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February 29 is an uncommon day and the day for rare diseases for which Spain is a leader

Promoting investigation, favouring practicality and the sustainability of the research centers and investigative bodies which probe uncommon illnesses are crucial to Spain’s success.

This is among the 10 concerns from the Spanish Federation for Rare Illnesses (Feder in Spanish) and they have launched today an awareness campaign on today world day for these pathologies. Investigation is an essential element at the hour of considering these conditions where a lot more needs to be done even if some rays of light and advances are more typical in a field led by Spain.Photo Ciemet


One example is

Fanconi anaemia, a group of scientists led by Doctor Juan Bueren is dealing with a pioneering medical trial in Europe. The hereditary condition is characterised by the failure of bone marrow, which increases a predisposition for cancer and congenital anomalies, and in Spain there are some 120 sufferers. Its detection is typically detected between the ages of five and seven.

‘We collect the deadly cells in the preliminary ages of the disease, freeze them, correct the hereditary anti-viral vectors and return them to the client when he begins to establish symptoms’, described Paula Rio, among the scientists in the group. The group from the Energetic, Environmental and Technological Investigation Centre (Ciemat in Spanish) forms part of the Investigation Centre for Internet Biomedicine for Rare Illnesses (Ciberer in Spanish) dependent once again on the Carlos III Health Institute.Until now they have had the ability to obtain enough cells to freeze for five people, and in January managed to introduce the fixed cells in one of them.’ For now all is going will from a security viewpoint. The client didn’t suffer any second results from the treatment and it has actually treated we will discover very soon’, in-depth Susana Navarro, member of the very same team.The researchers expect to figure out the therapy is effective would take in between 3 and six months, although be so pioneering the period is challenging to specify.’If this functions we will be pioneers in Spain and Europe ‘said Navarro with pride,

‘(Doctor )Juan(Bueren )functions as organizer in a European task in involvement with the Necker Hospital in Paris and University College London, leaders in hereditary therapy, however in this sense they are following us ‘, he continued.Doctor Bueren is among 64 research study groups in Ciberer. The WHO estimates there are 7,000 uncommon diseases, considered as

such when they influence less then five in 10,000 residents. An international level of infection of 7 % of the population is affected and in Spain the number is over three million.( 888011000110888)Promoting examination, favouring viability and the sustainability of the research facilities and investigative bodies which probe

uncommon illnesses are crucial to Spain’s success.