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).
From 5-6 March 2020 the Solve-RD Annual Meeting took place in Barcelona, Spain, hosted by our partner CNAG-CRG. Almost 100 participants from Solve-RD partners, associated ERNs and Undiagnosed Disease Networks attended the meeting.
The meeting was a great success and we have made important steps forward! The best news is that we already solved 130 cases by the re-analysis of unsolved exomes and re-analysis is well under way now.
5-6 March 2020, Barcelona, Spain
The next Solve-RD Annual Meeting will take place from 5-6 March 2020 in Barcelona, Spain. It will be hosted by Solve-RD partner CNAG-CRG at the Parc Científic de Barcelona (PCB).
Registration and poster abstract submission have been closed. Please get in touch with Birte if you have any further question.
Further information on the meeting venue, transport in Barcelona, accommodation, and costs can be found in the general information document.
The agenda can be found here.
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. In December 2019 we organised two webinars: one on basic analysis using GPAP and the other on advanced platform features. Both webinars are now online:
Solve RD webinar on basic analysis using the RD-Connect Genome-Phenome Analysis Platform (GPAP)
Solve RD webinar on advanced features of the RD-Connect Genome-Phenome Analysis Platform (GPAP)
