The interpretation of hidden and non-coding DNA variants leads to novel genetic diagnoses hesis

Thursday 13 June 2024, 12:30 pm
PhD candidate
P.G.H. van der Sanden MSc.
prof. dr. L.E.L.M. Vissers, prof. dr. H.G. Brunner
dr. A. Hoischen

Worldwide, approximately 300 million people have a rare disease, with at least 40% caused by genetic factors. Despite advances in genomic knowledge and technology, over half of patients with suspected genetic disorders remain undiagnosed. The lack of a genetic diagnosis leads to uncertainty regarding possible treatment, prognosis, and recurrence risk, imposing a significant burden on the lives of the patients and their families. This thesis demonstrates that two approaches—detecting hidden genetic variants in existing datasets and employing new technologies to identify all types of genetic variation in the genome—yield new diagnoses. While the research in this thesis has uncovered several new diagnoses for patients with a rare disease, it also underscores the need for further improvements in both detection and interpretation of genetic variants throughout the entire genome, including non-coding regions.

Bart van der Sanden (1995) obtained his Master’s degree in Medical Biology from the Radboud University in 2019. In April 2019, he started as PhD candidate at the Department of Human Genetics of the Radboudumc as part of the Translational Genomics group. Currently, he is working as postdoctoral researcher in the Genomic Technologies group of the same department.