Chemotherapy resistances in human retinoblastoma: molecular mechanisms and development of new therapeutic approaches

Retinoblastoma (RB) is the most common intraocular tumor of childhood. Treatment of retinoblastoma leads to considerable visual impairments or complete loss of vision and is linked to an increased risk for secondary cancers and development of chemotherapy resistant cells. The aim of our project is the development of adjuvant and new strategies in RB treatment in order to diminish side effects and concomitantly preserve the vision of the patients.

Defining clinical and neurophysiological markers of effective deep brain stimulation treatment in dystonia

A combined brain stimulation technique of electrical stimulation of basal ganglia structures through a deep brain stimulator (DBS) and transcranial magnetic stimulation of brain surface areas that control movement preparation and execution will be applied to X-linked dystonia Parkinson (XDP) patients. This approach allows drawing direct conclusions about the interaction of those brain motor regions and their contribution to the dystonic symptoms.

Renal impairment as a complication of systemic diseases

The EKFK NAKSYS is an interdisciplinary research center focusing on renal impairment as a complication of systemic diseases (such as diabetes or hepatitis C). With innovative research methods from seven clinics and institutes of the University Hospital of Freiburg, new insights into the formation and development of renal dysfunction are to be gained and combined with a comprehensive career concept.

Mechanism of small fiber pathology in fibromyalgia syndrome

Fibromyalgia syndrome (FMS) is associated with chronic widespread pain. The reason for pain in FMS is unknown. We have shown that the so called small nerve fibers are impaired in subgroups of patients with FMS. Small nerve fibers are responsible for the conduction of pain. In our current project, we are investigating the extent and pattern of small nerve fiber damage in a large group of FMS patients compared to healthy controls. Our aim is to identify signatures and patterns that can be used to diagnose FMS patients and to find novel targets for analgesic against pain in FMS.

Investigation of patho-mechanisms of zinc deficiency as risk factor for Autism Spectrum Disorders

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders characterized by their behavioral core features, impairment in social communication and social interactions, and restricted, repetitive and stereotyped patterns. Due to heterogeneity, autism has been termed a spectrum disorder. Although genetic mutations play a major role a causative factor in ASD, several environmental risk factors during pregnancy have been associated with the development of autism in children.

Light in - Sound out. New non-invasive biomarkers in pediatrics

Restricted diagnostic and therapeutic possibilities in chronically progressive hereditary diseases often result in a significantly reduced life expectancy of these young patients. New gene therapy approaches for Duchenne type muscle disease offer great hope, but no diagnostic methods are yet available to measure possible changes or response. Multispectral optoacoustic tomography (MSOT), a light- and sound-based imaging technology, could make it possible to detect molecular changes within a few seconds.

Investigating immunoproteasome inhibition

A new therapeutic approach to prevent chronic antibody-mediated rejection of renal allografts: Within ten years after transplantation approximately half of renal transplants are lost on average by chronic, antibody-mediated graft rejection. In this project we could show in rats that the inhibition of the immunoproteasome prevents the chronic rejection of transplanted kidneys. Plasma cells, which produce the allo-antibodies directed against the transplanted kidneys, were killed by inhibition of the immunoproteasome.

Innovative gene therapy concepts for Mendelian Susceptibility to Mycobacterial Disease (MSMD)

The human immune system is equipped with a variety of different blood cells to fight a multitude of pathogens each day. Mutations in the genome can cause phagocytes like macrophages to become non-functional and these cells then fail to clear pathogens like mycobacteria. This is the case for the disease MSMD, in which patients suffer from severe and sometimes lethal mycobacterial infections. The funded project tries to develop novel therapy options for these patients.