Medical Genomics

Genomic Therapeutics

Our long-term goal is to develop and implement novel RNA and DNA therapeutics. We are already seeing how our increased knowledge from innovative genomics technologies can identify new therapeutic targets and novel therapeutic approaches. Our subtheme aims to facilitate and train scientists that can both develop, apply and translate results from such state of the art genomics methods to the clinic. We aim to integrate disease modelling, target identification and therapy development and align with demands of the regulatory bodies. We will continuously incorporate new platforms and treatment modalities by in-house developments and forging new collaborations.

Ambassador: Willeke van Roon-Mom

Pharmacogenomics

Everyday a large number of patients receive medications that are, at an individual level, either ineffective or dangerous. Pharmacogenomics aims to improve the outcomes of drug treatment by gaining a better understanding of the genetic mechanisms that result in this inter-individual variability in drug response. Genome science is continuously providing new tools that help to unravel the genetic origin of this variability. By applying cutting-edge genomic technologies available within the medical genomics theme, and trough mechanistic and clinical studies, we aim to improve our ability to predict drug response and deliver personalized medicine to patient care in a wide range of disorders.

Ambassador: Jesse Swen

Single-cell Genomics

Single-cell genomics have revolutionized our understanding of biological systems by allowing researchers to measure the molecular properties of millions of cells simultaneously. At the LUMC, we use cutting-edge single-cell technologies to map the cellular heterogeneity of complex tissues in humans and model organisms throughout development. Combining these cell maps with advanced machine learning methods, we model how cellular states are perturbed in diseases and how they change after treatment. The single-cell genomics subtheme actively participates in the Single Cell Network Leiden (scNL) to bring together researchers and clinicians with shared interest in single-cell technology, analysis, and application.

Ambassador: Ahmed Mahfouz

Tumour-genomics

In the subtheme tumor-genomics, we aim to determine and understand genetic alterations in individual tumors in order to deliver precision diagnostics and treatment to individual cancer patients. By close collaboration between pathologists, molecular biologists and data scientists, we continuously optimize our (DNA-NGS, RNA-NGS, WGS and Liquid Biopsy) panels according to new molecular targets, seek for new technology to cover molecular changes better and faster, and employ AI for precision diagnosis. Already, NGS techniques found their place in the clinic, where molecular testing is performed on daily basis for the detection of druggable targets, but also to identify rare (subtypes of) tumors. As such, Medical Genomics is closely related to all clinical Tumor Boards of the LUMC, as well as to LUMC’s theme Cancer.

Ambassador: Danielle Cohen

Clinical Genetics

In the subtheme clinical genetics we strive to improve our counseling and diagnostic testing for the thousands of patients with rare diseases we see every year. We continuously look for new and better technologies to find causative mutations in established and new disease genes, and improve interpretation for example by data sharing and establishment of episignatures. In the LUMC we focus on several key genetic disorders for which we collect high-quality and often longitudinal data. We use this data to (1) assess the risk for disease development and thus optimize screening programmes, (2) establish genotype-phenotype correlations which improves the information we can give our patients; and (3) prepare for future clinical trials.

Ambassador: Gijs Santen

Functional Genomics

Despite today’s relative ease to identify (epi)genetic alterations in patients, their functional relationships to disease often remain unclear. In our subtheme functional genomics, we are committed to understand and predict the phenotypical consequences of disease-related genetic alterations. We approach this goal by mimicking the genetic alterations in models ranging from cell lines to patient-derived organoids and animal models. In these systems, we perform genome-wide functional screens, study -omics alterations and use dedicated molecular biology tools to understand the functional consequences of the alterations. For our innovative research, we benefit from the state-of-the-art research infrastructure and the expertise of the technology focus areas within the LUMC. The results of our studies will have important implications for the fundamental understanding of molecular and cellular processes and will have clinical relevance for improving diagnosis and treatment of a multitude of diseases in a future of personalized medicine.

Ambassador: Sylvie Noordermeer

Epigenomics

While almost every cell in our body has the same genetic information, they can be phenotypically very different. Indeed, each cell selectively uses relevant genetic information through the epigenetic patterning of its genome. This epigenetic patterning by DNA methylation, by histone use and distribution, and by histone modifications, is developmentally regulated, can be mitotically transmitted and contributes to the regulation of gene expression. It is therefore not surprising that errors in the human epigenome can lead to cellular dysfunction and disease. Within the subtheme Epigenomics we study epigenetic processes in health and disease using state-of-the-art (single cell) technologies in patient cells and model cell systems, iPSC-derived organoids and in animal models to identify, diagnose and understand the epigenetic underpinnings of development and disease. Since epigenetic states are dynamic and responsive to environmental influences, intervention studies are part of our program in an effort to target epigenetic mechanisms of disease.

Ambassador: Silvère van der Maarel

Population Genomics

Medicine will progressively change from a reactive to a proactive discipline. Population genomics is vital to this transformation by developing the omics-based tools that will enable personalized prevention and early intervention in daily clinical practice. To achieve this goal, we harness state-of-the-art technologies to acquire genomics and other large-scale omics data in complementary population studies, often by collaborating in national and international consortia. Moreover, we apply the full range of data science methods to discover how the interplay between intrinsic biological processes, modifiable lifestyle factors and other environmental exposures shape health across the life course. This will result in biomarkers that can detect excess disease risk of an individual at an early stage and pinpoint the specific disease processes involved to guide precise interventions.

Ambassador: Bas Heijmans 

For businesses

Research groups collaborating in the Medical Genomics themes for innovation have a strong track-record of producing tangible output in public-private partnerships. Please, reach out so that we can link you to one of our top researchers with the right expertise to answer question.

For PhDs and Postdocs

Medical Genomics provides a vibrant, multidisciplinary environment with state-of-the-art facilities to maximally capitalise on your potential and, not to forget, to enjoy doing science with international colleagues. We provide a range of activities tailored to young researchers, including advanced courses in our graduate school, and ample opportunities to interact with fellow researchers by presenting your data followed by drinks. We are also keen to support national and international early-career researchers to obtain grants and perform their innovative research at the LUMC.

Information on mandatory, highly recommended and other relevant but not mandatory courses are presented here. You can browse through all the known courses. You can filter for courses relevant for the 10 LUMC Research Themes, and you can also search using keywords. Information such as the number of study credits (EC), the course duration, study year, website and background information are provided when known. Feedback on missing courses, incorrect or outdated information is welcome.

A selection of courses specifically tailored for Medical Genomics can be found here.

For Students

Students interested in an internship within Medical Genomics can contact the various departments involved in the theme. If you apply for an internship, it is important that you provide a CV and that you demonstrate interest towards a specific research topic and research group. Given the number of requests, generic applications may remain without response.