Author: Birte Zurek

The group of Ana Töpf and Volker Straub at the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University identified new vary rare variants of a gene in patients with severe respiratory failure, dyspnoea and spine rigidity. The RDMM-Europe Seeding Grant of 20,000 EUR awarded to Conrad Weihl and his group at the Washington University School of Medicine will enable the functional validation of the disease causing gene in a knockout mouse model. The group has vast experience in working with mouse models of neuromuscular disorders. In addition, biochemical studies will be carried out in knockout myoblasts to unravel putative mechanism of pathogenicity.

For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).

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.

For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).