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Research projects
CANADA
Alberta
EDMONTON
Identification and characterization of Merlin interacting proteins
University of Alberta
Department of Medical Genetics
SPAIN
Cataluña
BADALONA
A patient centered research: awareness of patients needs, clinical phenotyping and molecular parthenogenesis in neurofibromatosis type 2
Hospital Germans Trias I Pujol
Unidad de Genómica Clínica
SPAIN
Cataluña
BADALONA
Personalized medicine in Neurofibromatosis type 2: improving the genetic diagnosis, the evaluation of the quality of life and the generation of schwannoma iPSC-derived cell model
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
SPAIN
Cataluña
BARCELONA
A patient centered research: awareness of patients needs, clinical phenotyping and molecular parthenogenesis in neurofibromatosis type 2
Universitat de Barcelona. Facultat de Medicina
Grupo de investigación en Bases celulares y Moleculares de los Trastornos Sensoriales
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Redox Signaling in Neurofibromatosis
Institution: Information not provided - US
GERMANY
Baden-Württemberg
HEIDELBERG
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
GERMANY
Bayern
AUGSBURG
CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors
Universitätsklinikum Augsburg
II. Medizinische Klinik
GERMANY
Niedersachsen
HANNOVER
OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome
Medizinische Hochschule Hannover
Institut für Humangenetik
GERMANY
Niedersachsen
HANNOVER
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
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
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Madrid
MADRID
Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras
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
Multicentric Research projects
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCE
ILE-DE-FRANCE
ORSAY