Within the VIB Department of Molecular Genetics, I am coordinating NGS of patient cohorts with various forms of complex diseases of the central and peripheral nervous system. We have successfully constructed NGS fragment libraries and performed several NGS projects in-house including whole exome sequencing, targeted resequencing, amplicon sequencing and whole transcriptome sequencing project. In the near future we will be developing in-house ChIP and Bisulfite sequencing library construction and analysis pipeline for studying epigenetic phenomena. Studies suggest that environmental factors may contribute to neurodegeneration through induction of epigenetic modifications, such as DNA methylation, and chromatin remodeling, which may induce alterations in gene expression programs.

My previous work was focused on the molecular genetics and cellular pathogenic mechanisms of axonal neuropathies. I identified the hot-spot mutations in the small heat-shock proteins HSPB8 and HSPB1 - associated with distal HMN and CMT2 and further showed that mutations in these proteins cause motor neuron specific neurite degeneration. Recently, my interest has shifted to the field of Translational Genomics, a field of translational research that builds on the application of novel genetic discoveries towards the development of improved diagnostics. Our major aims are to identify new molecular mechanisms for disease causation and effective drug treatment for neurodegenerative diseases. My main focus will be on developing functional genomics strategies to discriminate innocent polymorphism from pathogenic variants coming from next-generation sequencing (NGS).

My research centers around genetic discoveries facilitating the analysis of complex neurological diseases of the central and peripheral nervous system. With my work, I aim to contribute to the identification of genetic variations i.e. pathogenic mutations in causative and risk genes in different populations of Peripheral neuropathy and Neurodegenerative brain diseases cohorts.The VIB Department of Molecular Genetics has large study populations of patients, relatives, and healthy control individuals for genetic studies, aimed at identifying novel disease genes. For this purpose a Centralized Service Facility (CSF) was initiated (amongst other genomic services) to execute in-house Next-generation sequencing (NGS) applications. For all NGS applications, CSF has the required infrastructure and offers service and advice on experimental design, sequencing library preparation, data analysis and cost effective variant validation processes. In-house infrastructures include Library construction tools (Beckman Coulter Biomek FXP robotic platform to automate library preps; Caliper LabChip GX platform for automated electrophoretic separations of RNA, DNA and Protein); Massive parallel sequencing platforms (Life Technology SOLiD 5500xl-Wildfire, Applied Biosystems ABI3730XL, and Illumina MiSeq); High throughput variant validation platforms (Sequenom MassARRAY used for SNP genotyping and Fluidigm-Biomark HD system for allele-specific SNP genotyping assays and gene expression studies). We have successfully constructed NGS fragment libraries and performed several NGS projects in-house including whole exome sequencing, targeted resequencing, amplicon sequencing and whole transcriptome sequencing projects. My current focus is on implementing genomics strategies to efficiently identify and validate pathogenic variants coming from NGS. At the CSF, bioinformatics is an integral part of the service, ranging from basic quality control to more complex data analysis.

Molecular genetics analysis of patients with Peripheral NeuropathyIdentification of mutations affecting the Peripheral nervous system

implementing genomics strategies to efficiently identify and validate pathogenic variants coming from Next generation sequencing

Next generation sequencing applications; library constructions, whole exome sequencing, RNA-seq, Targeted resequencing projects