SCREEN - Searching for molecular signatures of Mulvihill-Smith syndrome

Serbian Science and Diaspora Collaboration Program: Knowledge Exchange Vouchers, Science Fund of the Republic of Serbia, 6436164, 2020-2021
Principal Investigator: Dr Natasa Kovacevic Grujicic, IMGGE
Participant from IMGGE: Dr Danijela Drakulic

Mulvihill–Smith syndrome, is a rare and complex genetic disease of unknown cause that affects different systems and organs leading to a development of progeroid disorder. We have previously detected 15 genetic variants (mutations) in the patient with this syndrome. In this Project we aim to identify which of these mutation(s) are causing the pathogenic outcome in patient. We will develop new models that will allow us to further understand the molecular mechanisms of the disease.