3rd Solve-RD Seeding Grant awarded!

3rd Seeding Grant awarded!

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).

Second Seeding Grant awarded!

Second Seeding Grant awarded!

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).

Solve-RD Annual Meeting 2020

Solve-RD Annual Meeting 2020

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.

First Seeding Grant awarded!

First Seeding Grant awarded!

The group of Lisenka Vissers and her colleagues at Radboud University Medical Centre identified novel variants of a gene associated with complex cortical dysplasia and other brain malformations. Affected patients are clinically characterized by neurodevelopmental delay, intellectual disability and refractory epilepsy.
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.
For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).

Solve-RD Brokerage Service Call open!

Solve-RD Brokerage Service Call open!

We announce the 3rd call of the Solve-RD brokerage service: All Solve-RD beneficiaries and associated partners can submit a Connection Application by Wednesday, 8 April 2020.
More information can be found here.
In terms of timelines: Connection Applications will be selected in the w/c 27 April. The decision on the Model Organism Investigators (the Seeding Grant applications) will be made in the w/c 29 June.

Solve-RD Annual Meeting 2020

Solve-RD Annual Meeting 2020

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 GPAP webinars on YouTube

Solve-RD GPAP webinars on YouTube

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)

Solve-RD brokerage service call open

Solve-RD brokerage service call open!

We announce the second call of the Solve-RD brokerage service: All Solve-RD beneficiaries and associated partners can submit a Connection Application by Monday, 13 January 2020.
More information can be found here.
In terms of timelines: Connection Applications will be selected in the w/c 27 January. The decision on the Model Organism Investigators (the Seeding Grant applications) will be made in the w/c 24 February.

Job opportunity: project manager

Job opportunity: project manager

The Solve-RD project management office is looking for a project manager to support the team in Tübingen. She / he will be involved in the project logistics management, the RDMM-Europe network and the Solve-RD brokerage service as well as the overall project management.
Application deadline: 4 December 2019.
For more info see here (in German).