Genomic Disorders Nijmegen
DENOVO: Detection and interpretation of de novo mutations and structural genomic variations in mental retardation
| Applicant | Joris Veltman |
| Funding Agency: | European Research Counsil |
| Description: | This project DENOVO will contribute significantly to resolving the genetic causes of reproductively lethal disorders such as intellectual disability, provide critical knowledge on the frequency and consequences of de novo mutations in our genome and help to establish medical genome sequencing as a routine diagnostic approach. Read more... |
NOVEL - De NOvo genetic Variants in Embryonic development and early Lethality
| Applicant: | Alexander Hoischen |
| Funding Agency: | NWO Veni 2011 |
| Description: | Identification of: (1) mutations that cause embryonic lethality, resulting in pregnancy loss, and (2) mutations that are located outside the protein coding regions of the genome. This will be done by Next Generation Sequencing. Read more... |
Centre for Genome Diagnostics: Next-generation sequencing-based diagnostics as a routine clinical decision making tool in health care
| Applicant | Joris Veltman (coordinator overall project: Edwin Cuppen) |
| Funding Agency: | NGI Booster grant |
| Description: | Our primary objective as Centre for Genome Diagnostics is implementation of NGS-based diagnostics as a routine clinical decision making tool in health care within the next 5 years in The Netherlands. Read more... |
A novel strategy for the large scale identification of unknown PCLD genes
| Applicant | Joris Veltman en Joost Drenth |
| Funding Agency: | IGMD ronde 2010 |
| Description: | A novel strategy to identify unknown genes in polycystic liver disease. Read more... |
Functional mapping of whole-exome data in metabolic disease
| Applicant | Dirk Lefeber, Richard Rodenburg en Joris Veltman |
| Funding Agency: | IGMD ronde 2010 |
| Description: | In this project we will revolutionize the disease gene identification and validation process for these important metabolic diseases by combining a whole genome approach followed by targeted functional assays. Read more... |
High-throughput medical resequencing of candidate disease genes and genomic regions
| Applicant: | Joris Veltman |
| Funding Agency: | NWO Middelgroot 2007-2008 |
| Description: | This project aims to optimize and apply novel "whole genome" resequencing technology to the study of monogenic diseases with locus heterogeneity. Read more... |
gEUVADIS
| Applicant | Joris Veltman (coordinator overall project: Xavier Estivill) |
| Funding Agency: | EU FP7 Coordination and support action |
| Description: | Sharing capacity across Europe in high-throughput sequencing technology to explore genetic variation in health and disease. Read more... |
Aneuploidy
| Applicant: | Han Brunner and Joris Veltman |
| Funding Agency: | FP6-2005-LIFESCIHEALTH-6 |
| Description: | This workpackage focuses on the construction of a structural variability map of human chromosome 21, a human chromosome 21 segmental aneuploidy map, and on the understanding of its consequences and etiologic mechanisms. Read more... |
TECHGENE
| Applicant: | Hans Scheffer and Joris Veltman |
| Funding Agency: | FP7-HEALTH-2007 |
| Description: | The goal of the TECHGENE project is to incorporate the novel HTS technology in routine diagnostic laboratories for the improved diagnosis of genetically heterogeneous diseases. Read more... |
Identifying dosage sensitive genes causing mental retardation
| Applicant: | Joris Veltman and Bert de Vries |
| Funding Agency: | UMCN young researchers grant 2007 |
| Description: | The goal of this project is to identify the dosage sensitive genes in overlapping MR associated CNVs regions causing MR. For this we will perform in depth bioinformatic analyses of CNV data from MR patients as well as CNV data from control individuals. Read more... |
Genomic Profiling In Mental Retardation
| Applicant: | Bert de Vries |
| Funding Agency: | NWO Vidi 2007 |
| Description: | This research project aims:
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Unravelling the etiology and role of genomic CNV in human disease
| Applicant: | Lisenka Vissers |
| Funding Agency: | NWO Veni 2007 |
| Description: | Identification and characterization of (novel) genomic architectural features and molecular mechanisms underlying structural variation to better understand genomic (in)stability. Read more... |
Human Genome Disorders and Genomic Architecture
| Applicant: | Joris Veltman |
| Funding Agency: | NWO Vidi 2005 |
| Description: | Identifying and characterize novel genomic disorders, thereby improving our understanding of genomic architectural mechanisms underlying the vast burden of cytogenetic abnormalities seen in a clinical setting. Read more... |
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