Ciberer research in rare diseases

The director of Ciberer, Pablo Lapunzina; and Antoni Riera-Mestre, member of the Internal Medicine Service of the Hospital Universitari Bellvitge-Idibell.

take advantage of means Y synergies that comes to offer Europe is one of the maxims aspirations who yearns for research in minority diseases carried out in Spain. In the XII Meeting of Minority Diseasesorganized by the Spanish Society of Internal Medicine (SEMI), a keynote conference has been held to make the leap to Europe and with a key protagonist in this regard, the Rare Diseases Network Biomedical Research Center (Cyber).

The director of Cyberer, Paul LapunzinaWith Antoni Riera-Mestremember of the Internal Medicine Service of the Bellvitge-Idibell University Hospital and coordinator of the meeting, expose the need to look towards Europe to promote research regarding rare diseases.

Riera-Mestre affirms to Medical Writing that “we are motivated to improve the diagnosis of rare diseases and allow access to genetics for all patients. Lapunzina is a person very involved in rare diseases and we seek to promote synergies between different units, make more efficient diagnoses, defend genetics as a specialty and improve access to genetic studies by the population”.

Another aspect that Riera-Mestre highlights when it comes to being able to promote research into rare diseases is that “going hand in hand with patient associations, such as the Spanish Federation of Rare Diseases (Feder). It is a very powerful loudspeaker for the demand for the rights of patients and to demand correct assistance”.

Riera-Mestre: “We seek to improve access to genetic studies by the population”

Riera-Mestre’s opinion is fully shared by Lapunzina, who reaffirms the importance of patient associations: “We have an alignment between Ciberer and Feder. We do everything together to find an answer for patients. Everything that Ciberer tries to do is linked to what Feder tries to do through its patient associations.”

Contributing to the international community: The Impact project

Access Europe it is an ambitious goal, but far from impossible for the rapporteurs. Riera-Mestre considers that the key lies in “get organized. The knowledge we have it, we must agree and prove from the Ministry of Health another way to access Europe so that it is guaranteed. Access needs to be streamlined, there is interest and potential, we just need a way to prove it.”

On the other hand, Lapunzina affirms that “the Ciberer is one of the areas of a great body of investigations that at this moment are 13 within the Carlos III Health Institute. exist 13 specific areas who are working on the investigation. Regarding the Cyber ​​of rare diseases, there are a large number of clinical groups, universities and research centers involved, almost 70. It is a huge family of almost 600 people”.

Contribute to international community in rare diseases is one of the purposes of the Ciberer, which has already been launched to contribute its grain of sand against rare diseases: “We have done a huge effort in order to increase the financing for therapy projects. It is a commitment to the goal set, which is to be able to contribute to those thousand treatments that the international community intends for the year 2027 for people with rare diseases”, communicates Lapunzina.

Lapunzina: “We want to contribute to these thousand treatments that the international community intends for the year 2027”

Although it was not possible to create a National Plan for Genomic Medicine, yes, the Ciberer contributed to creating a tool, known as Impact Projectand which Lapunzina hopes will be relevant in the coming years: “It has three legs, the leg of genomics it is coordinated by the Ciberer, the cohorts are coordinated by the Ciber of epidemiology and the leg of data it is coordinated by the Barcelona Super Computing Center”.

Although it may contain statements, data or notes from health institutions or professionals, the information contained in Medical Writing is edited and prepared by journalists. We recommend the reader that any questions related to health be consulted with a health professional.

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