Dr Anita Skakić investigates the molecular mechanisms underlying rare metabolic, endocrine, and pulmonary diseases, with a particular focus on glycogen storage disease type Ib (GSD Ib). Her research integrates advanced methodological approaches, including the reprogramming of peripheral blood cells into induced pluripotent stem cells (iPSCs) and CRISPR/Cas9 genome editing (knock-in and knock-out strategies), to develop in vitro disease models and evaluate small molecules as potential therapeutic candidates.

Her work is particularly directed toward the pharmacological modulation of cellular stress, autophagy, and apoptosis as key mechanisms in the pathogenesis of GSD Ib. Her research activities include differentiation of iPSCs into hepatocyte-like cells and the use of various immortalized cell systems for functional and translational studies.

She is actively involved in the molecular diagnostics of rare diseases at the Center for Genetic Diagnosis of Rare Diseases at IMGGE, applying next-generation sequencing (NGS) technologies, including CES, WES, and WGS, with a focus on bioinformatic data processing and interpretation of genetic variants.

She is currently involved in several national and international research projects addressing rare diseases. She serves as a Work Package Leader in the GlucoAdjust project and is a member of the Management Committee of COST Action CA24124. Within this framework, she also acts as Co-Chair of the Young NEUTRO-NARPS Group.

She has supervised several Master’s theses and currently mentors two PhD candidates. She contributes to doctoral-level teaching as a lecturer and demonstrator, with a focus on CRISPR/Cas9 genome editing and its application in disease modeling.