Background: Rare genetic diseases often represent a major challenge because they are often poorly understood and there is a lack of specific treatment options.

Research goal: In close collaboration with AG Högler, we study previously unknown genetic mutations and characterise their effects on the cellular level as well as the course of the disease. Further, we use advanced technologies such as artificial intelligence, cell-based and 3D-based approaches to develop treatment strategies (Rare Disease Pipeline).

The aim is to gain new insights by decoding molecular mechanisms that will lead to the development of preclinical evaluation methods for potential therapeutic approaches.

Background: The terms "musculoskeletal system" or "locomotor system" refer to the functional unit composed of bones, joints, and muscles. Rare musculoskeletal diseases include, among others:

• Mineralization disorders such as hypophosphatasia and XLH
• Collagen synthesis disorders such as osteogenesis imperfecta
• Diseases with increased bone mass such as osteopetrosis or osteosclerosis
• Malformation syndromes such as dysplasias, short stature, and Marfan syndrome
• Muscular dystrophies such as Duchenne muscular dystrophy

These conditions are mostly genetic in origin. Current treatment approaches generally focus on the most affected organ, be it bones or muscles. However, genetic mutations often lead to multiple organs being affected to varying degrees. This results in a knowledge gap regarding comprehensive therapeutic approaches for these diseases.

Research goal: The aim is to investigate the interactions between different organs in the course of the disease and in the response to therapy, depending on age and gender. Particular focus is on the role of epigenetics and the complex interactions between bone-muscle metabolism and bone-microbiome metabolism. We continue to work on developing and optimizing new treatment strategies for these diseases. These include combination therapies, such as the combination of muscle mass stimulators with anti-bone resorptive therapies, as well as the development and refinement of autologous stem cell therapies and the application of optimized gene editing techniques for possible genetic correction.