Author: Birte Zurek

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.

Solve-RD partner CNAG-CRG is lookig for a PhD student to work on strategies for molecular diagnosis of rare disease patients through integrated analysis of proteomics, metabolomics, genomics and phenomics data. The early-stage researcher (ESR) will be part of the European Innovative Training Network PROTrEIN.

More info can be found here. Application deadline is 31 January 2021!

Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. GPAP now includes a new module: the RD-Connect GPAP-PhenoStore.

You can access GPAP-PhenoStore via the "Access Phenotypic Data Submission" button on the GPAP Homepage. There you will also find a link to the new GPAP-PhenoStore User Guidelines and a summary video of the new module.

RD-Connect PhenoTips has now been retired. You will access GPAP-PhenoStore with the same credentials you use for the GPAP analysis platform.

The online seminar the GPAP team hold on 26 November is available here.