Undiagnosed Rare Diseases Programme

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.

Results since 2011

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.

Selected publications
RARE DISEASECIBERER UNITGENESYEARJOURNAL
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

2015, a new dimension of the Programme. EnoD

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:

  • In first instance: diagnostic orientation and expert advice.
  • For specific cases: reinterpretation of complex data.
  • In selected cases: generation of new evidence.