Solving the unsolved rare diseases in Europe

Holm Graessner^{1

2}, Birte Zurek³, Alexander Hoischen^{4

5

6}, Sergi Beltran^{7

8

9}

Affiliations

¹ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
² Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
³ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁴ Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
⁶ Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
⁷ CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
⁸ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
⁹ Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.

Editorial

Holm Graessner et al. Eur J Hum Genet. 2021 Sep.

. 2021 Sep;29(9):1319-1320.

doi: 10.1038/s41431-021-00924-8.

Holm Graessner^{1

2}, Birte Zurek³, Alexander Hoischen^{4

5

6}, Sergi Beltran^{7

8

9}

¹ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
² Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
³ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁴ Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
⁶ Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
⁷ CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
⁸ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
⁹ Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.

No abstract available

References

1. Zurek B, Ellwanger K, Vissers L, Schüle R, Synofzik M, Töpf A, et al. Solve-RD: systematic Pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00859-0. - DOI - PMC - PubMed
1. Matalonga L, Hernandez-Ferrer C, Piscia D, Solve-RD SNV-indel working group. Schüle R, Synofzik M, et al. Diagnosis of rare disease patients through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00852-7. - DOI - PMC - PubMed
1. de Boer E, Ockeloen CW, Matalonga L, Horvath R, Solve-RD SNV-indel working group. Rodenburg RJ, et al. A pathogenic MT-TL1 variant identified by whole exome sequencing in an individual with unexplained intellectual disability, epilepsy and spastic tetraparesis. Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00900-2. - DOI - PMC - PubMed
1. Töpf A, Pyle A, Griffin H, Matalonga L, Schon K, Solve-RD SNV-indel working group et al. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00851-8. - DOI - PMC - PubMed
1. Te Paske I, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A, et al. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. Eur J Hum Genet. 2021 doi: 10.1038/s41431-021-00853-6. - DOI - PMC - PubMed