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23 Result(s)
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Research projects
JAPAN
JAPAN
KYOTO
Decoding the genetic cause of rare primary immunodeficiencies with disease-specific iPS cells
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
AUSTRIA
WIEN
WIEN
iDysChart: Charting key molecules and mechanisms of human immune Dysregulation
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
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
GERMANY
Baden-Württemberg
TÜBINGEN
Tübingen Registry for Familial Mediterranean Fever and Other Autoinflammatory Diseases
Interdisziplinäres Rheumazentrum (INDIRA)
Zentrum für Interdisziplinäre Rheumatologie, klinische Immunologie und Autoimmunerkrankungen
ITALY
LAZIO
ROMA
Characterization of the innate immune response and identification of prognostic factors in patients with fever of unknown origin
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Reumatologia
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
BARCELONA
Identification of new phenotypes of undifferentiated autoinflammatory diseases in adults, and utility of advanced genomic techniques to establish a monogenic origin and targeted therapies
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Institut d'Investigacions Biomèdiques August Pi i Sunyer
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
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
GERMANY
Bayern
GARMISCH-PARTENKIRCHEN
The importance of motion diagnostics to promote early physical activity in children with rheumatic diseases
Kinderklinik Garmisch-Partenkirchen gGmbH
Deutsches Zentrum für Kinder- und Jugendrheumatologie
GERMANY
Nordrhein-Westfalen
SANKT AUGUSTIN
Depressive symptoms and association with disease activity, pain and disability in juvenile patients with chronic rheumatic diseases
Asklepios Kinderklinik Sankt Augustin GmbH
Abteilung für Allgemeine Kinder- und Jugendmedizin
Multicentric Research projects
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
ITALY
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
ITALY
LIGURIA
GENOVA
INSAID: A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders
ITALY
LIGURIA
GENOVA