RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

European Journal of Human Genetics : EJHG
Hanns LochmüllerEURenOmics consortium

Abstract

Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship projects, RD-Connect, NeurOmics, and EURenOmics, to help move the field forward with the ambition of advancing -omics research and data sharing at their core in line with the goals of IRDiRC (International Rare Disease Research Consortium). NeurOmics and EURenOmics generate -omics data and improve diagnosis and therapy in rare renal and neurological diseases, with RD-Connect developing an infrastructure to facilitate the sharing, systematic integration and analysis of these data. Here, we summarize the achievements of these three projects, their impact on the RD community and their vision for the future. We also report from the Joint Outreach Day organized by the three projects on the 3rd of May 2017 in Berlin. The workshop stimulated an open, multi-stakeholder discussion on the challenges of the rare diseases, and highlighted the cross-project cooperation and the common goal: the use of innovative genomic technologies in rare disease research.

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Citations

Nov 27, 2018·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
Jun 13, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caroline PearceChristopher McKevitt
Feb 20, 2020·EMBO Molecular Medicine·Fruzsina Molnár-Gábor, Jan O Korbel
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Dec 4, 2019·Biopreservation and Biobanking·Lisa DevereuxAlison Parry-Jones
Feb 11, 2020·Journal of Neuromuscular Diseases·Marco SavareseBjarne Udd
Oct 9, 2019·Disease Models & Mechanisms·Annemieke Aartsma-Rus, Maaike van Putten
Aug 28, 2020·Nature Reviews. Nephrology·Laura BarisoniUlysses G J Balis
Mar 17, 2020·Journal of Neuromuscular Diseases·Marco SavareseBjarne Udd
Apr 2, 2019·Emerging Topics in Life Sciences·Rachel ThompsonHanns Lochmüller
Apr 17, 2021·Expert Review of Proteomics·Daniela BraconiAnnalisa Santucci
Jun 12, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Quentin ThomasAntonio Vitobello

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Methods Mentioned

BETA
exome sequencing
biopsy

Software Mentioned

Predictor
UMD
RoH
Exomiser
EURenOmics
Connect Genome - Phenome Analysis Platform
IRDiRC
ALamut® Annotations (
ClinVar
Connect

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