Because of my interest in the biology of the human
body, and more specific the function of DNA, I graduated with a BSc in
Biomedical Laboratory Technology back in 2012.
The first years my work focused on supporting the Neurodegenerative Brain Diseases (NBD) research group by examination of the molecular genetics of early-onset dementia. My work included the identification of novel genes and the characterization of newly discovered genetic variations in different populations, NBD cohorts and familial patients. This required the use of PCR techniques, Sanger sequencing, MASTR assay and fragment analysis with NovoSNP.
Today I assist the Diagnostic Service Facility (DSF), which purpose is to screen samples of patients on genes that are known to cause diseases of the central nervous system such as Alzheimer, Parkinson and dementia. These screenings can be of great value for the referring physicians and neurologists. By using the earlier mentioned techniques, I also support our medical doctors in training in order to help them with their research projects to extend the knowledge of the biology of neurodegeneration, and improve drug development for targeted patient groups.
As I start gaining more experience every year, my goal is to keep on learning and using new techniques to make a valuable contribution to all the research that is done in our department.
- DNA techniques
· Gel electrophoresis
· Sanger Sequencing
· Multiplex Amplicon Quantification (MAQ)
· Multiplex Amplification of Specific Targets for Resequencing (MASTR)
· DNA concentration measurement e.g. DropSense, Qubit® 2.0 Fluorometer, Nanodrop
- Mutation screening
· Fragment analysis i.e. NovoSNP, MAQs, Igv, Alamut