The 17 projects, including a total of 900 samples, will get free-of-charge Whole Exome Sequencing (WES) and bioinformatics analysis. PIs will soon receive further instructions.

List of awarded projects:

Exome sequencing of a cohort of Rett syndrome-like patients
- Judith Silvia Armstrong Morón, Institut d’Investigació Sanitària Sant Joan de Déu, HSJD-CIBERER, Spain
- Maria-Isabel Tejada, BioCruces Health Institute, Spain
- Alessandra Renieri, University of Siena and Azienda Ospedaliera Universitaria Senese, Italy

Genetic Heterogeneity of the familial gastric neuroendocrine tumors
- Javier Benitez, Centro Nacional de Investigaciones Oncologicas, CNIO, Spain
- Hernan Valdés Socin, CHU de Liège, Belgium
- Oriol Calvete, Centro Nacional de Investigaciones Oncologicas, CNIO, Spain

Molecular diagnosis of albinism
- Lluis Montoliu José, Centro Nacional de Biotecnología, CNB-CSIC and CIBERER, Spain
- Ángel Carracedo Álvarez, Fundacion Publica Galega de Medicina Xenomica and CIBERER, Spain
- Benoit Arveiler, CHU de Bordeaux, France

Deciphering the molecular causes of Ophthalmogenetic Diseases: Exome Sequencing analysis for gene discovery
- Carmen Ayuso, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, IIS-FJD, Spain
- Carlo Rivolta, University of Lausanne, Switzerland

Exome trios in 50 patients with gastroschisis

- Pablo Lapunzina, Instituto de Genética Médica y Molecular, INGEMM, Hospital Universitario La Paz, UAM and CIBERER-Centro de Investigación Biomédica, Spain
- Gioacchino Scarano, A.O.R.N. “Gaetano Rummo”, Italy

Identification of novel genes in patients with Congenital Myasthenic Syndrome (CMS)
- Hanns Lochmüller, John Walton Muscular Dystrophy Research Centre, Newcastle University, UK
- Jan Senderek, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Germany

Identification of Molecular Pathology of Undiagnosed Patients with Mitochondrial Disorders by Whole Exome Sequencing
- Ali Dursun, Hacettepe University, Ihsan Dogramaci Childrens Hospital, Turkey
- Doriette Soler, Mater Dei Hospital, Malta

Undiagnosed cases with complex phenotypes including intellectual disability
- Manuel Posada De La Paz, Institute of Rare Diseases Research, Institute of Health Carlos III, Spain
- Francesca Forzano, Great Ormond Street Hospital, UK
- Francesca Mari, University of Siena and Azienda Ospedaliera Universitaria Senese, Italy

Identification of Genetic Causes of Undiagnosed Epileptic Encephalopathies
- Dilek Yalnizoglu, Hacettepe University, Ihsan Dogramaci Childrens Hospital, Turkey
- Maria Antonietta Mencarelli, University Hospital of Siena, Italy
- R. Koksal Ozgul, Hacettepe University, Institute of Child Health, Turkey

Unravelling the genetic cause of a neuropathic pain phenotype segregating in an extended multigenerational family through WES
- Bru Cormand Rifà, University of Barcelona, Spain
- Jordi Serra, King’s College London, UK

Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria
- Frederic Tort, Hospital Clinic, IDIBAPS and CIBERER, Spain
- Eva Morava Kozicz, University Hospitals Leuven, Center for Metabolic Disorders, Belgium
- Laura Vilarinho, National Institute of Health Ricardo Jorge, Portugal

Undiagnosed cases of congenital and dystrophic neuromuscular diseases
- Marina Mora, Fondazione IRCCS Istituto Neurologico C. Besta, Italy
- Francesco Muntoni, UCL Institute of Child Health, UK
- Christian Scerri, University of Malta, Malta

Gene Characterization in Carbohydrate metabolic alterations (neonatal diabetes &congenital hyperinsulinemic)in early childhood
- Luis Castaño, Instituto BioCruces - UPV-EHU - Hospital Universitario Cruces and CIBERER, Spain
- Fabrizio Barbetti, University TOR Vergata , University Hospital Tor Vergata and Bambino Gesù Pediatric Hospital, IRCCS, Italy
- Michel Polak, Hopital Necker - Enfant Malades, IMAGINE institute, France

Identification and haracterization of the underlying genetic and molecular defect in undiagnosed inherited ataxias by WES
- Antoni Matilla-Dueñas, Health Sciences Research Institute Germans Trias, IGTP, Spain
- Henry James Houlden, Institute Of Neurology-University College London, UK

Whole exome sequencing for clarification of rare causes of axonal Charcot-Marie-Tooth disease
- Carmen Espinós, Centro de Investigación Príncipe Felipe, CIPF, Spain
- Pavel Seeman, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, UHM, Czech Republic

Identification of additional genes involved in Pyruvate Kinase Deficiency phenotypic variability
- José C. Segovia, Centro de investigaciones Energéticas, Medioambientales y Tecnológicas, Spain
- Paola Bianchi, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milan, Italy
- Richard van Wijk, University Medical Center Utrecht, The Netherlands

Identification of New Genes involved in Infant and Adult Sudden Cardiac Death
- Juan Ramon Gimeno Blanes, Universitary Hospital Virgen De La Arrixaca, Spain
- Javier Corral De La Calle, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Spain
- Perry M. Elliott, Barts-Heart Hospital, University College London Hospitals, UK

Related News:

2016 BBMRI-LPC Whole Exome Sequencing Call