Huntington’s disease (HD) is a progressive neurodegenerative disorder, which is clinically characterized by motor dysfunction, cognitive impairments and psychiatric disturbances. The disease is caused by an expanded CAG repeat of variable length in exon 1 of the gene encoding the protein huntingtin (htt). The primary neuropathological hallmark of the disease is atrophy and neuronal loss in the striatum, but neurodegeneration is also seen in other parts of the basal ganglia, as well as in the cerebral cortex, thalamus, subthalamic nucleus, hypothalamus, hippocampus, and cerebellum. The striatum receives glutamatergic cortical inputs from the entire cerebral cortex in a topographic manner, with an organization of the cortical inputs from limbic to associative to sensorimotor following a mediolateral axis. Cognitive decline and psychiatric disorders precede motor symptoms. Whether this is related to differential neuronal dysfunction depending upon cortical afferents is not known. Also it is possible that some of the features of HD are due to pathology outside the striatum such as the hypothalamus, which is a region known to be involved in the regulation of sleep, metabolism and emotion. For example it has been shown with lesion experiments in the hypothalamus of rats that weight loss could be attributed to hypothalamic function. There is no cure for HD, and basic research is needed to characterize the biological systems involved in the disease process and identify possible targets for treatment.

SWITCH-HD is in a unique position. It brings together two partners from different sectors and with different focus which very nicely complement the expertise of the other partner. Both have collected unique cohorts and data sets yet and have the infrastructure in place to use knowledge that will be transferred from one partner to the other.

QPS Austria is a full-service contract research organization (CRO). The company performs preclinical as well as clinical research in the field of neurodegenerative illnesses. By building on extensive expertise in developing new investigative methods and potential drug targets and investing in exclusive licenses in order to obtain additional knowledge, QPS has maintained and kept a unique knowledge and IP position in the field of neurodegenerative diseases. During the course of the company’s development, knowledge in additional indications was built. Beyond several disease models developed in house, QPS holds an exclusive license for the use of animal models relevant for the testing of efficacy of different substances, which might be beneficial for therapy of CNS diseases.

The Institute of Medical Genetics and Applied Genomics is among the largest institute of medical genetics in Germany and comprises three basic sections: clinical genetics, cytogenetic and molecular diagnostics and research. A wide range of different transgenic and/or knock out models for Huntington’s disease, Parkinson’s disease, dystonias and spinocerebellar ataxias have been created in recent years.

The Huntington’s Disease research group at the Institute of Medical Genetics and Applied Genomics has generated and characterised transgenic rat models of Huntington’s Disease. Numerous groups, both academic and industrial, are using these rat models for their studies. The group has performed preclinical trials using the fragment HD rat model and BACHD rats for several industrial partners.