Treatabolome special issue published in the Journal of Neuromuscular Diseases

Treatabolome special issue published in the Journal of Neuromuscular Diseases

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.

Solve-RD published a series of papers in the EJHG

Solve-RD published a series of papers in the EJHG

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.

Four Seeding Grants awarded!

Four Seeding Grants awarded!

Four Seeding Grants have now been awarded to model organism investigators who will functionally validate new genes identified by Solve-RD beneficiaries and associated partners:
  • Julie Brill & Manuela Morleo (ERN-ITHACA)
  • Alessandro Sessa & Siddarth Banka (ERN-ITHACA)
  • R. Grace Zhai & Rebecca Schüle (ERN-RND)
  • Thomas Boulin & Alessandra Renieri (ERN-ITHACA)
More information on the different projects can be found on the funded projects page.

Diagnostic odyssey

Diagnostic odyssey

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.

Open position

Open position: PhD student

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!

PhenoStore video

PhenoStore video

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.

Outreach Partner of the next EURORDIS Black Pearl Awards

Outreach Partner of the next EURORDIS Black Pearl Awards

Solve-RD has been invited as an Outreach Partner of the next EURORDIS Black Pearl Awards! We are very happy about that and gladly accepted the invite.

Photo submissions for the Photo Award 2021 are now open, until 31st January 2021. You can submit your photo and find more information here: www.blackpearl.eurordis.org/photo-award.

Job opportunity: Bioinformatician

Job opportunity: Bioinformatician

The mitochondrial genomics group in Cambridge, UK (Professor Patrick Chinnery and Dr. Rita Horvath, @HorvathLab) is seeking a talented Bioinformatician in computational biology/computer science/bioinformatics to join a team of clinical and laboratory scientists who are studying the role of genetic variation and differences in gene expression in rare inherited neurological diseases, including mitochondrial disorders. The bioinformatician will also work on Solve-RD.

Application deadline: 1 November 2020. For details see here.