Huge collaboration and “big” data

Combining to solve rare diseases
by Thierry Gregorius*

Over 300 doctors, scientists, researchers and patient representatives from 51 organisations in 15 European countries are teaming up to discover new disease genes and enable diagnosis for people with rare diseases, including HSP.

More than 270,000 people with rare diseases are included under this umbrella that is combining existing genetic test results with massive computing power to analyse this huge dataset. The preliminary run diagnosed 255 previously undiagnosed cases from over 8,000 datasets.


For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies.

The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued:

  • massive data re-analysis of >19,000 unsolved rare disease patients and
  • novel combined -omics approaches.

The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases from 8393 exomes/genome datasets.

This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

SOURCE:  Eur J Hum Genet. 2021 Jun 1. doi: 10.1038/s41431-021-00859-0. Online ahead of print. PMID: 34075208 © 2021. The Author(s).  

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek  1 Kornelia Ellwanger  1 Lisenka E L M Vissers  2   3 Rebecca Schüle  4   5 Matthis Synofzik  4   5 Ana Töpf  6 Richarda M de Voer  2   7 Steven Laurie  8 Leslie Matalonga  8 Christian Gilissen  2   7 Stephan Ossowski  1 Peter A C ‘t Hoen  7   9 Antonio Vitobello  10 Julia M Schulze-Hentrich  1 Olaf Riess  1   11 Han G Brunner  2   3   12 Anthony J Brookes  13 Ana Rath  14 Gisèle Bonne  15 Gulcin Gumus  16 Alain Verloes  17 Nicoline Hoogerbrugge  2   7 Teresinha Evangelista  15 Tina Harmuth  1 Morris Swertz  18 Dylan Spalding  19 Alexander Hoischen  2   7   20 Sergi Beltran  8   21   22 Holm Graessner  23   24 Solve-RD consortium

1. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

3. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

4. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

5. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

6. John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

7. Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

8. CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.

9. Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.

10. Inserm-University of Burgundy-Franche Comté, Dijon, France.

11. Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.

12. Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

13. Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.

14. INSERM, US14-Orphanet, Plateforme Maladies Rares, Paris, France.

15. Sorbonne Université, INSERM UMRS 974, Center of Research in Myology, Paris, France.

16. EURORDIS-Rare Diseases Europe, Barcelona, Spain.

17. Genetics Department, APHP-Robert Debré University Hospital, Université de Paris, Paris, France.

18. Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

19. European Bioinformatics Institute, European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, Cambridge, UK.

20. Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

21. Universitat Pompeu Fabra (UPF), Barcelona, Spain.

22. Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.

23. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

24. Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.

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