The Translational Genetics and Genomics Research laboratory combines genetic, computational and molecular biology methods to study rare Mendelian diseases from various medical disciplines. We investigate the pathophysiological mechanisms underlying these syndromes. Over the years, we uncovered numerous novel human disease-causing genes using next generation sequencing, which serve as a first step to better understanding human physiology in health and disease, followed by potential application of this knowledge to implement precision medicine and tailored treatments. Our discoveries provided personalized genetic counseling for families with rare genetic disorders and paved the way to tailored medical treatment for some of the patients, which became the treatment of choice for similar patients worldwide. Our research is patient-driven with the aim of continued implementation of personalized medicine and disease prevention.