The program will provide free-of-charge Whole Exome Sequencing and Bioinformatic analysis to the 23 selected projects

Barcelona, March 2014.- A selection committee, comprised of CNAG members and external referees, has evaluated the proposals submitted to the 2013 CNAG CALL: 300 EXOMES TO ELUCIDATE RARE DISEASES. The program will provide free-of-charge Whole Exome Sequencing and Bioinformatic analysis to the selected projects. We received 44 proposals comprising a total of 941 exomes and we could accept 23 projects due to the limits of the budgetary resources available.


This is the list of the selected projects and the name of their principal investigator:


- Genetic risk identification in non-sindromic familial thoracic aortic aneurisms and dissections.
Fernando Cabrera Bueno


- Exome sequencing in Brugada Syndrome.
María Brion


- Search for the Opitz C trigonocephaly syndrome gene/s.
Daniel Grinberg


- Whole Exome Sequencing in Intellectual Disability.
Montserrat Milà Recasens


- Complement Dysfunction and Disease.
Margarita López Trascasa


- Identification of genes involved in inherited metabolic diseases.
Frederic Tort Escale


- Whole-exome sequencing for the identification of genomic defects in the heterogeneous inherited ataxias.
Antoni Matilla Dueñas


- 30 Exomes for diagnosis and identification of novel genes for leukodystrophies and spastic paraplegias.
Aurora Pujol


- Identification of new genes causing primary familial brain calcification.
Beatriz Quintáns Castro


- Familiar cerebral microangiopathy with cognitive deficiency.
Joan Montaner


- Exome sequencing for discovery of candidate genes in Rett syndrome and Rett variants.
Manel Esteller Badosa


- Identification of new genes and mutations causing spinocerebellar ataxia and spastic paraparesis.
María Jesús Sobrido


- Identification of new genes involved in rare forms of autosomal dominant familial ataxia and spastic paraparesia.
Pau Pastor


- Charcot-Marie-Tooth in a very informative spanish pedigree (spanish CMT).
Alberto García Redondo


- New forms of distal hereditary motor neuropathies (dHMNs): clinical, genetic and cellular characterization.
Carmen Espinós


- Exercise intolerance in a family with autosomal dominant inheritance.
Carmen Navarro Fernandez-Balbuena


- Genetic Resolution of Congenital Muscular Dystrophies: Application of Whole Exome Sequencing.
Cecilia Jiménez-Mallebrera


- Identification of Novel Genes responsible for Usher Syndrome.
Elena Aller Mañas


- Whole-exome sequencing to identify genes causing Retinal Degenerative Diseases (RDD).
Roser González Duarte and Bru Cormand


- Search for new susceptibility genes in hereditary breast cancer families with a recessive pattern of inheritance.
Ana Osorio Cabrero


- EarLY ONset colorectal cancer in a 12 years-old boy suspected of suffering from CMMR-D syndrome: Whichgenes are really behind this rare phenotype?
Clara Ruiz-Ponte


- Challenging the molecular diagnosis of Complex and Rare Diseases: WES analysis for Congenital Syndromes.
Carmen Ayuso


- Molecular characterization of patients with sensorial disorder (BBS-like).
Diana Valverde Pérez

Guidelines of the "300 exomes to elucidate rare diseases" call