ORCID Profile
0000-0003-2902-5650
Current Organisation
University of Bonn
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Publisher: Elsevier BV
Date: 03-2021
Publisher: Oxford University Press (OUP)
Date: 17-03-2015
DOI: 10.1093/BRAIN/AWV052
Publisher: Springer Science and Business Media LLC
Date: 17-03-2020
DOI: 10.1186/S13073-020-00725-6
Abstract: Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale. We empirically evaluate whether paralog-conserved or non-conserved sites in human gene families are important in NDDs. Gene family information was collected from Ensembl. Paralog-conserved sites were defined based on paralog sequence alignments 10,068 NDD patients and 2078 controls were statistically evaluated for de novo variant burden in gene families. We demonstrate that disease-associated missense variants are enriched at paralog-conserved sites across all disease groups and inheritance models tested. We developed a gene family de novo enrichment framework that identified 43 exome-wide enriched gene families including 98 de novo variant carrying genes in NDD patients of which 28 represent novel candidate genes for NDD which are brain expressed and under evolutionary constraint. This study represents the first method to incorporate gene family information into a statistical framework to interpret variant data for NDDs and to discover new NDD-associated genes.
Publisher: Springer Science and Business Media LLC
Date: 09-06-2020
DOI: 10.1186/S12915-020-00775-7
Abstract: Parkinson’s disease (PD) is a systemic disease clinically defined by the degeneration of dopaminergic neurons in the brain. While alterations in the gut microbiome composition have been reported in PD, their functional consequences remain unclear. Herein, we addressed this question by an analysis of stool s les from the Luxembourg Parkinson’s Study ( n = 147 typical PD cases, n = 162 controls). All in iduals underwent detailed clinical assessment, including neurological examinations and neuropsychological tests followed by self-reporting questionnaires. Stool s les from these in iduals were first analysed by 16S rRNA gene sequencing. Second, we predicted the potential secretion for 129 microbial metabolites through personalised metabolic modelling using the microbiome data and genome-scale metabolic reconstructions of human gut microbes. Our key results include the following. Eight genera and seven species changed significantly in their relative abundances between PD patients and healthy controls. PD-associated microbial patterns statistically depended on sex, age, BMI, and constipation. Particularly, the relative abundances of Bilophila and Paraprevotella were significantly associated with the Hoehn and Yahr staging after controlling for the disease duration. Furthermore, personalised metabolic modelling of the gut microbiomes revealed PD-associated metabolic patterns in the predicted secretion potential of nine microbial metabolites in PD, including increased methionine and cysteinylglycine. The predicted microbial pantothenic acid production potential was linked to the presence of specific non-motor symptoms. Our results suggest that PD-associated alterations of the gut microbiome can translate into substantial functional differences affecting host metabolism and disease phenotype.
Publisher: EMBO
Date: 17-01-2022
Publisher: EMBO
Date: 12-2021
Publisher: Wiley
Date: 30-07-2016
DOI: 10.1002/MGG3.235
Publisher: Massachusetts Medical Society
Date: 18-04-2019
DOI: 10.1056/NEJMC1805100
Publisher: Springer Science and Business Media LLC
Date: 2011
DOI: 10.1186/GM259
Publisher: Cold Spring Harbor Laboratory
Date: 19-12-2022
DOI: 10.1101/2022.12.17.520865
Abstract: The COVID-19 Disease Map project is a large-scale community effort uniting 277 scientists from 130 Institutions around the globe. We use high-quality, mechanistic content describing SARS-CoV-2-host interactions and develop interoperable bioinformatic pipelines for novel target identification and drug repurposing. Community-driven and highly interdisciplinary, the project is collaborative and supports community standards, open access, and the FAIR data principles. The coordination of community work allowed for an impressive step forward in building interfaces between Systems Biology tools and platforms. Our framework links key molecules highlighted from broad omics data analysis and computational modeling to dysregulated pathways in a cell-, tissue- or patient-specific manner. We also employ text mining and AI-assisted analysis to identify potential drugs and drug targets and use topological analysis to reveal interesting structural features of the map. The proposed framework is versatile and expandable, offering a significant upgrade in the arsenal used to understand virus-host interactions and other complex pathologies.
Publisher: Springer Science and Business Media LLC
Date: 17-05-2017
DOI: 10.1038/EJHG.2017.61
Publisher: Springer Science and Business Media LLC
Date: 09-03-2015
DOI: 10.1038/NG.3239
Publisher: Elsevier BV
Date: 07-2009
Publisher: Elsevier BV
Date: 07-2011
DOI: 10.1016/J.NBT.2010.10.003
Abstract: The "4D Biology Workshop for Health and Disease", held on 16-17th of March 2010 in Brussels, aimed at finding the best organising principles for large-scale proteomics, interactomics and structural genomics/biology initiatives, and setting the vision for future high-throughput research and large-scale data gathering in biological and medical science. Major conclusions of the workshop include the following. (i) Development of new technologies and approaches to data analysis is crucial. Biophysical methods should be developed that span a broad range of time/spatial resolution and characterise structures and kinetics of interactions. Mathematics, physics, computational and engineering tools need to be used more in biology and new tools need to be developed. (ii) Database efforts need to focus on improved definitions of ontologies and standards so that system-scale data and associated metadata can be understood and shared efficiently. (iii) Research infrastructures should play a key role in fostering multidisciplinary research, maximising knowledge exchange between disciplines and facilitating access to erse technologies. (iv) Understanding disease on a molecular level is crucial. System approaches may represent a new paradigm in the search for biomarkers and new targets in human disease. (v) Appropriate education and training should be provided to help efficient exchange of knowledge between theoreticians, experimental biologists and clinicians. These conclusions provide a strong basis for creating major possibilities in advancing research and clinical applications towards personalised medicine.
Publisher: American Association for the Advancement of Science (AAAS)
Date: 03-06-2015
DOI: 10.1126/SCITRANSLMED.AAB0194
Abstract: Human-genomics programs work together worldwide to speed the translation of genomic medicine to the clinic.
Publisher: Springer Science and Business Media LLC
Date: 12-02-2019
DOI: 10.1038/S41467-018-07953-W
Abstract: Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase ( VARS ) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies.
Publisher: Springer Science and Business Media LLC
Date: 09-1995
DOI: 10.1038/NG0995-93
Publisher: Springer Science and Business Media LLC
Date: 09-2004
DOI: 10.1038/NG0904-925
Publisher: Elsevier BV
Date: 10-2014
Publisher: Elsevier BV
Date: 06-2019
Publisher: Elsevier BV
Date: 08-2018
Publisher: Oxford University Press (OUP)
Date: 02-07-2010
Publisher: Springer Science and Business Media LLC
Date: 19-02-2002
DOI: 10.1038/NG848
Publisher: Elsevier BV
Date: 2017
Publisher: Wiley
Date: 17-01-2019
DOI: 10.1002/EPI4.12297
Publisher: Royal Society of Chemistry (RSC)
Date: 2019
DOI: 10.1039/C9EM00068B
Abstract: A multi-disciplinary perspective on connecting chemistry, exposure and medical information to “neurotoxicity” for mass spectrometry-based environmental assessment, including multiple interactive resources for readers to use and explore.
Publisher: Society for Neuroscience
Date: 18-06-2014
Location: No location found
Location: Germany
Location: Germany
Location: Canada
No related grants have been discovered for Rudi Balling.