Research and clinical collaborations
We frequently start from a patient sample to identify the genetic cause of the patients’ disease. We further aim to understand the pathogenic mechanism underlying the disease and develop therapies to treat the patients’ conditions. The ultimate goal is to help patients and families to better understand their disease and find effective treatment options.
In order to help families and patients, we analyze their family pedigree and perform genetic testing for disease-associated or novel candidate genes. Only a blood sample (EDTA) is required for these analyses. Frequently, Next Generation sequencing is performed to identify the disease-associated gene. We verify our genetic findings in cell culture and make use of patient-derived fibroblasts (from a skin biopsy as little as a pinhead). This assists in establishing a clinical diagnosis and helps in the genetic counseling of patients and families. Starting from the gained knowledge and a deeper understanding of pathological processes, we develop and optimize approaches to treat diseases.