Expected research outcomes
As we have done previously with conditions such as autosomal dominant tubulo-interstitial kidney diseases, inherited metabolic disorders, mitochondrial diseases, various genetic syndromes, cardiomyopathies, and eye diseases we will use advanced genomic and genetic techniques to identify genetic causes of various RDs. Such techniques have allowed us to identify > 20 novel genetic disorders in the past, and we currently have > 10 novel genetic disorders that we are further exploring. We will continue to build on a state of the art platform that we have developed over the last two decades that is comprehensive in its approach and literally encompasses all areas from bench to bedside. Students and young faculty work directly with experienced scientists on innovative projects addressing exciting, important questions in biomedicine. Through this process, we will identify new genetic causes of RDs, discover the pathophysiology of these conditions, identify biomarkers and genetic tests, and work to develop new treatments. At present, we are achieving significant success in the process of identifying the genetic cause of various disorders. We are performing studies of pathophysiology and developing new biomarkers for conditions where we identified the causative gene. We believe we will be successful in the development of new treatments, including working with the Broad Institute of Harvard Medical School to develop a treatment for MUC1 inherited kidney disease. Our history provides a good indication of what we will be able to accomplish in the future. We have worked with more than 3,000 families from over 25 countries, achieving a genetic diagnosis in > 500 families. We have developed numerous genetic tests that are currently directly helping patients. Our work has resulted in > 300 publications in journals such as Nature Genetics, Nature Communication, Cell Metabolism, American Journal of Human Genetics and the Journal of Clinical Investigation. We have received the Awards of the Minister of Health of the Czech Republic for scientific achievements (SK 4-times, JZ 3-times), Award of the Minister of Education, Youth and Sports (JZ; 2001), and the Gold medal of Charles University (JZ; 2015). Three junior researchers (AV, LN and MŽ) have been awarded the Bolzano prize. This work has been performed by > 60 postdoctoral students, PhD and undergraduate students, with many of them being directly or indirectly involved in this application. We are actively sharing our expertise and collaborating closely with a steadily increasing number of research partners within the Czech Republic and abroad, which will allow us to pursue biomedical research on a grandiose scale. Based on our experience, we believe that we will make many new important discoveries that will directly help patients with rare diseases in Czech Republic and abroad, and the findings that we make will provide insights into the diagnosis, pathophysiology and treatment of many common diseases as well. The research team is composed of experienced clinical and molecular geneticists, biochemists, bioinformaticians, clinicians,and pathologists who have worked closely together for many years and who have a history of significant success. One of the outcomes of our work has been the creation of the National Centre for Medical Genomics, which was included among Large Research Infrastructures supported by the Czech Ministry of Education, Youth and Sports. Research teams are jointly supported by institutional support of the Charles University (the PRVOUK and PROGRES programs), by the Charles University Research Center for Study of Rare Diseases (UNCE 204011), by the project of excellence of the Grant agency of Czech Republic - Centre of Mitochondrial Biology and Pathology and by > 20 extramural grants. Our center also has developed a specific university research project– Experimental Methods in Biomedicine – that supports 44 postgraduate and 9 pre-graduate students of Charles University.