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