MAKAAO : MApping elements of Knowledge about Autoimmune disease, Auto antibodies and Other clinical signs

Study and target ROR2 to treat ALK+ Anaplastic Large Cell Lymphoma (ALK+ ALCL)

Analysis of mitochondrial DNA variant segregation - a tool for implementing Preimplantation Genetic Testing for mitochondrial DNA-related disorders at the blastocyst stage

Fgfr3, a keeper of cranial suture integrity: Study of a fgfr3 loss-of-function zebrafish model

Functional impact of ZCCHC8 mutation on telomerase activity and telomere integrity

Defects in mitochondrial RNA processing induce IFN signalling

Common repeat expansions and their shared mechanisms: Linking genetics of ALS with Ataxia

De novo monoallelic Reelin missense variants act as dominant-negative causing dominant Neuronal Migration Disorders

RMND1 Deficiency Leads to Enhanced Type I Interferon Responses

Investigation of the pathological mechanism associated with an heterozygous USB1 variant identified in a primary immunodeficient patient

Human integrin alpha V deficiency: a novel TGF-β signalopathy associated with immune dysregulation and colitis

Revealing FCD architecture by multiplex imaging

Development of lentivirus-derived particles with reduced immunogenicity and improved specificity towards HSCs for in vivo gene therapy approaches

Cardiac ventricular growth defects in the heterotaxy syndrome

Screen of novel factors patterning left-right heart asymmetry

Systematic analysis of IFN signalling upon loss of expression of mitochondrial genes

Nanoparticles: developing new tools to target the embryonic brain and rescue developmental defects

The role of LRRK2 in intercellular communication

Identification of new therapeutic targets for the treatment of cutaneous squamous cell carcinoma in patients with Recessive Dystrophic Epidermolysis Bullosa

The newly described PRR, ALPK1, is involved in the inflammatory response to cilia-dependent uropathogenic bacteria

Retinal distrophy of the Abyssinian cat: a new model for Leber congenital amaurosis drug-based therapy

Unraveling and targeting autophagy defects in inherited rhabdomyolysis due to TANGO2 mutation

ENRICHING COMPLEXITY AND CELLULAR DIVERSITY IN IPSC-DERIVED MIDBRAIN ORGANOIDS

Reelin sources in cortical development and neurodevelopmental disorders