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Genomic Medicine: Translation of Whole Genome Analyses to Health Genomics KU Leuven

Joris Vermeesch
Laboratory for Genetics of Malignant Disorders, Laboratory for Cytogenetics and Genome Research, Department of Human Genetics

The translational Genomic Medicine IOF program is situated at the interface between clinical practice and strategic fundamental research and in a tight junction with the CME. The program was partitioned in three discrete lines of research and valorisation: A first line of research is focusing on novel approaches for postnatal diagnosis using massive parallel sequencing and whole genome sequencing.  Both Prof. Vermeesch and Prof. Matthijs ...

GENOmics in MEDicine: From whole genome sequencing towards personalized medicine (GENOMED). University of Antwerp

Bart Loeys, Geert Mortier
Medical Genetics (MEDGEN), Medical Genetics (MEDGEN)
GENOMED is an interfaculty consortium of four research groups and Center of Excellence at the University of Antwerp. The general aim of GENOMED is to enhance genetic research in biomedical sciences by application of state-of-the-art technologies such as next generation sequencing (NGS), induced pluripotent stem cells (iPSC) and gene editing (CRISPR/Cas). In the past few years, GENOMED has focused on exome sequencing which has led to new gene ...

Identification of novel genes implicated in Charcot-Marie- Tooth neuropathies using next generation whole genome sequencing. University of Antwerp

Albena Jordanova
VIB CMN - Molecular Neurogenomics
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is clinically and genetically extremely heterogeneous. During the last two decades, molecular genetic studies have led to the successful identification of over 36 CMT-genes. Currently, only a few CMT-loci remain unresolved. This project addresses the identification of CMT-causing mutations and genes in two of them: DI-CMTA and CMT2G. Because of their private ...

Demonstration of yet undiscovered dentrification genes in Gram positive bacteria via whole genome sequencing Ghent University

Paul De Vos
Department of Biochemistry and microbiology

Denitrification is a redundant enzymatic process. Known denitrification genes could not yet been demonstrated in many gram positive bacteria despite the presence of a clear denitrification capacity. In this project, we will try to underpin the hypothesis that unknown genes are involved in the evolution of fixed nitrogen into nitrogen gas by whole genome sequencing of a selection of denitrifying bacilli.

Development of a Centre for Whole Genome Sequencing studies of Mycobacterium. University of Antwerp

Annelies Van Rie
Global Health Institute (GHI), Epidemiology and social medicine (ESOC)
Tuberculosis (TB) is a global problem, with > 9 million cases annually and rising numbers of multi-drug resistant TB (MDR-TB). In the 1990's, IS6110 DNA fingerprinting revolutionized the study of Mycobacterium tuberculosis (MTB). Using this technique, I performed groundbreaking studies that proved exogenous reinfection, challenged the dogma that most TB cases are due to re-activation of latent infection, opposed the belief that most MDR-TB is ...

experimental exploration of the uncertain road from whole genome duplication to evolutionary success Ghent University

Yves Van de Peer
Department of Biology, Department of Plant Biotechnology and Bioinformatics

Polyploidisation or whole genome duplication (WGD), is a widespread phenomena amongst

Eukaryotes but is especially abundant in the plant lineage. The extra genome copy can open a road

to evolutionary success by providing genetic material that is free to evolve new functionalities.

Nevertheless, WGD is generally not well tolerated due to subsequent changes in cell geometry and

genomic shock. ...

Whole Genome Sequencing to streamline TB diagnosis, improve TB surveillance and optimize individualized TB treatment: a pragmatic trial. University of Antwerp

Annelies Van Rie
Centre for Health Economics Research and Modelling of Infectious Diseases (CHERMID), Social Epidemiology & Health Policy (SEHPO), Vaccine & Infectious Disease Institute (VAXINFECTIO), Stellenbosch University, Institute of Tropical Medicine Antwerp (ITM), Ghent Universitary Hospital, Epidemiology and social medicine (ESOC)
Tuberculosis (TB) continues to be an important public health problem with more than 10 million new cases and over 1 million deaths annually. In low burden regions such as Flanders, immigration and drug resistance pose important hurdles to TB control efforts. Due to the challenges in the current diagnostic pathway, patients suffering from drug resistant TB often receive suboptimal treatment in the first months following their diagnosis, which can ...

Pathophysiological characterization of megakaryopoiesis and erythropoiesis: whole genome sequencing and functional studies KU Leuven

Kathleen Freson
Centre for Molecular and Vascular Biology

My PhD project aimed to gain more insight into megakaryopoiesis and erythropoiesis by studying patients with inherited thrombocytopenia and inherited anemia, respectively.

Firstly, in 2016, my host lab identified a germline heterozygous missense variant E527K in SRC in a large pedigree with dominant thrombocytopenia using whole genome sequencing. Patients that carry the E527K SRC variant present with ...

Whole genome reverse genetic predictions KU Leuven

Rob Jelier
Microbial and Plant Genetics (CMPG)

A central challenge in genetics is to understand when and why mutations alter the phenotype of an organism. One original motivation behind sequencing the human genome eleven years ago was the goal of being able to predict an individual’s risk of disease from their genome sequence. However, this promise has not yet been fulfilled. Model organisms can be used to readdress this problem. In a model organism such as budding yeast we can make ...