Over 80% of rare diseases have a genetic cause, which has not been completely identified in many cases.
One of the CIBERER’s main aims is to determine the specific cause of genetically–based rare diseases and to take this as its starting point to develop diagnostic solutions and identify therapeutic targets.
Since 2011 CIBERER has been coordinating strategic actions with the aim of discovering new genes and variants involved in the aetiology of rare diseases and ultimately of contributing to an accurate molecular diagnosis for unsolved clinical cases.
In 2015, based on the success of the previous phase, we took a step forward by launching the ENoD Programme, which provides a new structure and reinforces the commitment to this strategic objective.
Since 2011 and as a result of collaboration projects which have involved CIBERER research groups and national sequencing platforms, many results have been obtained and many unknowns solved as a result of this programme.
|RARE DISEASE||CIBERER UNIT||GENES||YEAR||JOURNAL|
|Ellis-van Creveld syndrome||U711. GCV5||WDR35||2015||Hum Mol Genet|
|Lipoylation defect of the 2-ketoacid dehydrogenase complexes||U737, U703||LIPT1||2014||Hum Mol Genet|
|Branched chain ketoacid dehydrogenase kinase deficiency||U703, U730, U731, U715, U746||BCKDK||2014||Hum Mutat|
|Milroy-like disease||U711. GCV5||VEGFC||2014||J Med Genet|
|Osteogenesis Imperfecta||U760, U753, GCV1||FKBP10, SERPINF1, LEPRE1, CRTAP, PPIB||2013-2014||Am J Hum Genet|
|BMP1; WNT1; IFITM5||Am J Hum Genet A|
|Retinosis Pigmentaria||U702, U715||USH2A; C2ORF71; Rho;||2013-2014||Mol Vis|
|RPGR, BBS1, MKKS||Mol Genet Genomic Med|
|3-Methylglutaconic aciduria||U737, U715||SERAC1||2013||Mol Genet Metab|
|Fanconi Anemia||U745, U706, U710||ERCC4||2013||Am J Hum Genet|
|Hereditary pheochromocytoma||U706||MAX||2011||Nat Genet|
Based on the success of the previous phase, in 2015 we took a step forward by launching the Programme for Undiagnosed Rare Diseases, ENoD, which provides a new structure and reinforces the commitment to this strategic objective.
In 2015 CIBERER reinforced its commitment to getting under way the ENoD Programme with the same objective that was defined in 2011: discovering the genetic causes of rare diseases.
With a structure based on transversal committees and endowed with its own resources, it manages undiagnosed cases referred by research groups for the following purposes: