Rare Disease Research and Therapeutics Development

Maja Stojiljković, PhD, is a Full Research Professor, Head of the Department of Human Molecular Genetics and Genomics, and Head of the Rare Disease Research and Therapeutics Development Group at the IMGGE.

Her research focuses on the genetics of rare diseases, with a particular emphasis on inborn errors of metabolism. Her current work is centered on the application of whole-genome sequencing (short-read and long-read WGS) and whole-transcriptome sequencing (RNA-seq) to investigate the molecular basis of rare diseases, with the aim of enabling diagnosis in patients who remain undiagnosed after whole-exome sequencing (WES). She has a particular interest in non-coding regions of the genome and their functional characterization. In addition, she conducts research to identify modifier genes that may contribute to a better understanding of genotype–phenotype correlations in rare diseases. Within her research group, cellular models of rare diseases are being developed, along with studies of the therapeutic potential of small molecules. The results of her research have been published in more than 60 scientific papers (h-index 20). Maja Stojiljković is the author of the VUS Notificator application and a co-inventor of one national patent.

She is currently the coordinator of the Horizon Europe project BRIDGING-RD (2024–2027), the coordinator of the national project GlucoAdjust (2024–2026), and a partner in two additional Horizon Europe projects: BETTER (2023–2027) and ERDERA (2024–2031). She is also a co-coordinator of the postgraduate course “Genes and Human Diseases” at the Faculty of Biology, University of Belgrade.

Dr Stojiljković is recognized in Serbia and internationally as an expert dedicated to rare diseases. She has been a member of the National Expert Committee for Genetics since 2024, the coordinator of the Serbian ORPHANET team since 2022, and a member of the Expert Board of the National Organization for Rare Diseases of Serbia since 2010.