Institute of Hereditary Metabolic Diseases
Overview for Patients and Parents
The limited quality of life and high suffering of affected patients and parents are at the forefront of our research activities at the Institute. We actively engage in various projects, especially in the area of lysosomal storage diseases, for patient-centered solutions to therapy optimization and early diagnosis.
Our overarching goal is to achieve a significant improvement in the treatability of inborn metabolic diseases – so that despite already approved therapies (e.g., enzyme replacement therapy, hematopoietic stem cell transplantation), unmet medical needs are significantly minimized.
Furthermore, we strive to deliver new, innovative diagnostic solutions. As newborn screening for lysosomal storage diseases, except for a few pilot projects, has not yet firmly arrived in Europe, we are developing an instrument to facilitate the diagnostic process in clinical routine. In all our projects, patient safety is always at the forefront. We work closely with international experts to find the best solutions.