Genetic diseases of the central nervous system

In our genetics clinic, we see a large variety of patients with rare diseases, with a focus on neurodevelopmental and neurodegenerative disorders. We study the mutations in our patients in combination with their phenotypes in order to understand gene function in humans. We also use reprogramming of patients’ cells and differentiate induced pluripotent stem cells into neural precursor cells, neurons and cerebral organoids to study gene function and the mechanisms of disease. We put a particular emphasis on understanding the molecular mechanisms underlying variability of clinical phenotypes. Mouse models and analysis in patient cohorts complete our methodological repertoire. With all these attempts, we aim to develop experimental therapies for patients with rare disorders such as Huntington's disease or Birk-Barel Syndrome.

Research website

Positions held

  • Since 2022: Adjunct Clinician, Institute of Molecular Biology (IMB), Mainz
  • Since 2020: Group Leader, Leibniz Institute for Resilience Research (LIR), Mainz
  • Since 2012: Director, Institute of Human Genetics, University Medical Center (UMC), Mainz
  • 2007 – 2012: Professor for Molecular Medicine, Dundee Medical School
  • 2010 – 2012: Vice Chair, Wellcome Trust Center for Molecular Medicine, Dundee
  • 2005 – 2010: Lichtenberg Professor, Charité-Berlin
  • 2001 – 2005: Group Leader, MPI for Molecular Medicine, Berlin


  • 2006: Board Certificate in Human Genetics, Charité-Berlin
  • 1993: MD in Biochemistry, University Freiburg
  • 1992: MD in Biochemistry, University of Freiburg
  • 1989: Medical, University Innsbruck
  • 1993: Medical School, University of Freiburg

Selected publications by Susann Schweiger

Cooper A, Butto T*, Hammer N*, Jagannath S, Fend-Guella DL, Akhtar J, Radyushkin K, Lesage F, Winter J, Strand S, Roeper J, Zechner U# and Schweiger S# (2020) Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndromeNat Commun, 11:480 Link

Arnoux I*, Willam M*, Griesche N*, Krummeich J, Watari H, Offermann N, Weber S, Narayan Dey P, Chen C, Monteiro O, Buettner S, Meyer K, Bano D, Radyushkin K, Langston R, Lambert JJ, Wanker E, Methner A, Krauss S#, Schweiger S# and Stroh A# (2018) Metformin reverses early cortical network dysfunction and behavior changes in Huntington's diseaseeLife, 7:e38744 Link

Deciphering Developmental Disorders Study (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542:433–438 Link