Rare diseases are a heterogeneous group of diseases, affecting 5% of the population. Of these, around 80% have a genetic origin. Many individuals with rare diseases remain undiagnosed or receive an accurate diagnosis only after years of delay. Our research focuses on rare genetic diseases, particularly those associated with intellectual disability and hereditary visual impairment. Our aim is to identify novel genes and genetic defects in patients whose rare diseases have remained undiagnosed in clinical settings, enabling accurate diagnosis, genetic counseling, and appropriate treatment. We investigate the clinical characteristics and natural history of rare diseases to better predict disease progression and guide surveillance and therapeutic strategies. We also aim to elucidate the biological mechanisms underlying these conditions, providing insights into their pathophysiology and facilitating the development of targeted therapies.

2025

2029