Hannes Steinkellner, PD Dr. rer. nat.
Principal InvestigatorTel.: +43 (0)1 40160-56534
E-Mail: hannes.steinkellner@meduniwien.ac.at
ORCID, ResearchGate
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.
Pamela Lahner
InternshipTel.: +43 (0)1 40160-56542
Former Members of Steinkellner / Laccone Lab
- Master/Diploma Students: Teresa Seipel, Claudia Sulek, Alexander Jade-Weiss, Melanie Olczykowski, Mara Kluge, Philip Mausberg, Fabian Huber, Katrin Rose, Neli Bounzina, Alexander Reitner, Zsofia Kormanyos, Azra Kurtovic, Anna Schönegger, Laura Gogoll, Pina Kehrer
- PhD Students: Anna Huber, Julia Etzler
- Bachelor Students: Pamela Lahner, Sofia Geislberger
- The Ludwig Boltzmann Institute of Osteology (LBIO)
Thomas Dechat, PhD
Markus Hartmann, Priv. Doz. Dr.
Stéphane Blouin, PhD - Austrian Institute of Technology (AIT), Center for Health & Bioresources
Winfried Neuhaus, Prof. DI Dr.
Andreas Brachner, Mag. Dr. - Martin-Luther-Universität Halle-Wittenberg
Matthias Jung, Dr. - Medical University of Vienna, Center of Brain Research
Sigismund Huck, Prof.
Petra Scholze, Assoc.Prof. - Centre for Brain Research - the University of Auckland
Bronwen Connor, Prof.
- Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations. Sarne V, Huber A, Beribisky AV, Hengstschläger M, Laccone F, Steinkellner H. Sci Rep. 2025
- MeCP2 is a naturally supercharged protein with cell membrane transduction capabilities. Beribisky AV, Huber A, Sarne V, Spittler A, Sukhbaatar N, Seipel T, Laccone F, Steinkellner H. Protein Sci. 2024
- TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome. Steinkellner H, Kempaiah P, Beribisky AV, Pferschy S, Etzler J, Huber A, Sarne V, Neuhaus W, Kuttke M, Bauer J, Arunachalam JP, Christodoulou J, Dressel R, Mildner A, Prinz M, Laccone F. Int J Biol Macromol. 2022
- An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants. Steinkellner H, Schönegger A, Etzler J, Kempaiah P, Huber A, Hahn K, Rose K, Duerr M, Christodoulou J, Beribisky AV, Neuhaus W, Laccone F. Sci Rep. 2019
- Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Eur J Hum Genet. 2015