It is the only biobank of this type of samples in Spain, and could represent an international achievement to improve clinical decision-making for people affected by the three-dimensional deformity of the spine, which affects about 10 million young people worldwide
EpiDisease, a biomedical company located in the business area of the University of Valencia Science Park (PCUV), has promoted the creation of a biobank of samples from patients diagnosed with adolescent idiopathic scoliosis (AIS) with the collaboration of ADECYL (Castilla y León Scoliosis Association) and the Center for Biomedical Research Network on Rare Diseases (CIBERER). It is the only biobank of this type of samples in Spain, and could represent an international achievement.
About 10 million young people worldwide (3% of this age group), most of them women, suffer from AIS, a three-dimensional deformity of the spine of unidentified cause, although it is recognized that genetic, growth, neuromuscular, metabolic, hormonal and environmental factors are involved in its onset. In the most severe cases, respiratory function and quality of life deteriorate significantly, and require treatments based on exercises, orthopedic devices (corsets) or surgery. In addition, body image distortion is often difficult for adolescents to manage psychologically.
"The importance of the biobank lies in allowing researchers to have access to a cohort of well-characterized patient samples on which to carry out different biomedical research or any technological advance that allows them to advance in the knowledge of a specific pathology," Carmen Aguado, coordinator of the CBK
Although the past 50 years have seen significant advances in corrective surgical techniques applied to AIS to improve patient outcomes, clinicians have thus far been forced to rely on digital radiographs to image the spine to monitor the progression of its curve over time in the face of the challenge of developing clinical biomarkers. The accumulation of ionizing radiation has become a concern for this vulnerable group of adolescents, and several studies have shown an increased risk of cancer in adulthood.
From the patients' point of view, Amelia Muñoz, president of ADECYL, values the creation of a collection of DNA samples from people with scoliosis as "a very important milestone in the research of this condition. For several decades, genetic and epigenetic theories related to the development of idiopathic scoliosis have gained strength and this type of initiative brings us even closer to a clearer future where clinicians can make better decisions. From the Association, we show our commitment to research and appreciate the role of Epidisease and Ciberer Biobank, hoping that this is the beginning of new lines of research to improve the quality of life of patients with idiopathic scoliosis," says Muñoz.
"The lack of access to well-characterized samples and/or data is often one of the main impediments in research, so having this collection is a very important value and will allow progress in the discovery of new biomarkers," Germán Casabó Vallés, bioinformatician at EpiDisease
Carmen Aguado, coordinator of the CBK, a biobank that depends on the Center for Biomedical Research in Rare Diseases Network (CIBERER), agrees with this view, indicating that the importance of the biobank lies in "allowing research personnel to access a cohort of well-characterized patient samples on which to carry out different biomedical research or any technological advance that allows progress in the knowledge of a specific pathology."
The collection represents an important resource in facilitating the discovery of new biomarkers, both genetic and epigenetic. In this sense, Germán Casabó Vallés, bioinformatician at EpiDisease, notes that "the lack of access to samples and/or well-characterized data is often one of the main impediments to research, so having this collection is a very important asset and will enable progress in the discovery of new biomarkers."
"Obtaining quality biological samples, as well as the associated demographic and clinical data of the patients from whom these samples have been obtained, is essential to obtain robust results in the validation of biomarkers. For this reason, it is extremely important that patient associations such as ADECYL and clinical researchers participate in this type of research projects," José Luis García Giménez, founding partner of EpiDisease
For José Luis García Giménez, coordinator of the Epigenomics and Translational Epigenetics Research Group at INCLIVA and founding partner of EpiDisease, obtaining quality biological samples, as well as the associated demographic and clinical data of the patients from whom these samples have been obtained, is "essential in order to obtain robust results in the validation of biomarkers. Therefore, it is very important that patient associations such as ADECYL and clinical researchers such as Teresa Bas, from the Hospital Universitario y Politécnico La Fe; Rosa Egea, from Hospital Niño Jesús; Inma Villalta, from Hospital Sant Joan de Déu; Judith Sánchez, from Hospital Vall de Hebrón; and Roberto Escudero, from Hospital de Valladolid, participate in this type of research projects. We thank all the members of ADECYL for their participation, encouragement and interest in collaborating with their samples in the CBK biobank, which has made it possible to achieve this ambitious objective."
The company of the Parc
EpiDisease S.L. was born in 2014 as a spin off of INCLIVA, of the CIBER of the Instituto de Salud Carlos III and the Universitat de València, with the intention of transferring knowledge in the field of epigenetics and biomedical sciences to the service of society. Along with the development of HISTSHOCK, EpiDisease S.L. is currently developing a portfolio of clinical tools for the diagnosis, prognosis and management of adolescent idiopathic scoliosis that help healthcare professionals to make evidence-based decisions based on individual genetic and epigenetic biomarkers, The CDTI-E.P.E. is a Public Business Entity, under the Ministry of Science and Innovation, which promotes innovation and technological development of Spanish companies. It is the entity that channels applications for aid and support for R&D&I projects of Spanish companies at the national and international level.
About ADECYL
The Scoliosis Association of Castilla y León (ADECYL) was born in 2004 with the aim of bringing together the largest number of people affected by scoliosis in Castilla y León; to become an axis of action to act as a link between all those affected and to make visible to society a disease that until today has been in anonymity. The association is declared of public utility.
About CIBERER
CIBERER Biobank (CBK) is a public, non-profit biobank set up by the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and located at the Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO). As an integral part of the CIBERER, the Biobank has the institutional support of the Instituto de Salud Carlos III. The CBK centralizes the reception of samples of high biological value for research in rare diseases in Spain, and actively involves the research and health professionals who send the samples and disseminates them among national and international research groups in rare diseases. It thus guarantees the scientific impact of the samples received. The objective of CIBERER is to improve knowledge about the epidemiology, causes and mechanisms of production of rare diseases and our mission is to be a platform where collaboration and cooperation between basic and clinical research groups is favored, with special emphasis on the genetic, molecular, biochemical and cellular research aspects of rare, genetic or acquired diseases.