Within the Genomic Medicine cross-connection we focus on four main areas:

1. Genomics-assisted medical decision-making

The use of genomic information for guiding healthcare decisions is starting to become a reality. The exploration of polygenic risk score applications in the clinic is a cornerstone of this area. Our group supports researchers from the department of Internal Medicine and the whole Erasmus MC seeking to launch genomic investigations of their own directed at improving prevention, diagnostic and treatment plans of patients of Erasmus MC and beyond.

2. Integration of genomic discoveries across population-based and clinical studies

In Erasmus MC we have set up two population-based cohorts in adults (Rotterdam Study) and in children and their parents (Generation R). The cohorts enriched with several –omic datasets (genomic, transcriptomic, epigenetic, metabolomic, proteomic and microbiome profiling) serve as invaluable resource for epidemiological investigations. Bidirectional integration of clinical and epidemiological datasets is a key component of our translational research.

3. Utilizing genomics to understand disease

Deep genomic phenotyping seeks predicting observable physical or biochemical characteristics (phenotypes) from DNA and the output from other -omics platforms. The approach makes use of forefront techniques, biostatistical and bioinformatic analysis for the identification of (novel) biological pathways underlying rare and common diseases.

4. Innovative use of analytical methods and -omics databases

Our group applies cutting-edge methods for the analysis of genomic- and phenomic- BIG-data, including the use of AI approaches, such as machine learning (ML) in secure data environments and trusted pipelines. The ML techniques seeks the improvement of genetic prediction (from PRS), expand assessments for genomic studies (imputation) and integration of phenotypic and genetic classification. 

…and what about the BONES?

Within the musculoskeletal domain, our group is focused on understanding the genetic and environmental risk factors that influence the development of musculoskeletal disorders. This is a compelling area of research due to its complexity and its high burden on public health. By examining biomarkers across the lifespan, we aim to identify early indicators of conditions such as osteoporosis, sarcopenia, and frailty, which often lead to significant disability and a reduced quality of life in older adults. These conditions are multifactorial, involving a combination of genetic predisposition, lifestyle factors, and environmental influences.

Our long-term objective is to develop preventive interventions that can reduce the incidence or delay the onset of these conditions, with a particular emphasis on strategies that promote bone and muscle health from early life through to older age. We are committed to identifying effective biomarkers for early detection, developing targeted interventions, and advocating for policies and practices that support healthy aging. By focusing on promoting healthy beginnings, preventing the progression of disease, and fostering sustainable trajectories of health throughout the lifespan, we hope to enhance both the quality and longevity of life for individuals at risk of musculoskeletal disorders.

This research not only has the potential to transform clinical care by enabling more accurate diagnoses and treatments, but it also offers a pathway toward the prevention of age-related conditions that place a heavy burden on individuals, families, and healthcare systems worldwide.