Projets financés
Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia- integrating clinical and basic science – Improve CPVT
Tracing the untackled facets of Peeling Skin Disease-Targeting epidermal proteolysis for treatment – Propekal5
European network on Noonan syndrome and related disorders – NS-EuroNet
Novel Gene Therapy for Thalassemia- Pre-clinical Development and Assessment in Animal and Stem Cell – GETHERTHAL PLUS
Non-SCID combined immunodeficiencies- a diagnostic and therapeutic challenge – EuroCID
A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammation – INSAID
Mitochondrial Disorders- from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options – GENOMIT
Preparing for therapies in autosomal recessive ataxias – PREPARE
Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies -Charcot-Marie-Tooth disease- – CMT-NRG
Improving care for Cohesinopathies from heart phenotypes to novel therapies – CoHEART
Small Antibody Fragment as Alternative Tools in Haemophilia Care – SMART-HaemoCare
Le traitement de l‘hémophilie A repose essentiellement sur la thérapie de substitution qui consiste à injecter I.V. des concentrés protéiques contenant du facteur VIII (FVIII) d’origine plasmatique ou recombinante. Cette thérapie a eu des effets bénéfiques majeurs dans la prise en charge des patient
The European Diamond-Blackfan Anemia Consortium – EuroDBA
Harmonising phenomics information for a better interoperability in the RD field – Hipbi-RD
Netherton Syndrome- From mechanisms to therapies – KLKIN
A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders. – EURO-CDG-2
