughout the peninsula. There are 45 teams participating in this organization.

We have approached the Hospital de Cruces to learn about the work of this group.

Luis Castaño is the coordinator of one of the research groups working at the Hospital de Cruces. He founded this biomedicine group 17 years ago and they investigate rare endocrinological conditions. It is a mixed group, that is, it mixes basic research in the laboratory with clinical research, which is done directly with the patient in the usual consultation. Twenty people are on this team... specialists in pediatrics, medicine, genetics and biochemistry. Guiomar Pérez de Nanclares is one of them.

1 CUT

Childhood diabetes is a rare disease with a very low prevalence: only one in 400,000 people suffers from it. In Spain, about 30 families are known with this pathology. The number of children with ambiguous genital disease is higher, however, there are very few cases. For these experts, being able to investigate such exclusive ailments is a great and interesting professional challenge, but also with extraordinary difficulties.

CORTE 2

Keep working hard. This is the goal of Guiomar Pérez de Nanclares, Luis Castaño and other researchers. The recognition they have received a few months ago will surely help them in this work, since it has been selected among the four best research groups of the universities of the Basque Autonomous Community.