Complex human genetics focuses on the analysis and interpretation of genetic data. It involves the application of statistical methods to understand the genetic basis of complex traits and diseases.
Key areas include the identification of genetic variants associated with phenotypic variation, for instance through genome-wide association studies (GWAS), heritability estimation (for a specific trait or between traits), and polygenic scores (PGS). Statistical genetics plays a crucial role in analyzing large datasets from array genotyping and sequencing technologies.
Results are aimed to:
Within the UMC Utrecht, five research groups are involved in complex genetics research, covering a range of neurological and cardiovascular diseases. Below, you will find detailed information for each of the research groups.
Jessica van Setten aims to unravel the genetic and biological mechanisms of cardiac diseases, with a focus on cardiomyopathies and heart failure. She focuses on genetic association studies testing common and rare variants (through genome-wide association studies, GWAS, and polygenic scores, PGS), and Loss-of-Function variants causing inactive genes (Loss-of-Function wide association studies, LoFWAS) For this, she combines large (genetic) datasets such as UK Biobank with deep-phenotyped in-house data of thousands of patients.
Bobby Koeleman and Remi Stevelink work on the genetic causes of epilepsy with a particular interest in translating genome-wide associations to clinical relevance. Remi is the co-lead of the ILAE analist group of the international consortium that conducts epilepsy GWAS. We are developing and evaluating polygenic risk scores of common and rare variants as predictors of disease and as modifiers of monogenic epilepsy.”
In his research, Sander van der Laan focuses on the genetic causes of atherosclerosis and its effects on plaque morphology that underly ischemic stroke and coronary artery disease, and subclinical atherosclerosis of the carotid and coronaries.
With his work he aims to move from genome-wide association studies loci to novel therapeutic targets and (surrogate) biomarkers for cardiovascular diseases through extensive in silico, and in vitro modelling.
Visit https://vanderlaanand.science for more information.
Ynte Ruigrok is a stroke neurologist and professor of genetics of cerebrovascular diseases. She is dedicated to uncovering the genetic architecture of aneurysmal subarachnoid hemorrhage, a subtype of stroke. Her overarching goal is to deepen understanding of its disease mechanisms, enhance the identification of high-risk individuals, and refine treatment strategies. Her research integrates genetics with epidemiology and imaging, adopting a strong translational perspective.