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).

Solve-RD GPAP webinars

Solve-RD GPAP webinars

Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in December 2019. The first webinar focuses on basic analysis and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars.

Webinar 1: RD-Connect GPAP webinar- basic analysis

Time: Monday, 9 Dec 2019; 2-3 pm CET

Speaker: Steven Laurie (CNAG, Barcelona)

Audience: Solve-RD partners that have no (or very few) previous experience analysing (filtering and prioritising) genomic data through the GPAP. Users will learn how to filter and prioritise variants (SNVs, InDels, and CNVs) using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (OMIM, ORDO, HPO, PanelApp, Reactome), how to interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser, Mendelian.co, ClinVar, and Varsome.

Registration link: https://zoom.us/webinar/register/WN_9zsilWqnTKu6r5W8ZD_lNg

 

Webinar 2: RD-Connect GPAP webinar- advanced platform features

Time: Monday, 16 Dec 2019; 2-3 pm CET

Speaker: Leslie Matalonga (CNAG, Barcelona)

Audience: Solve-RD partners that already have previous experience analysing (filtering and prioritising) genomic data through the GPAP and/or have attended the workshop on basic analysis. Users will learn how to use advanced features integrated in the system such as: i) Matchmaker exchange, ii) search for specific gene/variants across all samples, iii) TAG and share variants / queries, iv) create specific cohorts based on phenotypic data and v) post analysis management (analysis status and solved cases).

Registration Link: https://zoom.us/webinar/register/WN_TZochyQ6TSmIQ8whE7O_LQ

>8,500 datasets submitted!

>8,500 datasets submitted!

Solve-RD will re-analyse 19,000 exomes and genomes from undiagnosed rare disease patients. By now, more than 8,500 datasets (i.e. unsolved exomes/genomes) have been submitted to the RD-Connect Genome-Phenome Analysis Platform (https://platform.rd-connect.eu)!They have been contributed by our four core ERNs: ERN-ITHACA, ERN-RND, EURO-NMD, and ERN-GENTURIS.

Once all datasets have been processed they will be analysed by the different working groups we established.