The Program for Undiagnosed Rare diseases, EnoD, is an initiative of CIBERER aimed at improving knowledge about the genetic causes of rare diseases. It entails the discovery of new genes and variants. It is effective through the study of specific clinical cases without molecular diagnostics. To this end, ENoD program places research directly at the service of the National Health System.
ENoD is framed in one of the priority international lines (IRDIRC, H2020) as it is the identification of the genetic causes of rare diseases.
It is a transversal and collaborative program counting on the participation of many Consortium groups.
Over 80% of rare diseases have a genetic cause. Achievement of a genetic diagnosis is essential for the correct management of these patients and in order to provide genetic counselling to their families. The reality is that there are many clinical cases that have not identified the molecular origin of the disease (approx. 30%) after applying the established diagnostic protocols.
This is due to the great complexity of these pathologies:
These undiagnosed patients represent an unsolved need, located on the frontier of the translational process between research and the clinical practice. For its correct diagnosis, they need a deep and up-to-date knowledge of pathologies or application of latest techniques. Thus, the Undiagnosed Rare diseases program, ENoD of CIBERER aims to become an important diagnostic resource at the service of everyone.
With a structure based on transversal committees and endowed with its own resources, it manages undiagnosed cases referred by CIBERER research groups with the following purposes:
|DIAGNOSTIC ORIENTATION AND EXPERT ADVICE|
|If there are previous genomic tests, a reinterpretation of these complex data is offered by our Bioinformatics´ infrastructure.|
|REINTERPRETATION OF PREVIOUS GENOMIC DATA|
|Si existieran pruebas genómicas previas, se ofrece una reinterpretación de estos datos complejos gracias a la infraestructura en Bioinformática de la que disponemos.|
|MASSIVE SEQUENCING TECHNIQUES|
|Finally, a Committee selects those cases remaining unsolved. The search for new genes associated with the disease through the use of sequencing techniques (Exome, genome and transcriptome) is initiated. These studies are financially supported by CIBERER’s own budget, as well as their subsequent bioinformatics analysis.|
In addition, an agreement has been signed with FEDER, through their Orientation and Information Service, SIO, aimed at collaboration to unravel diagnosis of unsolved clinical cases.
Coordinator: Dr. Luis Pérez Jurado (Miembro del Comité de Dirección del CIBERER)
Clinical and Executive Committee: 12 members of the CIBERER with a clinical and genetics background.
Project Manager: Dra. Beatriz Morte Contact email: firstname.lastname@example.org