Multi-omics strategies for detecting gene-environment interactions

Our DNA, 3 billion letters long, is the blueprint of life. People differ from each other in around 1% of these letters. However, it is largely unknown which of these differences cause disease, nor how exactly changes in DNA ultimately lead to disease. In my PhD research I contributed to the detection of these genetic risk factors and studied how these DNA changes actually disrupt the correct functioning of cells. Using the "Genome of the Netherlands" project results, in which the BBMRI-NL consortium fully mapped the DNA of 250 Dutch families, I was able to improve genetic research in other groups of people and thereby better detect genetic risk factors. I then looked at how these DNA changes disrupt individual cells in a large number of people participating in various Dutch bio-banks such as Lifelines. By looking at DNA, RNA, epigenetics and proteins at the same time, I was able to discover many genetic risk factors, which biological processes they disrupt, and which ones offer starting points for the development of new medicines that can repair these disrupted processes. In addition, through the large-scale re-use of RNA data, I was able to map how many genes relate together and to disease. With these big data analyses, I subsequently developed a new algorithm that is now being used to make a diagnosis more quickly in people with a serious illness. With my PhD research, I contributed to the immediate improvement of patient care and collected new knowledge that could help in the longer term with the development of new medicines.