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Research projects
FRANCE
HAUTS-DE-FRANCE
AMIENS
Support for parents faced with the diagnosis of permanent neonatal deafness: analysis of the difficulties and needs
Université de Picardie Jules Verne (UPJV)
Centre de recherche en psychologie : cognition, psychisme et organisations - UR UPJV 7273
ITALY
PUGLIA
SAN GIOVANNI ROTONDO
Non syndromic deafness: a systematic screening of new candidate genes and analysis of a family with a pericentric inversion on chromosome 7 associated with ectrodactilia and deafness
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - FR
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
GERMANY
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
GERMANY
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
HUNGARY
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITALY
CAMPANIA
NAPOLI
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - IT
Azienda Ospedaliera Universitaria "Federico II"
Dipartimento di Neuroscienze
ITALY
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
SPAIN
Madrid
MADRID
Elucidating the molecular bases of autosomal recessive non-syndromic hearing impairment by massively parallel DNA sequencing, RNA and protein functional assays, and genomic editing
IRYCIS - Instituto Ramón y Cajal de Investigación Sanitaria
Grupo de investigación en Genética y Patofisiología Neurosensorial
SPAIN
Madrid
MADRID
Artificial intelligence, functional tests, murine models and state-of-the-art technologies for advancing the study, diagnosis and treatment of hereditary postlingual hearing loss
IRYCIS - Instituto Ramón y Cajal de Investigación Sanitaria
Grupo de investigación en Genética y Patofisiología Neurosensorial
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- Ziekenhuis Netwerk Antwerpen (ZNA) - Campus Middelheim
- Neurologie
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
BELGIUM
ANTWERPEN
ANTWERPEN
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down
GERMANY
Sachsen
DRESDEN