Projets financés
Non-SCID combined immunodeficiencies- a diagnostic and therapeutic challenge
A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammation
Mitochondrial Disorders- from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options
Preparing for therapies in autosomal recessive ataxias
Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies -Charcot-Marie-Tooth disease-
Improving care for Cohesinopathies from heart phenotypes to novel therapies
Small Antibody Fragment as Alternative Tools in Haemophilia Care
The European Diamond-Blackfan Anemia Consortium
Harmonising phenomics information for a better interoperability in the RD field
Netherton Syndrome- From mechanisms to therapies
A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.
Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia- integrating clinical and basic science
Tracing the untackled facets of Peeling Skin Disease-Targeting epidermal proteolysis for treatment
European network on Noonan syndrome and related disorders
Novel Gene Therapy for Thalassemia- Pre-clinical Development and Assessment in Animal and Stem Cell
