Managing sensitive phenotypic data and biomaterial in large-scale collaborative psychiatric genetic research projects: practical considerations

Demiroglu, Sara Y.; Skrowny, Daniela; Quade, Matthias; Schwanke, J.; Budde, Monika; Gullatz, V.; Reich‐Erkelenz, Daniela; Jakob, Jens; Falkai, Peter; Rienhoff, Otto; Helbing, Krister; Heilbronner, Urs; Schulze, Thomas G.

doi:10.1038/mp.2012.11

Cited by 19 publications

(30 citation statements)

References 16 publications

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“…These centers are clinical collaborators of an ongoing study on genotype-phenotype relationships and the neurobiology of the longitudinal course of major psychiatric disorders (www.kfo241.de and www.PsyCourse.de). This study combines comprehensive longitudinal deep phenotyping, longitudinal sampling of various types of biomaterial, and state-of-the art proband management and biobanking, as well as advanced data protection, governed by stringent standard operating procedures for a multicenter study framework like ours (52)(53)(54)(55). Blood was collected in Pax gene tubes and incubated for 2 h at room temperature.…”

Section: Materials/subjects and Methodsmentioning

confidence: 99%

HDAC1 links early life stress to schizophrenia-like phenotypes

Bahari‐Javan

Varbanov

Halder

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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Schizophrenia is a devastating disease that arises on the background of genetic predisposition and environmental risk factors, such as early life stress (ELS). In this study, we show that ELS-induced schizophrenia-like phenotypes in mice correlate with a widespread increase of histone-deacetylase 1 (Hdac1) expression that is linked to altered DNA methylation. Hdac1 overexpression in neurons of the medial prefrontal cortex, but not in the dorsal or ventral hippocampus, mimics schizophrenia-like phenotypes induced by ELS. Systemic administration of an HDAC inhibitor rescues the detrimental effects of ELS when applied after the manifestation of disease phenotypes. In addition to the hippocampus and prefrontal cortex, mice subjected to ELS exhibit increased Hdac1 expression in blood. Moreover, Hdac1 levels are increased in blood samples from patients with schizophrenia who had encountered ELS, compared with patients without ELS experience. Our data suggest that HDAC1 inhibition should be considered as a therapeutic approach to treat schizophrenia.

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Section: Materials/subjects and Methodsmentioning

confidence: 99%

HDAC1 links early life stress to schizophrenia-like phenotypes

Bahari‐Javan

Varbanov

Halder

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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“…Two options exist to include large numbers of patients or study participants: by recruiting patients in multiple centers or by including patients from multiple (existing) cohorts. The former one requires a decision on either a central IT-infrastructure, providing a defined set of software tools for all participating centers (see also Demiroglu et al, 2012), or a decentralized IT-infrastructure, integrating data from the respective local software tools available at the participating centers. The latter one requires an appropriate handling of heterogeneous study contexts and data qualities as well as a mapping of data items (Flachenecker et al, 2014).…”

Section: It-requirements For Longitudinal and Large Cohort Studiesmentioning

confidence: 99%

“…Longitudinal studies are required and are already performed (Demiroglu et al, 2012;Warner et al, 2008) since the patients need to be followed up for many years to observe the disease progression, therapy effects, or the change in quality of life. In addition, many mental disorders and degenerative diseases, such as Multiple Sclerosis or Huntington's disease, have an early onset.…”

Section: Introductionmentioning

confidence: 99%

Changing requirements and resulting needs for IT-infrastructure for longitudinal research in the neurosciences

Buckow

Quade

Rienhoff

et al. 2016

Neuroscience Research

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“…From then until the biomedical research project, the KFO 241, was able to use its IT-infrastructure, 12 which consists of more IT components than just the biospecimen management system, took another 10 months. This also included setting up and developing further IT-components, programming of interfaces between the components and buying and installing dedicated server hardware.…”

Section: How-to-guidementioning

confidence: 99%

“…This manual entry approach progresses to Excel sheets and to state-of-the-art options, such as professional biobanking software products. 12,13 An overview of the latter is available on the ISBER marketplace.…”

Section: Introductionmentioning

confidence: 99%

How to Design Biospecimen Identifiers and Integrate Relevant Functionalities into Your Biospecimen Management System

Nussbeck

Skrowny

O'Donoghue

et al. 2014

Biopreservation and Biobanking

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Effective tracking of biospecimens within a biobank requires that each biospecimen has a unique identifier (ID). This ID can be found on the sample container as well as in the biospecimen management system. In the latter, the biospecimen ID is the key to annotation data such as location, quality, and sample processing. Guidelines such as the Best Practices from the International Society of Biological and Environmental Repositories only state that a unique identifier should be issued for each sample. However, to our knowledge, all guidelines lack a specific description of how to actually generate such an ID and how this can be supported by an IT system. Here, we provide a guide for biobankers on how to generate a biospecimen ID for your biobank. We also provide an example of how to apply this guide using a longitudinal multi-center research project (and its biobank). Starting with a description of the biobank's purpose and workflows through to collecting requirements from stakeholders and relevant documents (i.e., guidelines or data protection concepts), and existing IT-systems, we describe in detail how a concept to develop an ID system can be developed from this information. The concept contains two parts: one is the generation of the biospecimen ID according to the requirements of stakeholders, existing documentation such as guidelines or data protection concepts, and existing IT-infrastructures, and the second is the implementation of the biospecimen IDs and related functionalities covering the handling of individual biospecimens within an existing biospecimen management system. From describing the concept, the article moves on to how the new concept supports both existing or planned biobank workflows. Finally, the implementation and validation step is outlined to the reader and practical hints are provided for each step.

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Managing sensitive phenotypic data and biomaterial in large-scale collaborative psychiatric genetic research projects: practical considerations

Cited by 19 publications

References 16 publications

HDAC1 links early life stress to schizophrenia-like phenotypes

HDAC1 links early life stress to schizophrenia-like phenotypes

Changing requirements and resulting needs for IT-infrastructure for longitudinal research in the neurosciences

How to Design Biospecimen Identifiers and Integrate Relevant Functionalities into Your Biospecimen Management System

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