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During the day will be announced innovations ranging from 3D bioinformatics models used in reconstructive surgery to personalized therapies based on DNA
The University of Murcia participates this Thursday, June 20, in the 'I International Conference IMIB-Arrixaca of Translational Research in Rare Diseases', organized by the Murcian Institute of Biosanitary Research (IMIB), which will take place from 9.30 in room 1 of the teaching pavilion of the Virgen de la Arrixaca University Hospital.
During the day, researchers, managers and representatives of patients will convey to the audience their vision on the importance of research and the results that are being implemented at the health level.
A total of twelve papers will review the evolution in the Region of the study of these rare diseases, together with the emerging treatments that are being applied to improve the quality of life of patients.
News that range from 3D bioinformatics models used in reconstructive surgery, to personalized therapies based on DNA or the use of genetic editing through the CRISPR-CAS9 system.
Rare diseases affect around 100,000 people in the Region of Murcia and about three million throughout Spain.
"We are talking about very significant figures, which have a high impact on public health, in addition, we must consider that most are genetic, and, therefore, there may be several members of the family affected at the same time or at risk of transmitting them. Here we see the importance of investigating rare diseases, to identify their cause, prevent them through genetic counseling and design treatments based on knowledge of the affected molecular pathways, "emphasizes Encarna Guillén, coordinator of the conference, principal investigator of the group Clinical Genetics and Rare Diseases of the IMIB and professor of the UMU.
A prism of the future
The event, divided into three sessions, will begin by highlighting the need to promote research along these lines.
During the first session, moderated by the scientific journalist María José Moreno, the perspectives that management, patients, healthcare professionals, researchers and the pharmaceutical industry raise in this regard will be announced.
The second session will deal with the latest updates in lysosomal diseases such as Hunter's Syndrome, Gaucher's disease or Fabry's disease, as well as the congenital defects of glycosylation.
All this moderated by Dr. María José Sánchez Soler.
The day will end with the update of emerging treatments that are changing the natural history of certain rare diseases, such as bone dysplasias, acute porphyria or amyloidosis;
and perspectives for the future, session moderated by Dr. Mary Ballesta.
Photographic exhibition to make visible the Pheland-McDermid Syndrome
On the other hand, the comedian Raquel Sastre, Victoria Vivancos and pediatrician José Ramón Fernández will present a photographic exhibition to make visible the Pheland-McDermid Syndrome, an alteration of chromosome 22 that affects 2,000 people in the world and causes speech problems and autism spectrum disorder.
The inauguration of the act will take place at 10.30 am and will be attended by José Luján, rector of the UMU;
Manuel Villegas, Health Advisor of the CARM;
Ángel Baeza, managing director of Arrixaca;
Pablo Ramírez, director of the IMIB;
and Juan Carrión, director of the Spanish Federation of Rare Diseases (FEDER).
Source: Universidad de Murcia
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