Author: Birte Zurek

Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in October 2021. The first webinar focuses on basic analyses and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars. Both webinars have also been recognised by the Spanish Society of Human Genetics (AEGH).

Webinar 1: RD-Connect GPAP webinar - general analysis

Time: Wednesday, 6 October 2021; 2-3 pm CEST

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://us02web.zoom.us/webinar/register/WN_I7j_J3ZMSOOBBZHI7rhTBg

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

Time: Tuesday, 19 October 2021; 2-3 pm CEST

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://us02web.zoom.us/webinar/register/WN_VkSDSM50RDedwoc7Y4C2sA

Every person living with a rare disease is a reason for Europe to take action on rare diseases that leaves no one behind by 2030.

Solve-RD joined EURORDIS and the rare disease community in the #30millionreasons campaign for a new EU Action Plan on rare diseases, that will leave no one behind by 2030. We have #30millionreasons for Europe to take action to.

And here is ours: We need a European action plan on rare diseases…

… because we need a European strategy that allows all unsolved rare disease patients entering a transnational research and diagnostic pipeline.

More information can be found here.

A special issue dedicated to the “Treatabolome” has been published in the Journal of Neuromuscular Diseases.

The special issue covers systematic reviews of gene- and variant-specific treatments for rare diseases, particularly rare neurological and neuromuscular disorders, thereby highlighting the important premise that a precise genetic diagnosis may result in equally precise therapeutic approaches.

All articles can be found here.

For the first time in Europe hundreds of rare disease experts team up to actively share and jointly analyze existing data from unsolved rare disease patients. The Solve-RD project published a series of papers in the European Journal of Human Genetics describing the new approach and the structures established to warrant best exchange of expertise. Involved in the project are data scientists and genomics experts as well as expert clinicians and geneticists from the European Reference Networks (ERNs). In an accompanying paper the first results of the approach to solve rare diseases through programmatic reanalysis of genome-phenome data are described. In addition, four case reports from the ERNs show the advantage of the approach and provide details why the patients have only now received their diagnosis.

• Zurek et al. “Solve-RD: systematic Pan-European data sharing and collaborative analysis to solve Rare Diseases.”; doi: 10.1038/s41431-021-00859-0
• Matalonga et al. “Diagnosis of rare disease patients through programmatic reanalysis of genome-phenome data.”; doi: 10.1038/s41431-021-00852-7
• de Boer et al. “A pathogenic MT-TL1 variant identified by whole exome sequencing in an individual with unexplained intellectual disability, epilepsy and spastic tetraparesis.”; doi: 10.1038/s41431-021-00900-2
• Töpf et al. “Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).”; doi: 10.1038/s41431-021-00851-8
• te Paske et al. “A Mosaic PIK3CA Variant in a Young Adult with Diffuse Gastric Cancer: Case Report.”; doi: 10.1038/s41431-021-00853-6
• Schüle et al. “Solving unsolved rare neurological diseases—a Solve-RD viewpoint.”; doi: 10.1038/s41431-021-00901-1

A press release has been published by the University Hospital Tübingen in German and in English.
And here is the link to the press release from the Radboud UMC in Dutch.

The editorial accompanying our six paper bundle:
Graessner H, Zurek B, Hoischen A et al. Solving the unsolved rare diseases in Europe. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00924-8; Link to the editorial.

Solve-RD partner CNAG-CRG is lookig for a communications and data helpdesk coordinator to for the RD-Connect Genome-Phenome Analysis Platform to participate in Solve-RD and other related projects.

More info can be found here. Application deadline is 9 May 2021!

The EURORDIS-led Community Engagement Task Force (CETF) has created an infographic setting out the patient journey to diagnosis. The infographic demonstrates the diagnostic odyssey many people experience on a daily basis and presents existing resources from CETF member organisations to support patients on this journey. The infographic is available in 16 languages!

You will find more info here.