Stefanida Shliaga

As a physician trained in laboratory medicine, I began my career at the Diagnostic Medical Centre for Genetic Diseases in Saint Petersburg, Russia. There, I contributed to performing and analyzing a wide spectrum of diagnostic methods, with a particular focus on molecular genetics and high throughput sequencing analysis. This experience fostered my motivation to gain deeper knowledge in molecular science, leading me to pursue a Master’s degree in Molecular Medicine at the University of Tübingen, Germany.

During my Master’s studies, I gained valuable experience analyzing whole exome and whole genome sequencing-derived data through a lab rotation at the Bioinformatics department (Research Group of Genome Biology of Neurodegenerative Diseases, DZNE, Germany) and part-time work in the Translational Oncology research group (University Hospital of Tübingen). For my Master’s project, I performed pre-clinical validation of ED-CRISPR-Cas9 genome editing targeting USH2A gene to correct missplicing induced by c.7595-2144A>G deep-intronic variant (research group of Molecular Genetics within the Institute for Ophthalmic research, Tübingen, Germany). This common pathogenic variant leads to the clinical manifestation of Usher syndrome, and developing a strategy for its permanent correction at the genome level could potentially prevent severe clinical phenotypes related to combined visual and hearing loss.
Before starting my PhD, I worked as a scientific coordinator for the European branch of the Severe Chronic Neutropenia International Registry (SCNIR) at the Hannover Medical School, Germany. I am excited to return to the field of ophthalmic research by beginning my doctoral project and further explore functional genomics of inherited retinal diseases.

Single-molecule multi-omics framework for adIRD diagnosis

In this project, the PhD student (DC6) will investigate the use of long read technologies to resolve the currently unexplained adIRD families. Using optical genome mapping and long-read whole genome sequencing negative from currently ongoing panel based targeted sequencing using smMIPs or whole genome sequencing efforts. Known in silico prediction tools as well as new tools will be used to prioritize for variants of interest. Moreover, DC6 aims to assess known and novel putative splice affecting variants through midigene splice assays and complemented with long-read RNA sequencing methods for their pathogenicity to allow increasing of the classification from Variants of Unknown Significance to pathogenic. Next, the effect of structural variant findings will be studied through Low-C in patient derived PPCs. Lessons learned from either pathogenic or benign SNVs and SVs and the utility of the long read approaches will be implemented into a framework that allows for improved genetic diagnosis in the IRD community as well as the non-IRD community.