Steinkellner Lab

Molecular Genetics and Functional Genomics of Rare Diseases

The main research focus of the Steinkellner Lab is Molecular Genetics and Functional Genomics of Rare Diseases, with a particular emphasis on the identification and characterization of disease-associated genes and genetic variants, the investigation of underlying molecular mechanisms, and the development of innovative therapeutic approaches.

A major area of research focuses on Rett syndrome and MECP2, including the development and investigation of TAT (transactivator of transcription) fusion proteins as a protein replacement strategy. This approach is based on linking the TAT transduction domain to a protein of interest, enabling its delivery into mammalian cells and tissues. TAT fusion proteins are produced using bacterial expression systems, purified under soluble or denaturing conditions, and subsequently investigated in cellular and in vivo models.

In parallel, the Steinkellner Lab investigates novel candidate genes and potentially pathogenic genetic variants associated with rare diseases. By combining molecular genetic analyses with functional studies, the group aims to determine the biological consequences of previously uncharacterized variants, establish genotype–phenotype relationships, and elucidate disease mechanisms.

Together, these research activities span the spectrum from gene and variant discovery to functional characterization and the exploration of molecular therapeutic strategies, with the overarching goal of improving our understanding of the molecular basis of rare diseases.