The Fundación Isabel Gemio’s team attended the 12th edition of the CIBERER Conference “Research is Progress”, held on 28 February on the occasion of World Rare Disease Day.
During the event, we heard the testimony of Gabriela, the only person in Spain affected by Huppke-Brendel syndrome, an ultra-rare disease of genetic origin caused by low levels of copper and which produces a severe delay in psychomotor development.
In relation to her case, several researchers explained the advances that have been made using animal models, highlighting the case of the zebrafish, a magnificent model in the search for diagnosis and therapies for rare diseases.
