Projects

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NXT-EYE: integrated genomics and transcriptomics for gene identification in inherited retinal degeneration Ghent University

Elfride De Baere
Department of Pediatrics and medical genetics

Inherited retinal degeneration (RD) is responsible for 5% of blindness worldwide. Genetic
studies have revealed underlying molecular defects in ~50% of individuals with RD, most of
which are located in the coding portion of the genome. The advent of next-generation sequencing (NGS) has revolutionized the genetic landscape. However, the massive amount of
data produced by NGS hampers disease gene identification, requiring ...

Gene identification in female patients with intellectual disability and skewed X-inactivation. KU Leuven

Guido Froyen
Human Genome Laboratory, Department of Human Genetics
Intellectual disability (ID), with a prevalence of 2 % in thegeneral population, is one of the leading socio-economical problems of the Western world today and yet in 40 to 60 % of cases the etiologyis still unknown. ID is often associated with aberrations on the X-chromosome (X-linked ID, XLID). Traditionally, XLID studies were focused on male patients from XLID families. Females can be carrier of a mutation but are generally not affected ...

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID) Ghent University

Karim Vermaelen
Department of Internal medicine

Common variable immunodeficiency disorder (CVID) is a group of diseases in which the capacity to produce antibodies (immunoglobulins, Igs) against microbial infections is impaired. There is a marked decrease in one or more Ig classes and the number and/or function of certain B lymphocyte subsets may be reduced. In addition to an increased susceptibility to infections, CVID is also associated with auto-immune and malignant conditions. The ...

Gene identification and zebrafish disease modeling of inherited bone disorders University of Antwerp

Wim Van Hul
Medical genetics of obesity and skeletal disorders (MGENOS)
The requested funding will be used to actively sustain the fruitful ongoing collaborations between the five research groups mentioned below. Each of the five groups have their own complementary expertise in the field of bone development, bone metabolism and modeling and molecular analysis of heritable bone disorders. The general research focus of the different groups is to identify the causal gene mutations and to elucidate the ...

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID). Ghent University

Elfride De Baere
Department of Pediatrics and medical genetics, Department of Internal medicine

Common variable immunodeficiency disorder (CVID) is a group of diseases charachterized by a decrease in immunoglobulines and in number and/or function of B-lymphocyte subsets. Its heterogeneity complicates the elucidation of underlying disease mechanisms and gene defects.

This study aims to develop a classification of CVID patients integrating clinical data, immunophenotyping, molecular analyses and next-generation sequencing, in ...

Identification of a novel gene causing frontotemporal lobar degeneration and amyotrophic lateral sclerosis through whole genome sequencing. University of Antwerp

Ilse Anne-Maria Leo Gijselinck
VIB CMN - Neurodegenerative Brain Diseases Group
Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are lethal neurodegenerative disorders; however an appropriate therapy is not available. They belong to the same spectrum of disorders, suggesting that they share overlapping disease mechanisms. Although several genes have been identified, these do not fully explain the genetic aetiology so that other genes remain to be identified. One such gene resides at ...

Identification of coding and non-coding cancer drivers from whole-genome re-sequencing data using gene regulatory network analysis. KU Leuven

Stein Aerts
Laboratory of Computational Biology (VIB-KU Leuven Center for Brain & Disease Research), Laboratory of Molecular Biology of Leukemia (VIB-KU Leuven Center for Cancer Biology)

Identification of coding and non-coding cancer drivers using gene regulatory network analysis

Regulation of gene transcription is an essential process, governing complex spatio-temporal expression patterns in every living cell. Gene regulation underlies processes such as the development of embryonic stem cells into various differentiated cell types, or the reprogramming of normal cells into cancer cells. Cancer is characterized by high ...

Identification and characterization of gene functions involved in synergistic interactions in a pollutant degrading multi-species bacterial consortium. KU Leuven

Dirk Springael
Division of Soil and Water Management, Centre of Microbial and Plant Genetics
This project aims at determining functions at the genetic level which are important in the interactions between different bacterial members of a multispecies bacterial consortium (MBC) degrading synergistically the phenylurea herbicide linuron. The consortium consists of three bacterialstrains belonging to three different species. Both the synergistic metabolic and physical interactions have been well-described previously. The project starts ...

Identification of the major determinants that explain intolerance to gene duplication in the flowering plants Ghent University

Yves Van de Peer
Department of Plant Biotechnology and Bioinformatics

Genomes are dynamic entities that change over time. An important mechanism by which genomes
evolve novel functions is gene and genome duplication. However, not all cellular processes are
equally malleable by evolution through gene duplication. Studies in human genomes have revealed
that certain genes might be intolerant to duplication, leading to human disease. Similarly, we
recently discovered that many flowering plant ...