The group of Antonio Vitobello (University Hospital Dijon-Bourgogne) was awarded a grant to study identified novel gene variants in two unrelated patients with polymalformative syndrome. Both patients presented with developmental delay and multiple malformations and exome sequencing, and carry the same rare missense variant in a gene that has not been associated with human disease thus far.
To answer its causative implication in the disease, the Solve-RD RDMM-Europe Seeding grant will allow the generation of a Drosophila melanogaster model by Howard Lipshitz and his group (Department of Molecular Genetics, University of Toronto). The applicant has extensive experience and a proven track record in the functional validation of human genes in Drosophila.
The second grant was awarded to Siddharth Banka’s group (Manchester Centre for Genomic Medicine), which identified novel missense gene variants in several unrelated patients with neurodevelopmental disorders. The patients presented moderate to severe intellectual disability, developmental delay, behavioural problems and, in addition, occasional congenital malformations.
Exome sequencing revealed that all patients carry rare missense variants in a novel candidate gene. The Solve-RD RDMM-Europe Seeding grant will allow the generation of a Zebrafish model by Gaurav K. Varshney and his group at the Oklahoma Medical Research Foundation. The applicant has extensive experience with clinical collaborations, and his primary focus is the use of zebrafish and gene editing technologies to study human disease models.
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