Neurogenetics Lab | Medical University of Innsbruck

Research

Mechanisms of neurogenetic disease

Our group focuses on molecular and cellular mechanisms that shape neuronal vulnerability and resilience in neurogenetic and neurodegenerative disorders.

We use Drosophila models, human cell systems, microscopy, genome engineering, single-cell RNA sequencing and long-read whole-genome sequencing to connect disease variants with cellular phenotypes.

Team

People

Roman Praschberger

PI

Roman studied Medicine and Philosophy at the Medical and Leopold-Franzens University of Innsbruck. He obtained his PhD in Neuroscience at University College London under the supervision of James Jepson, Jim Rothman, Dimitri Kullmann and Henry Houlden uncovering at the biophysical, cellular and neuronal levels how rare mutations in the Golgi SNARE protein GOSR2 lead to a severe and selective neurological disorder. As an EMBO post-doctoral fellow and staff scientist in the laboratory of Patrik Verstreken at the VIB-KU Leuven Center for Neuroscience he established a new approach to uncover neuron-subtype-specific vulnerability and resilience mechanisms in response to neurodegeneration-causing toxic proteins by combining brain-wide single-cell sequencing with in vivo genetic modifier screens in Drosophila. In December 2023 he joined the Medical University of Innsbruck as a Tenure-Track PI in Neurogenetics as well as Medical Genetics resident.

Christopher Dunworth

TA

Julia Unterkalmsteiner

Clinical PhD student

Julia grew up in a small rural town in northern Italy. Early on she became interested in the natural sciences, which led her to attend a science-focused secondary school. She then moved to Innsbruck to study medicine at the Medical University of Innsbruck, developing a particular interest in human genetics. After graduating, she joined the Neurogenetics lab in December 2025 and conducted experiments with Drosophila melanogaster. She now pursues a clinical PhD on neuronal repeat expansion diseases, conducting research and improving diagnostic methods. She will undertake clinical training to qualify as a specialist in human genetics while continuing her research. Outside the lab, Julia enjoys photography, reading books, cooking, and going on long walks—preferably in the company of good friends.

Ida Weiss

MD student

Ida is a student currently pursuing a Bachelor’s degree in Microbiology and Genetics at the University of Vienna, while also studying Medicine at the Medical University of Innsbruck. In her bachelor’s thesis research project, she analyzed small fiber neuropathies at a molecular level, applying histological methods to further characterize the underlying pathology. As part of her medical diploma thesis, she is investigating neurological repeat expansion disorders.

Tobias Waltle

MD student

Open positions

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Publications

Niebrügge N, Trovato O, Praschberger R, Lieb A. (2025). Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations. Biomedicines 13. doi: 10.3390/biomedicines13010046
Decet M, Scott P, Kuenen S, Meftah D, Swerts J, Calatayud C, Gallego F, Kaempf N, Nachman E, Praschberger R, Schoovaerts N, Tang C, Eidelberg D, Al Adawi S, Al Asmi A, Nandhagopal R, Verstreken P. (2024). A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism. Cell Rep Med 5:101749. doi: 10.1016/j.xcrm.2024.101749
Kinnart I, Imberechts D, Praschberger R, Schoovaerts N, Verfaillie C, Verstreken P, Vandenberghe W. (2024). Elevated a-synuclein levels inhibit mitophagic flux. NPJ Parkinsons Dis 10:80. doi: 10.1038/s41531-024-00696-0
Praschberger R, Kuenen S, Schoovaerts N, Kampf N, Singh J, Janssens J, Swerts J, Nachman E, Calatayud C, Aerts S, Poovathingal S, Verstreken P. (2023). Neuronal identity defines α-synuclein and tau toxicity. Neuron 111, 1577-1590. doi: 10.1016/j.neuron.2023.02.033
Balusu S^*, Praschberger R^*, Lauwers E, De Strooper B, Verstreken P. (2023). Neurodegeneration cell per cell. Neuron 111, 767-786. ^*contributed equally. doi: 10.1016/j.neuron.2023.01.016
Praschberger R, Jacquemyn J, Verstreken P. (2021). Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy. Neuron 109:1-3. doi: 10.1016/j.neuron.2020.12.009
Jepson JEC, Praschberger R, Krishnakumar SS. (2019). Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. Neuroscience. doi: 10.1016/j.neuroscience.2019.03.057
Praschberger R, Lowe SA, Malintan NT, Giachello CNG, Patel N, Houlden H, Kullmann DM, Baines RA, Usowicz MM, Krishnakumar SS, Hodge JJL, Rothman JE, Jepson JEC. (2017). Mutations in Membrin/GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. Cell Rep 21, 97-109. doi: 10.1016/j.celrep.2017.09.004
Praschberger R, Balint B, Mencacci NE, Hersheson J, Rubio-Agusti I, Kullmann D, Bettencourt C, Bhatia K, Houlden H. (2015). Expanding the phenotype and genetic defects associated with the GOSR2 gene. Mov Disord Clin Pract 2, 271-273. doi: 10.1002/mdc3.12190
Praschberger R, Schranz M, Griffiths WJ, Baumgartner N, Hermann M, Lomas DJ, Pietrangelo A, Cox TM, Vogel W, Zoller H. (2014). Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor. Biochim Biophys Acta 1842: 1406-1412. doi: 10.1016/j.bbadis.2014.05.011

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Open positions

PhD Position

We are currently seeking a PhD student for a fully funded 4 year position. The project will either involve generation and analysis of single-cell RNA sequencing data from neurodegenerative disease models, or detailed mechanistic studies of neuronal cell biology in rare neurogenetic disorders, depending on the successful candidate's profile.

You would join a young team working on basic mechanisms of neurogenetic disease using Drosophila models, human cell systems, microscopy, single-cell RNAseq bioinformatics and genome engineering.

Requirements

A BSc+MSc degree in life sciences or a quantitative discipline such as computer science, or a medical degree, plus familiarity with the Linux command line and basic programming in Python and/or R, or experience with classical wet-lab techniques.

To apply, please send a motivation letter, CV and contact details of two referees to roman.praschberger@i-med.ac.at.

MSc Thesis Projects / MD Thesis Positions

We have MSc projects and MD diploma thesis projects available in neurogenetics and neurodegenerative disease research. Projects can be bioinformatics focused, including single-cell RNAseq or long-read whole-genome sequencing analysis, or experimental, using Drosophila and human cell models.

MD students are encouraged to reach out in the 3rd and 4th year. Please contact roman.praschberger@i-med.ac.at with a brief statement of motivation and a CV.

Contact

Get in touch

roman.praschberger@i-med.ac.at
Institute of Human Genetics
Medical University of Innsbruck
Peter-Mayr-Straße 1
6020 Innsbruck
Austria