ANR EJP-RD UPS-NDDiag : Sébastien Küry (2023 - 2026)
Sébastien Küry is the scientific leader of an European Joint Program on Rare Diseases (EJP RD) project entitled "Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitin-proteasome system dysfunction".
This project will be carried out in collaboration with 5 partners: Frédéric Laumonnier (INSERM UMR1253, Tours), Peter Krawizt (Germany), François Bolduc (Canada), Ype Elgersma (The netherlands) and Andreas Grabrucker (Irland).
Summary
Neurodevelopmental disorders (NDDs) are a major public health problem worldwide, affecting approximately 3-10% of children. These past years, an increasing number of variants in genes encoding proteins of the ubiquitin-proteasome system (UPS) has been identified in patients with NDD. The UPS is a major protein degradation pathway, which is essential to neuronal development and function. Yet, there are still no reliable biological markers or cell/animal models that can be used for diagnostic purposes in patients with such disorders. We have conceived the UPS-NDDiag project to address this question.
Our main objective is to develop tools and a method likely to help diagnose this group of rare diseases and to monitor their clinical course. Thanks to an international collaborative effort, we have gathered photos, clinical information and biological samples of 67 patients with UPS-NDD that will be stored in a patient registry hosted by GestaltMatcher. Using these biological samples, induced pluripotent stem cells (iPSC)-derived neuronal cell models and animal models, we will search for biological markers, molecular or epigenetic signatures, or morphological and phenotypic features specific to UPS-NDDs.
In parallel, we will keep including additional patients whose samples will be used to assess the diagnostic value of highlighted biomarkers, signatures or cell features.
This project will be carried out in collaboration with 5 partners: Frédéric Laumonnier (INSERM UMR1253, Tours), Peter Krawizt (Germany), François Bolduc (Canada), Ype Elgersma (The netherlands) and Andreas Grabrucker (Irland).
Summary
Neurodevelopmental disorders (NDDs) are a major public health problem worldwide, affecting approximately 3-10% of children. These past years, an increasing number of variants in genes encoding proteins of the ubiquitin-proteasome system (UPS) has been identified in patients with NDD. The UPS is a major protein degradation pathway, which is essential to neuronal development and function. Yet, there are still no reliable biological markers or cell/animal models that can be used for diagnostic purposes in patients with such disorders. We have conceived the UPS-NDDiag project to address this question.
Our main objective is to develop tools and a method likely to help diagnose this group of rare diseases and to monitor their clinical course. Thanks to an international collaborative effort, we have gathered photos, clinical information and biological samples of 67 patients with UPS-NDD that will be stored in a patient registry hosted by GestaltMatcher. Using these biological samples, induced pluripotent stem cells (iPSC)-derived neuronal cell models and animal models, we will search for biological markers, molecular or epigenetic signatures, or morphological and phenotypic features specific to UPS-NDDs.
In parallel, we will keep including additional patients whose samples will be used to assess the diagnostic value of highlighted biomarkers, signatures or cell features.
Mis à jour le 12 November 2024.