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

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          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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          Most cited references 21

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          Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

          Elevated blood pressure (BP) and chronic kidney disease (CKD) are complex traits representing major global health problems 1,2 . Multiple genome-wide association studies (GWAS) identified common variants giving independent susceptibility for CKD and hypertension in the promoter of the UMOD gene 3-9 , encoding uromodulin, the major protein secreted in the normal urine. Despite compelling genetic evidence, the underlying biological mechanism is not understood. Here, we demonstrate that UMOD risk variants directly increase UMOD expression in vitro and in vivo. We modeled this effect in transgenic mice and showed that uromodulin overexpression leads to salt-sensitive hypertension and to age-dependent renal lesions that are similarly observed in elderly subjects homozygous for UMOD risk variants. We demonstrate that the link between uromodulin and hypertension is caused by activation of the renal sodium co-transporter NKCC2. This very mechanism is relevant in humans, as pharmacological inhibition of NKCC2 is more effective in lowering BP in hypertensive patients homozygous for UMOD risk variants. Our findings establish a link between the genetic susceptibility to hypertension and CKD, the control of uromodulin expression and its role in a salt-reabsorbing tubular segment of the kidney. These data point to uromodulin as a novel therapeutic target to lower BP and preserve renal function.
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            Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

            Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome.
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              Biobanking for Europe.

              Biobanks are well-organized resources comprising biological samples and associated information that are accessible to scientific investigation. Across Europe, millions of samples with related data are held in different types of collections. While individual collections can be well organized and accessible, the resources are subject to fragmentation, insecurity of funding and incompleteness. To address these issues, a Biobanking and BioMolecular Resources Infrastructure (BBMRI) is to be developed across Europe, thereby implementing a European 'roadmap' for research infrastructures that was developed by a forum of EU member states and that has been received by the European Commission. In this review, we describe the work involved in preparing for the construction of BBMRI in a European and global context.
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                Author and article information

                Contributors
                Hanns.Lochmuller@gmail.com
                Franz.Schaefer@med.uni-heidelberg.de
                Olaf.Riess@med.uni-tuebingen.de
                Journal
                Eur J Hum Genet
                Eur. J. Hum. Genet
                European Journal of Human Genetics
                Springer International Publishing (Cham )
                1018-4813
                1476-5438
                27 February 2018
                27 February 2018
                June 2018
                : 26
                : 6
                : 778-785
                Affiliations
                [1 ]ISNI 0000 0001 0462 7212, GRID grid.1006.7, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, , Newcastle University, ; Newcastle upon Tyne, UK
                [2 ]ISNI 0000 0000 9428 7911, GRID grid.7708.8, Department of Neuropediatrics and Muscle Disorders, Medical Center–University of Freiburg, Faculty of Medicine, ; Freiburg, Germany
                [3 ]ISNI 0000000090126352, GRID grid.7692.a, Department of Genetics, Center for Molecular Medicine, , University Medical Centre Utrecht, ; Utrecht, The Netherlands
                [4 ]ISNI 0000000089452978, GRID grid.10419.3d, Leiden University Medical Center, ; Leiden, The Netherlands
                [5 ]GRID grid.473715.3, Centro Nacional de Análisis Genómico, Center for Genomic Regulation, CNAG-CRG, , Barcelona Institute of Science and Technology, ; Barcelona, Spain
                [6 ]ISNI 0000 0001 2190 1447, GRID grid.10392.39, Department of Medical Genetics and Applied Genomics, , University of Tübingen, ; Tübingen, Germany
                [7 ]CMAST bvba, Strategic Collaborations, Munich, Germany
                [8 ]CMAST bvba, Strategic Collaborations, Temse, Belgium
                [9 ]ISNI 0000 0001 2190 1447, GRID grid.10392.39, Centre for Rare Diseases, , University of Tübingen, ; Tübingen, Germany
                [10 ]ISNI 0000 0001 2190 4373, GRID grid.7700.0, Division of Pediatric Nephrology, , Heidelberg University Center for Pediatrics and Adolescent Medicine, ; Heidelberg, Germany
                Article
                115
                10.1038/s41431-018-0115-5
                5974013
                29487416
                © European Society of Human Genetics 2018

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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                © European Society of Human Genetics 2018

                Genetics

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