GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
Background: Clinical research on monogenic kidney disease (MKD) is thriving and the need for large cohorts, prospective data collection and biobanking is increasing. We aim to create a sustainable large MKD biobank with a vast amount of uniformly collected high-quality data that is readily available...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000139 |
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| author | Laura R. Claus Iris Lekkerkerker Bert van der Zwaag Tri Q. Nguyen Nine V.A.M. Knoers Martin H. de Borst Maarten B. Rookmaker Marc R. Lilien Albertien M. van Eerde |
| author_facet | Laura R. Claus Iris Lekkerkerker Bert van der Zwaag Tri Q. Nguyen Nine V.A.M. Knoers Martin H. de Borst Maarten B. Rookmaker Marc R. Lilien Albertien M. van Eerde |
| author_sort | Laura R. Claus |
| collection | DOAJ |
| description | Background: Clinical research on monogenic kidney disease (MKD) is thriving and the need for large cohorts, prospective data collection and biobanking is increasing. We aim to create a sustainable large MKD biobank with a vast amount of uniformly collected high-quality data that is readily available for future research, with an infrastructure that allows for recontacting participants. Methods: The GeNepher data- and biobank is an ongoing data- and sample collection that includes patients and family members with known and/or suspected MKD. With a tiered approach participants can give broad consent for including their 1) available medical data (including genetic testing results), 2) inclusion of massively parallel sequencing data for add-on analysis, and 3) additional biobank sampling (e.g. urine for tubuloids, skin biopsy for fibroblasts). Recontacting is possible for additional data collection, novel research opportunities and return of relevant findings. Discussion: The GeNepher data- and biobank collects prospective and retrospective data from kidney disease patients and their relatives. The broad consent allows for research that extends beyond one specific research question. Herewith, this biobank aims to 1) increase the scientific knowledge based on disease mechanisms including (novel) monogenic causes, 2) study modifiers, 3) improve care, including reproduction related research questions. Furthermore, it facilitates recontacting for opportunities in treatment development or when diagnose specific trials are started or specific treatment is approved. Conclusion: The GeNepher biobank is designed to support a wide range of research projects by providing access to a diverse population of patients with (suspected) MKD and has the potential to make a significant contribution to the field of rare kidney disease research. |
| format | Article |
| id | doaj-art-9b7fa0bb5f9b4ad99c11708fe4eb1b1f |
| institution | Kabale University |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-9b7fa0bb5f9b4ad99c11708fe4eb1b1f2024-12-18T08:55:34ZengElsevierRare2950-00872024-01-012100030GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status updateLaura R. Claus0Iris Lekkerkerker1Bert van der Zwaag2Tri Q. Nguyen3Nine V.A.M. Knoers4Martin H. de Borst5Maarten B. Rookmaker6Marc R. Lilien7Albertien M. van Eerde8Department of Genetics, University Medical Center Utrecht, Utrecht, the NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, the NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, the NetherlandsDepartment of Pathology, University Medical Center Utrecht, Utrecht, the NetherlandsDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the NetherlandsDepartment of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the NetherlandsDepartment of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, the NetherlandsDepartment of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, the NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands; Corresponding author at: PO Box 85090; internal mail no. KC.04.084.2, Utrecht 3508 AB, the Netherlands.Background: Clinical research on monogenic kidney disease (MKD) is thriving and the need for large cohorts, prospective data collection and biobanking is increasing. We aim to create a sustainable large MKD biobank with a vast amount of uniformly collected high-quality data that is readily available for future research, with an infrastructure that allows for recontacting participants. Methods: The GeNepher data- and biobank is an ongoing data- and sample collection that includes patients and family members with known and/or suspected MKD. With a tiered approach participants can give broad consent for including their 1) available medical data (including genetic testing results), 2) inclusion of massively parallel sequencing data for add-on analysis, and 3) additional biobank sampling (e.g. urine for tubuloids, skin biopsy for fibroblasts). Recontacting is possible for additional data collection, novel research opportunities and return of relevant findings. Discussion: The GeNepher data- and biobank collects prospective and retrospective data from kidney disease patients and their relatives. The broad consent allows for research that extends beyond one specific research question. Herewith, this biobank aims to 1) increase the scientific knowledge based on disease mechanisms including (novel) monogenic causes, 2) study modifiers, 3) improve care, including reproduction related research questions. Furthermore, it facilitates recontacting for opportunities in treatment development or when diagnose specific trials are started or specific treatment is approved. Conclusion: The GeNepher biobank is designed to support a wide range of research projects by providing access to a diverse population of patients with (suspected) MKD and has the potential to make a significant contribution to the field of rare kidney disease research.http://www.sciencedirect.com/science/article/pii/S2950008724000139Monogenic kidney diseaseBiobankGeneticsTranslational nephrogenetics |
| spellingShingle | Laura R. Claus Iris Lekkerkerker Bert van der Zwaag Tri Q. Nguyen Nine V.A.M. Knoers Martin H. de Borst Maarten B. Rookmaker Marc R. Lilien Albertien M. van Eerde GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update Rare Monogenic kidney disease Biobank Genetics Translational nephrogenetics |
| title | GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update |
| title_full | GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update |
| title_fullStr | GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update |
| title_full_unstemmed | GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update |
| title_short | GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update |
| title_sort | genepher data and biobank for patients with suspected genetic kidney disease rationale design and status update |
| topic | Monogenic kidney disease Biobank Genetics Translational nephrogenetics |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000139 |
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