Confirmation that Defective POLR1A Protein Results in Neurodegeneration
Prof. Dr. Aslı Tolun at İTÜ MOBGAM is working on the identification of new disease genes. The first gene discovery is related to pulmonary alveolar microlithiasis, which is also the first gene discovery study completely conducted in our country. Another identified gene is responsible for childhood Parkinson disease (PARK19A). Later over 20 other inherited disease genes or new phenotypes or inheritance patterns for known diseases have been discovered. Dr Tolun is a member of the Europe Molecular Biology Organization (EMBO).