Better understanding of genetic diseases – clinical application of genomic medicine
Our interprofessional team uses state-of-the-art genomic methods in combination with mechanistic studies in model systems to elucidate the molecular mechanisms of genetic diseases – with the final aim to develop targeted therapeutic approaches.
A focus of the laboratory is the clinical application of the latest technologies (e.g. long-read genome sequencing) and integrative analyses of omics data for improved detection and clinical interpretation of genomic alterations in rare and oncological diseases. Based on the groundwork laid in recent years, harmonized well-annotated genomic datasets (20,000 k exomes and 11,000 k genomes) are being used with mounting success for the unbiased statistical detection of variant-/gene-phenotype associations.
The group has an outstanding track record in the identification and comprehensive clinical and functional characterization of new disease genes (involved in > 65 discoveries), with a clinical focus on rare metabolic diseases, neurological and neuropediatric disorders.
Within the framework of national and international third-party funded projects, we contribute to the implementation of advanced data and health care concepts for improved management of patients with rare and oncological diseases (e.g. within the National Strategy for Genomic Medicine).
The group's excellent international network of clinical and research collaborators, as evidenced by numerous publications, as well as the fact that PD Dr. med. Haack heads the molecular diagnostics service, ensure that the latest scientific findings, technologies and methods are swiftly translated into routine diagnostics.
Our goal is to make these advantages available to all our patients to support the development of personalized therapies and preventive measures.
