La Fondation Maladies Rares est très heureuse de vous annoncer les lauréats de l’Appel à Projets ‘GenOmics of Rare Diseases’ 2021.
Après délibération du comité scientifique, ce sont 9 projets qui seront soutenus par la Fondation Maladies Rares cette année dans le cadre de cet Appel à Projets.
- Minchul Kim ; Tracking the origin of tubular aggregate myopathy by single-nucleus transcriptomics
- Djihad Hadjadj ; Identification of constitutional genetic abnormalities predisposing to Familial midgut carcinoid tumors
- Marion Delous ; Transcriptomic study during neuronal differentiation of RNU4ATAC-associated rare diseases: connecting splicing defects to brain developmental abnormalities
- Stéphane Viville ; Deciphering genetic causes of non-obstructive azoospermia via exome sequencing; a way to personalize treatments and to develop new diagnostic tools.
- Audrey Putoux ; Towards the identification of genes involved in recurrent anencephaly
- Marie-Louise Frémond ; Identifying Novel Monogenic Interferon-Mediated Juvenile Rheumatoid Arthritis
- Xavier Puéchal ; Deciphering genetic and molecular bases of Whipple disease
- Sandrine Vuillaumier-Barrot; Research of homozygous variant in 5’ or 3’UTR ALG12 region or cis regulating elements by whole genome for one ALG12-CDG suspected patient
- Celine Huber ; Identification of new pathogenic variants in individuals with Chondrodysplasias with multiple dislocations (CMD) combining WGS and RNASEQ