The Solve-RD brokerage service aims to fund 50 projects (so called Seeding Grants) to functionally validate newly discovered disease genes. Below you'll find a list of all funded projects.
Howard Lipshitz | Antonio Vitobello (ERN-ITHACA)
The group of Antonio Vitobello from CHU Dijon identified a novel gene variant in two unrelated patients with polymalformative syndrome. The patients both present with developmental delay and multiple malformations and exome sequencing revealed that both patients carry the same rare missense variant in a gene that has not been associated with human disease so far.
To answer it´s 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 at the Department of Molecular Genetics, University of Toronto, Canada. The applicant has extensive experience and a proven track record in the functional validation of human genes in Drosophila. This is the first Solve-RD Seeding Grant awarded to a scientist identified via our partner network RDMMN in Canada.
Michela Ori | Antonio Vitobello (ERN-ITHACA)
The group of Antonio Vitobello from CHU Dijon identified novel gene variants in patients with facial dysmorphism. Loss-of-function mutations of the respective candidate gene have previously been described as causative in a rare genetic disorder characterized by developmental delay and intellectual disability.
The Seeding Grant will allow the generation of Zebrafish and Xenopus mutants by Michela Ori and her group at the Department of Biology, University of Pisa, Italy to model the dysmorphic phenotype. Michela has extensive experience in molecular embrology and has previously used Xenopus and Zebrafish animal models to study craniofacial development.
Ype Elgersma | Laurence Faivre (ERN-ITHACA)
Conrad Weihl | Ana Töpf (ERN-EURO NMD)
Sara Wells | Stephanie Efthymiou (ERN-RND)
The group of Stephanie Efthymiou and her colleagues at the UCL Institute of Neurology identified novel variants of a gene associated with severe neurodevelopmental disorders. Homozygous carriers of the alleles come up with severely delayed psychomotor development. Neurophysiological investigations indicated severe demyelination, axonal neuropathy and loss of cerebral white matter.
The RDMM-Europe seeding grant will facilitate the generation of a mouse model by Sara Wells at the Mary Lyon Centre, MRC Harwell Institute by using CRISPR/Cas9 technology to alter this novel gene. The model will play an important role in understanding the pathological consequences of the novel gene variants. In particular, the mutants will be studied for phenotypic features observed in the patient, such as neurological development, locomotor activity and behaviour. Modelling this human disease will not only help to provide further evidence on this new rare genetic disease and hence to improve diagnostic and management strategies, but will also facilitate assessment of potential treatment possibilities for patients.
Binnaz Yalcin | Lisenka Vissers (ERN-ITHACA)
The RDMM Europe Seeding Grant will facilitate the characterisation of a knock-in mouse model by Binnaz Yalcin and her group at University of Burgundy, Dijon, France as part of Inserm U1231. For the validation of the novel gene variants the mouse model will be characterized by histological and neuroanatomical methods as well as in behavioural tests. By modelling this novel rare human disease we expect to improve diagnosis and future treatment possibilities for affected patients.