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 functional characterization of novel candidate genes and potentially pathogenic genetic variants associated with rare disorders. By integrating molecular genetic approaches with functional studies, the group aims to determine the biological consequences of previously uncharacterized variants, establish genotype–phenotype relationships, and elucidate the molecular mechanisms underlying disease.

A complementary area of research focuses on Rett syndrome and MECP2, serving as a model for investigating disease mechanisms and exploring molecular therapeutic strategies. Within this context, the lab develops and investigates TAT (transactivator of transcription) fusion proteins as a potential protein replacement approach. This strategy involves linking the TAT transduction domain to a protein of interest to facilitate its delivery into mammalian cells and tissues. TAT fusion proteins are produced using bacterial expression systems, purified under soluble or denaturing conditions, and subsequently evaluated in cellular and in vivo models.

Together, these research activities span the spectrum from the discovery and functional characterization of disease-associated genes and genetic variants to mechanistic studies and the exploration of targeted molecular therapeutic approaches. The overarching goal is to advance our understanding of the molecular basis of rare diseases and to translate insights from genetic and functional studies into potential therapeutic concepts.