Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

SPAIN

Madrid
MADRID

Genetic diagnosis and possible treatments for albinism
Centro Nacional de Biotecnología (CNB-CSIC)
Grupo de Modelos animales para manipulación genética

GERMANY

Baden-Württemberg
FREIBURG

HLH Registry: A registry study for hemophagocytic lymphohistiocytosis
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

BELGIUM

OOST-VLAANDEREN
GENT

FRANCE

GRAND-EST
STRASBOURG

Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHLH-cytotox: Molecular bases and pathophysiology of hemophagocytic syndromes
CHU Paris - Hôpital Necker-Enfants Malades
Développement normal et pathologique du système immunitaire

FRANCE

ILE-DE-FRANCE
PARIS

The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics - FR
CHU Paris - Hôpital Necker-Enfants Malades
Développement normal et pathologique des organes endocrines

FRANCE

ILE-DE-FRANCE
PARIS

Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Recherche Clinique

FRANCE

OCCITANIE
MONTPELLIER

Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberGenomic approaches for rare conditions: Inherited Retinal Dystrophies as a model
Hospital Universitario Virgen del Rocío
Unidad de Gestión Clínica Medicina Maternofetal, Genética y Reproducción

SPAIN

Cataluña
BARCELONA

Design of a genetic diagnostic chip for retinal dystrophies
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

GERMANY

Hessen
GIEßEN

Diagnosis and therapy of hereditary retinal diseases
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

SPAIN

Andalucía
SEVILLA

SPAIN

Madrid
CANTOBLANCO

Systematic analysis of the genetic regulatory network involved in the specification and maintenance of retinal pigment epithelium: towards new therapies for retinal neurodegenerative diseases
CBMSO - Centro de Biología Molecular Severo Ochoa
Morfogénesis y diferenciación del Sistema Nervioso Central en vertebrados

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
Biomedicum Helsinki 2U
Institute for Molecular Medicine Finland

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberPID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberPID-NET: Primary immunodeficiencies predisposing to severe bacterial infections
Otto-Heubner-Centrum für Kinder- und Jugendmedizin
Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie

GERMANY

Niedersachsen
HANNOVER

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

SPAIN

Madrid
MADRID

SPAIN

Madrid
MADRID

Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Grupo de respuesta inmune innata

SWEDEN

Stockholms läns landsting
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

Clinical and genetic investigations of hereditary and acquired thrombocytopenia
Universitätsmedizin Greifswald
Abteilung Transfusionsmedizin

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LOMBARDIA
MILANO

RBDD: Rare Bleeding Disorders Database network (coordination)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: BPD - Bleeding and Platelet Diseases
National Blood Service Center
Division of Transfusion Medicine, Department of Haematology

CANADA

Ontario
TORONTO

Multicentric Research projects