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Keybot 12 Ergebnisse  www.uantwerpen.be
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VIB-Follow-up van genoom-wijde associatiestudies in a krachtige studiepopulatie van Belgische FTLD patiënten.
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VIB-Follow-up of genome-wide association studies in a powerful study population of Belgium FTLD patients.
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Een genoom-wijde zoektocht naar een gen voor erfelijke distale motorische neuropathie.
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A genome-wide search for the distal hereditary motor neuropathy gene.
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In dit project wordt naar genen gezocht betrokken bij ouderdomsslechthorendheidn lawaai-geïnduceerde doofheid en otosclerose. Via een genoom-wijde associatiestudie worden bij aangetaste en gezonde proefpersonen honderdduizenden genetische varianten bepaald.
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The objective of this project is to find genes involved in age-related hearing impairment, nloise-induced hearing loss and otosclerosis. In a genome-wide association study, affected and non-affected persons are genotyped for hundred thousends of genetic variants across the entire genome. These variants are tested for association with the affection status. Apart from classical statistical tests, we will apply new analysis methods that are only possible if whole genome data are available.
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De mijlpalen van dit project zijn: - Uitbouw van een biobank voor hoogbegaafdheidsonderzoek ¿ Identificatie van kandidaatgenen voor hoogbegaafdheid via een SNP gebaseerde genoom¿wijde associatiestudie ¿ De studie van de relatie tussen copy number variaties (CNVs) en hoogbegaafdheid
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The aim of the project is to initiate and perform state of the art molecular genetics/genomics research on giftedness in children starting from the large and unique population collected by CBO. The milestones of this project are: ¿ Construction of a bio bank for giftedness research ¿ Identification of candidate genes for giftedness using a SNP based whole genome association approach ¿ Determination of the involvement of copy number variations (CNVs) in the etiology of giftedness
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De mijlpalen van dit project zijn: - Uitbouw van biobank - Identificatie van kandidaatgenen voor hoogbegaafdheid via een genoom-wijde associatiestudie - Associatiestudies tussen hoogbegaafdheid en cognitie-gerelateerde genen - De studie van de relatie tussen "copy number variations" (CNV) en hoogbegaafdheid
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The aim of the project is to initiate molecular genetics/genomics research of giftedness in children starting from the unique population collected by CBO. The milestones of this project are: - Construction of a bio bank - Identification of candidate genes for giftedness using a SNP based whole genome association approach - Association studies for giftedness and cognition related genes - Determination the involvement of copy number variations (CNVs) in the etiology of giftedness
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De Genetische Service Faciliteit (GSF) is een centrale kernfaciliteit in het VIB Departement voor Moleculaire Genetica die aan de onderzoekers snel en professioneel, hoge doorvoer genetische analyses aanbiedt via een robotica platform. De aangeboden diensten omvatten onder meer DNA/RNA extracties, DNA sequenties, geno-typeringen van genetische merkers in patiënten/controle groepen en genoom-wijde segregatieanalyses in families.
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The Genetic Service Facility (GSF) is a central core facility in the VIB Department of Molecular Genetics that offers its researchers via a robotic platform different genetic analysis such as DNA/RNA extractions, DNA sequencing, SNP genotyping and genome-wide STR linkage analyses. Hereto, the GSF is equipped with 1 Biomek FX and 2 Biomek NX robot platforms (Beckman) for automatic pre- and post processing of samples, three 3730XL capillary sequencers (Applied Biosystems) for DNA sequencing and STR genotyping, a SEQUENOM platform for high-throughput mass array spectrometric SNP genotyping. More recently, the GSF has also acquired an ABI5500xl SOLiD for high-throughput next generation sequencing within divers applications. Also the isolation of DNA and RNA from various sources is centralized in the GSF using Magtration System8Lx and Magtration 12GCplus systems as well as the production of EBV transformed lymphoblast cell lines. With an optimized database system LIMS (Laboratory Information Management System) and the use of Electronic Lab Notebooks (ELN) in a Good Laboratory Practice (GLP) environment the majority of data processing is performed automatically and in optimal conditions. Because of the recognition by the University of Antwerp and the VIB of the GSF as a centralized core facility, their scientists can now make use of the genetic and genomic services at marginal cost.
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In dit project wordt naar genen gezocht betrokken bij ouderdomsslechthorendheidn lawaai-geïnduceerde doofheid en otosclerose. Via een genoom-wijde associatiestudie worden bij aangetaste en gezonde proefpersonen honderdduizenden genetische varianten bepaald.
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The objective of this project is to find genes involved in age-related hearing impairment, nloise-induced hearing loss and otosclerosis. In a genome-wide association study, affected and non-affected persons are genotyped for hundred thousends of genetic variants across the entire genome. These variants are tested for association with the affection status. Apart from classical statistical tests, we will apply new analysis methods that are only possible if whole genome data are available.
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Echter, de genen die vandaag gekend zijn veroorzaken allemaal relatief zeldzamere autosomaal dominante vormen van de ziekte en laten een aanzienlijke fractie van de patiënten onverklaard (ongeveer 80%). Om hieraan tegemoet te komen werden de eerste genoom-wijde associatie (GWA) studies opgestart op zoek naar meer frequente genetische variaties die het risico op FTLD kunnen beïnvloeden.
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In the past decade a lot of progress was made in elucidating the genetic and pathologic make-up of frontotemporal lobar degeneration (FTLD), one of the leading causes of dementia. The genes known to date however are implicated in the autosomal dominant forms of the disease and leave a significant fraction (about 80%) of patients as yet unresolved. Therefore the first genome-wide association (GWA) studies were initiated in search for more common genetic variants influencing risk for FTLD. An essential step in the identification of novel genetic risk factors for complex diseases is the replication and confirmation of GWA association signals in independent study populations. The aim of this research project is to provide these invaluable replication studies using a powerful, well-documented, homogenous Flanders-Belgian study population. We recently participated in a GWA of FTLD with TDP43 pathology, the major pathological subtype of FTLD. The study uncovered common genetic variation in the gene TMEM106B as a putative risk factor for FTLD-TDP. Samples to set-up a second large scale international GWA study of patients with a clinical diagnosis of FTLD, to which we contributed 256 patients, have now been collected and results of the genome-wide genotyping are expected by the end of 2010. For this research project we plan to perform in depth follow-up studies of these two GWA studies of FTLD. Hereto we will test association of the GWA top single nucleotide polymorphisms (SNPs) in our Flanders-Belgian FTLD sample; sequence candidate genes within the associated regions, saturate the loci with SNPs and define the minimal associated risk haplotype blocks by allelic, genotypic and haplotype-based association analysis; and ultimately tend to isolate the genetic variants responsible for the risk modifying effect by genomic sequencing of the minimal associated loci. A better understanding of the genes and proteins involved in the pathogenic cascade leading to FTLD will be instrumental for the development of targeted therapeutic strategies to alleviate the suffering of these patients.