Solve-RD – solving the unsolved rare diseases is a research project funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257 from 1 January 2018 to 31 March 2024. Six European Reference Networks (ERNs; ERN-RND, -ITHACA, -EuroNMD, -GENTURIS, -RITA and -EpiCare) contributed data and samples to one or more of the four cohorts for data re-analysis and novel omics (see this Fact Sheet for an overview of the four cohorts).
The Solve-RD data will be stored at the European Genome-phenome Archive (EGA) and made available to other rare disease researchers via a controlled access mechanism. This is governed by the Solve-RD Data Access Committee (DAC).
By submitting unsolved datasets to the RD-Connect GPAP or by shipping patient samples for novel omics analysis Solve-RD partners confirmed that they have the appropriate patient consent in place to a) perform additional research and novel omics analysis and b) share omics data and phenotypic information with others. However, use of the data may be restricted. This can be found in the dataset description i.e. the annex of the Data Access Agreement.
The following Solve-RD datasets (EGA study ID EGAS0000100385) will be made available:
| ERN-ITHACA | ERN-RND | ERN-Euro NMD | ERN-Genturis | ERN-RITA | ERN-EpiCare | |
| Re-analysed unsolved WES/WGS* | Data freeze 1+2: EGAD00001009770
Data freeze* 3: pending |
Data freeze 1+2: EGAD00001009769
Data freeze 3: pending |
Data freeze 1+2: EGAD00001009768
Data freeze 3: pending |
Data freeze 1+2: EGAD00001009767
Data freeze 3: pending |
Data freeze 1-3: pending | Data freeze 1-3: pending |
| Short-read WGS | pending | pending | pending | pending | pending | pending |
| Long-read WGS | pending | pending | pending | - | pending | pending |
| Short-read RNAseq | pending | pending | pending | pending | pending | pending |
| Long-read RNAseq | pending | pending | - | - | - | - |
| Epigenomes | pending | pending | pending | pending | - | pending |
| Metabolomes | pending | - | - | - | - | - |
| Deep-WES | pending | - | pending | pending | pending | pending |
| Optical Genome Mapping | pending | pending | pending | pending | pending | pending |
* The unsolved cases for re-analysis have been collected in data freezes. The results of the re-analysis of data freezes 1 and 2 from ERN-ITHACA, -RND, -Euro-NMD, and -GENTURIS will soon be published.
For analysis purposes, access to the RD-Connect GPAP might be an alternative option as all Solve-RD novel srWGS as well as WGS/WES data from unsolved cases are available there.
Data Access Committee (DAC)
The Solve-RD Data Access Committee (DAC) consists of one representative per ERN that contributed data and/or samples to Solve-RD cohorts 1-4 (see this Fact Sheet for an overview of the four cohorts).
The DAC is supported by the Solve-RD management office based at the Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Germany.
Results
Representatives
Holm Graessner
University of Tübingen, Tübingen, Germany
ERN-RND
Nicoline Hoogerbrugge
Radboud UMC, Nijmegen, the Netherlands
ERN-GENTURIS
Lisenka Vissers
Radboud UMC, Nijmegen, the Netherlands
ERN-ITHACA
Teresinha Evangelista
INSERM Institute of Myology, Paris, France
ERN-Euro-NMD
Gaëtan Lesca
Lyon University Hospital, Lyon, France
ERN-EpiCare
Marielle van Gijn
University Medical Centre Groningen, Groningen, the Netherlands
ERN-RITA
How to get access to data?
Researchers who would like to access a specific Solve-RD dataset need to request access from the Solve-RD Data Access Committee (DAC). They have to fill and sign the Solve-RD Data Access Agreement (DAA) and send it to the DAC office. In addition, researchers have to request access to a specific dataset via their EGA account (see this EGA documentation page for details).
The review process of data access requests will max. be 8 weeks.
The Data Access Agreement (DAA) lays out the terms under which access to Solve-RD data (incl. sequence and genotype data, other omics data, phenotypic data and pedigree information) is being granted.
The DAA includes a research proposal from the applicant i.e. the researcher requesting access to Solve-RD data, information on the researcher and any personnel who will have access to the data and a list of relevant publications. It needs to be signed by the applicant and the authorised representative of the applicant’s institution.
The annex of the DAA describes the available datasets, any restrictions of use and the correct way to acknowledge use of the dataset.
The most recent version of the Data Access Agreement will be provided for download here - once available.
Approved data access requests
All data access requests which have been approved by the Solve-RD DAC will be listed below. The information includes name and affiliation of the applicant, title of the research project and a short project description in lay terms.
[Projekt title]
| Researcher | [Name (Institution)] |
| Project description | Lorem ipsum dolor sit amet, consectetuer adipiscing elit. Vivamus tincidunt. Nullam pulvinar auctor arcu. Sed tincidunt scelerisque est. Nunc feugiat. Phasellus vel massa. Proin id nisl sed lacus feugiat bibendum. |
| Dataset(s) | [EGAD########] |
| Date | [dd.mm.yyyy] |
[Projekt title]
| Researcher | [Name (Institution)] |
| Project description | Lorem ipsum dolor sit amet, consectetuer adipiscing elit. Vivamus tincidunt. Nullam pulvinar auctor arcu. Sed tincidunt scelerisque est. Nunc feugiat. Phasellus vel massa. Proin id nisl sed lacus feugiat bibendum. |
| Dataset(s) | [EGAD########] |
| Date | [dd.mm.yyyy] |