The Rare Diseases Foundation is very pleased to announce the winners of the 'GenOmics of Rare Diseases' 2021 Call for Projects.
After deliberation by the scientific committee, 9 projects will be supported by the Rare Diseases Foundation this year within the framework of this Call for Projects.
- 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