About our research group/lab
Our research
Genomic Medicine is an emerging medical discipline that involves the use of genomic information about an individual as part of clinical care (e.g. for diagnostic or therapeutic decision-making), as well as the evaluation of health outcomes and policy implications of such use.
Our ambition is to initiate, stimulate, and support the integration of state-of-the-art genomic technologies and research methods into fundamental, translational, and clinical applications within the Department of Internal Medicine.
Aims of the GENOMICS cross-connection
1. Provide methodological support to other research groups within the department, including advice on:
- genetic epidemiology study designs;
- experimental setups;
- bioinformatic and statistical data handling and analysis;
- the use of genomic tools and databases.
2. Support the development of novel genomics-based research ideas, including planning and writing of grant applications and research proposals, as well as guidance on data management, FAIRification, and long-term sustainability of future work.
3. Foster collaborative structures with PhD researchers from other groups within the department, supporting the use and joint analysis of genomic data in close collaboration with expert members of our team.
4. Stimulate genomic research and translational efforts in the clinic, promoting bench-to-bedside and bedside-to-bench approaches, and leveraging genomic applications to improve patient care.
Our Team
- Bioinformatics
Jeroen van Rooij helps bring advanced data science into everyday medical research. He develops smart computer tools that make sense of large amounts of genetic information, and he works closely with doctors and researchers to apply these insights in real clinical projects such as GOALL and SINTER. Jeroen also contributes to national data‑infrastructure initiatives and explores new opportunities using machine learning and AI. His work supports many groups across Internal Medicine, making it easier for them to use genomic data to improve healthcare.
- Statistical Genetics
Carolina Medina‑Gomez studies how our genes influence health by analysing very large datasets from projects like the Rotterdam Study, Generation R and the UK Biobank. She works with international research teams to better understand diseases affecting bones, metabolism and more. Carolina also has expertise in microbiome research, giving her a broad view of how genetics and biology interact. By helping researchers design strong studies and interpret complex data, she plays a key role in bringing genetic insights into real medical progress.
- Functional Genetics
Cindy Boer focuses on understanding how genetic differences actually affect the body. She uses modern laboratory techniques—such as studying gene activity, proteins, or the microbiome—to uncover the biological pathways behind disease. Cindy also collaborates on projects building human disease models, which help translate discoveries into new treatments or prevention strategies. By connecting genetic findings with real biological mechanisms, she helps researchers across Internal Medicine move from data to meaningful insights for patient care.
- Genomics Physician
Katerina Trajanoska bridges medicine and genetics. She works with clinicians to interpret whole‑genome and exome sequencing data, helping identify genetic factors that may influence conditions such as musculoskeletal and cardiovascular diseases. Katerina focuses on discovering risk markers and translating genetic knowledge into practical tools for diagnosis and prevention. With her medical background and research expertise, she helps shape studies that bring the benefits of genomics directly into patient care.
Our projects
Key Research Programs and Initiatives
GOALL – Genotyping on All (Koers23)
GOALL is a hospital-wide initiative at Erasmus MC to bring genetic information into routine clinical care. It aims to integrate genomic data for all patients in Internal Medicine to improve diagnostics, risk stratification, and prevention strategies. GOALL combines polygenic risk scores, rare variant panels, and pharmacogenetic tools, making genomic insights directly applicable in the clinic.
SINTER is a large clinical study recruiting over 5,500 patients to better understand bone fragility. It combines genomic data, clinical assessments, and imaging to identify genetic and molecular factors contributing to skeletal weakness, aiming to guide personalized treatment and prevention.
LEGENDARE (ERC Advanced Grant)
LEGENDARE is an ERC-funded research program focused on uncovering the genetic and molecular mechanisms underlying skeletal fragility. By studying these mechanisms, the project aims to improve early diagnosis, risk prediction, and the development of new therapies for bone diseases.
iCELL– Convergence in a Dish
iCELL is a collaborative flagship project with TU Delft and Erasmus University Rotterdam. It develops patient-specific, cell-based disease models that bridge laboratory biology and clinical application, supporting precision medicine development.
Musculoskeletal Knowledge Portal
An international, open-access genomics platform that aggregates clinical and genomic data to accelerate research in musculoskeletal diseases. It allows researchers and clinicians to explore genetic associations, validate findings, and support translational studies.
Microbiome & Multi-omics Research
Projects combining genomics with microbiome, proteomics, and other molecular data to uncover the causes of rare and common diseases. These integrated analyses support a deeper understanding of disease mechanisms relevant to internal medicine and musculoskeletal health.
Genomics in Clinical Diagnostics
Developing cost-effective genetic screening tools to detect rare mutations and enhance diagnostics for conditions including lipid disorders, immune diseases, bone fragility, and thyroid disorders. These tools aim to make genomic diagnostics more widely accessible in clinical practice.Key Publications
Selected Publications – From Molecular Insight to Clinical Impact
Lifestyle Intervention Randomized Controlled Trial for Age-Related Macular Degeneration (AMD Life): Study Design.
This randomized controlled trial links lifestyle factors to disease progression in AMD, offering concrete evidence for prevention strategies that are relevant for internists managing aging populations and cardiometabolic risk.
Alexandra P M de Koning-Backus, , Jeroen G J van Rooij
Nutrients (2023)
Mapping the genetic landscape of early onset Alzheimer’s disease in a cohort of 36 families.
Provides insight into rare and inherited forms of Alzheimer’s disease, improving genetic counseling, diagnosis, and family-based risk assessment in clinical practice.
Alzheimer’s Research & Therapy (2022)
Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP 43 Proteinopathy: What Can We Learn from Proteomics?
Uses proteomics to identify disease pathways, illustrating how molecular profiling can reveal targets for future diagnostics and therapies in neurodegenerative disease.
International Journal of Molecular Sciences (2021)
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.
Directly relevant for clinicians using genetic test results. This study shows how variant interpretation evolves over time and highlights the importance of phenotype-driven assessment in Internal Medicine.
Genetics in Medicine (2020)
Hippocampal transcriptome profiling combined with protein-protein interaction analysis elucidates Alzheimer’s disease pathways and genes.
Demonstrates how combining transcriptomics with network analysis can uncover disease mechanisms, supporting biomarker discovery and precision diagnostics.
Neurobiology of Aging (2018)
Vitamin K antagonist anticoagulant usage is associated with increased incidence and progression of osteoarthritis.
Links commonly used anticoagulants to osteoarthritis risk and progression, with direct implications for treatment decisions in older and multimorbid patients.
Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand.
Identifies a genetic pathway relevant to joint disease, opening avenues for risk prediction and targeted intervention.
Annals of the Rheumatic Diseases (2017)
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
One of the largest genetic studies in osteoarthritis, demonstrating the power of international collaboration to identify clinically relevant pathways.
Cell (2021)
Evaluation of commonly used analysis strategies for epigenome and transcriptome wide association studies through replication of large‑scale population studies.
Provides practical guidance for researchers designing and interpreting large-scale omics studies, improving robustness and reproducibility.
Collaborations
Collaborations Across Erasmus MC
Endocrinology
A long-standing collaboration focused on bone health, metabolism, and rare endocrine disorders. Clinicians and researchers work together to translate genomic insights into patient care, risk assessment, and novel therapeutic strategies.
General Practice & Orthopedics
Joint research on osteoarthritis, aging, and musculoskeletal health. By combining genomic data with clinical outcomes and imaging, we aim to better understand disease progression and develop personalized interventions.
Oral & Maxillofacial Surgery
Collaboration on bone genomics and skeletal disorders, with an emphasis on integrating genetic and molecular data to guide surgical planning, bone regeneration approaches, and patient-specific risk assessment.
Vascular Medicine & Cardiometabolic Care
Partnerships exploring genetic risk factors for cardiovascular disease and developing prevention strategies. Genomic screening supports clinicians in identifying high-risk patients and tailoring lifestyle or pharmacological interventions.
Immunology / PID Clinic
Joint development of genomic diagnostics for immune-related disorders. This enables rapid identification of genetic causes in primary immunodeficiencies and informs personalized treatment plans.
Ophthalmology
Collaboration on the genomics of age-related macular degeneration (AMD). Integrating genomic and clinical data supports early detection, risk stratification, and research into targeted therapies.
Clinical Genetics & Diagnostics
Partnerships focused on developing and implementing genomic screening tools across multiple conditions. These collaborations directly support internal medicine by enabling early diagnosis, patient stratification, and more precise interventions.
National and International Networks
International GWAS Consortia
Active participation in large-scale international genetics consortia such as GIANT, CHARGE, and GLGC. These collaborations advance global research on musculoskeletal, metabolic, and cardiovascular traits, providing insights that inform risk prediction and patient management.
Musculoskeletal Knowledge Portal Network (HuGeAMP)
Partnership with the international MSK Knowledge Portal initiative, creating open-access platforms that integrate genetic, molecular, and clinical data for bone and joint disease research. These resources allow clinicians and researchers to explore disease mechanisms, validate findings, and identify potential therapeutic targets.
KP4CD Knowledge Portal Network
Contributing to a global network providing accessible genomic data across multiple disease areas. These resources support cross-cohort analyses, hypothesis testing, and translational research that informs patient care.
National collaboration on health data infrastructure. Our group helps define genomic data standards and ensures secure, standardized access to clinical and research datasets, strengthening reproducibility and translational impact.
TU Delft & Erasmus University Rotterdam – Convergence Programme
As part of the iCELL flagship, we develop personalized cell-based disease models using advanced genomics and imaging technologies. These models help predict patient-specific responses and accelerate precision medicine applications.
National and International Clinical Partners
We maintain multiple collaborations in clinical genomics, including projects in:
- Breast cancer and familial hypercholesterolemia
- Eye diseases, such as age-related macular degeneration (AMD)
- Primary immunodeficiencies (PID) and cystic fibrosis
- Implementation of pharmacogenomics in clinical practice
These collaborations directly support internal medicine by enabling early diagnosis, patient stratification, and individualized therapeutic strategies, making genomics a practical tool in routine clinical care.
Funding & Grants
Key Funding and Infrastructure – Enabling Genomics in Internal Medicine
European Reaseach Council (ERC) - Advance Grant (LEGENDARE)
Supports high-risk, high-impact research into the genetic and molecular mechanisms of skeletal fragility. For clinicians and researchers, this funding enables long-term, in-depth studies that directly inform future diagnostics, risk prediction, and treatment strategies in bone and metabolic disease.
NWO Roadmap Infrastructure Programme
Provides national funding for large-scale research infrastructure, including advanced genomics and multi-omics platforms. This investment ensures access to state-of-the-art technologies and data analytics that support both clinical research and implementation within Internal Medicine.
HEALTH‑RI (National Health Data Infrastructure)
A national initiative building the foundations for secure, standardized sharing and analysis of biomedical data. Our involvement helps ensure that clinical and genomic data from Internal Medicine can be reused responsibly for research, improving reproducibility and accelerating translation to patient care.
International GWAS Consortia (e.g., GIANT, CHARGE, GLGC)
Participation in large international genetics consortia provides access to shared data, expertise, and funding streams. These collaborations strengthen research on cardiometabolic, musculoskeletal, and complex traits, and allow findings from Erasmus MC to contribute to – and benefit from – global discovery efforts.
More info:
- GIANT
- CHARGE
- GLGC
Internal Erasmus MC Support
Departmental and institutional funding supports the implementation of genomics in clinical care, including GOALL projects and broader genomics innovation initiatives. This internal support is essential for moving from research findings to real-world clinical use within Internal Medicine.
