Clinical cohorts
Participating teams focus their research on inherited disorders of kidney, eyes, heart, brain and liver, including inherited metabolic diseases and study the impact of rare genetic variants on the phenotype of diseases with a complex inheritance pattern. An important source of our success involves close collaboration over many years with clinical teams as well as patients. This provides us the optimal setting for obtaining a genetic diagnosis through direct acquisition of patient samples and in turn translation of our results back to the patients. Each team and their collaborators jointly utilize data and materials from unique, well characterized cohorts of patients with the diseases of interest that have been studied for many years.
Major clinical partners include Departments of the First Faculty of Medicine, Charles University and General Faculty Hospital in Prague (Pediatrics and Adolescent Medicine, Ophthalmology, Nephrology, Neurology, Psychiatry), Departments of the Institute of Clinical and Experimental Medicine (Cardiology and Nephrology), Section of Nephrology, Wake Forest School of Medicine and Broad Institute of Harvard Medical School (inherited kidney diseases) and UCL Institute of Ophthalmology (inherited eye diseases).