It is with great pleasure that we announce the winning teams of the Genomics 2024 call for projects.
Congratulations to the winners and their projects of excellence:
Dr Julien BARC, Institut du Thorax, Nantes
➡️ Project: Whole genome sequencing for atrioventricular block (AVB) in young people. A breakthrough for identifying genetic causes and developing personalized treatments.
Dr Michèle Bertacchi, Institut de Biologie de Valrose (iBV), Nice
➡️ Project: Modeling BBSOAS optic atrophy syndrome in human retinal organoids. Towards new therapeutic strategies for severe visual disorders.
Dr Chaboissier, Institut de Biologie de Valrose (iBV), Nice
➡️ Project: Study of sex development disorders (SDD) via the RSPO1 gene for more accurate genetic diagnosis and counseling.
Dr Maudde Dieuleveult, Institut Imagine, Paris
➡️ Project: Episignature signature of Snijders Blok-Campeau syndrome for easier diagnosis and greater understanding of pathophysiological mechanisms.
Dr HervéKempf, IMoPA, Vandœuvre-lès-Nancy
➡️ Project: Investigation of the mechanisms of tracheal calcification in Keutel syndrome, with implications for respiratory management.
Dr Wojciech Krezel, IGBMC, Illkirch-Graffenstaden
➡️ Project: Exploring the neurodevelopmental mechanisms of MCOPS12 for new neurological therapeutic leads.
Dr Eric Letouzé, CRCI2NA, Nantes
➡️ Project: Genetic study of Schnitzler syndrome for improved diagnosis of auto-inflammatory diseases.
Dr Valerie Malan, Institut Imagine, Paris
➡️ Project: Identification of the genetic bases of specific oral language disorders, with tools for diagnosis and genetic counseling.
Dr Caroline Nava, Hôpital Universitaire Pitié Salpêtrière, Paris
➡️ Project: Long-read sequencing for children with corpus callosum agenesis, to facilitate prenatal and neonatal diagnosis.
Dr Lucie P. Pellissier, Physiologie de la Reproduction et des Comportements, Tours
➡️ Project: Analysis of social interaction disorders in Phelan-McDermid and Fragile X syndromes, for targeted therapies.
Dr Amelie Piton, IGBMC, Illkirch-Graffenstaden
➡️ Project: Characterization of altered molecular mechanisms in DYRK1A syndrome, a common genetic form of neurodevelopmental disorder, using brain organoids
Dr Isabel Punzon, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort
➡️ Project: CRISPR/Cas13-mediated genetic signature of disease and therapy in the canine model of DNM2-related centronuclear myopathy.
These projects embody an essential breakthrough for patients and their families! 🚀
