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Towards a PREcise DIagnosis in Ciliopathies – PREDICT
Ciliopathies are rare Mendelian disorders caused by dysfunction of primary cilia, sensory organelles protruding from the cell surface playing a crucial role in signal transduction during development and cell function. Clinically, ciliopathies can involve most organ systems, displaying substantial ph
Towards the most accurate diagnosis and monitoring of Complement-mediated rare kidney diseases – COMPRare
Complement-mediated kidney diseases are ultra-rare conditions associated with genetic variants or circulating auto-antibodies, allowing uncontrolled complement activation, and resulting in complement deposition in the kidneys. This leads to renal inflammation and ultimately end-stage renal failure t
European Network for improved molecular diagnostics of the Neurofibromatoses-schwannomatoses and related disorders – EURONET- NF
Neurofibromatosis type 1 (NF1), NF2 and non-NF2 schwannomatosis (SWN) belong to the NF disease spectrum. Legius syndrome (LGSS) and Constitutional Mismatch Repair Deficiency (CMMRD) are both differential diagnoses of NF1. These five syndromes are rare, genetically and clinically distinct diseases w
A multi-omics approach for diagnostics and monitoring of mitochondrial disorders – GENOMIT
Mitochondrial disorders (MD) are a genetically diverse group of individually rare, but severe human diseases for which no causal treatments are available. The GENOMIT consortium assembles the national networks from Germany, Austria, Italy, UK, Spain and Japan and the centre for MDs in France, collec
Optical imaging as a diagnostic tool for monitoring brain function in X-linked rare disorders: from preclinical models to patients – IMAGINER
Fragile X syndrome (FXS) and Creatine Transporter Deficiency (CTD) are the two most common causes of X-linked intellectual disability. Despite their etiological heterogeneity, FXS and CTD share common clinical traits, such as cognitive and language dysfunction, autistic-like features, motor abnormal
Optimization of the diagnostic approach for inborn errors of immunity leading to hyper-inflammation – ODINO
Inborn errors of immunity (IEI) are a large group of genetic conditions that result in an alteration of the normal function of the immune response. Beside the classical primary immunodeficiencies (PID), characterized by an increased susceptibility to infection, other conditions are associated with a
PREdictive biomarkers in DYsTonia: defining the paradigm of monogenic dystonia to implement the diagnosis and prognosis of undiagnosed forms – PreDYT
The three main objectives (Os) of this project are, O1) to increase the diagnostic yield in dystonias, by detecting previously unrecognized etiological gene variants or by identifying less penetrant disease-predisposing alleles; O2) to study prioritized gene variants in 3-D human-derived cellular mo
Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitin-proteasome system dysfunction – UPS-NDDiag
Neurodevelopmental disorders (NDDs) represent a heterogeneous group of conditions that persist throughout life, and affect more than 3% of individuals worldwide. NDD has a major impact on the affected individuals, families and society as a whole. Due to high-throughput sequencing, up to 50% of NDD c