Team: Ana Westenberger, PhD (group leader); Aloysius Domingo, MD (visiting scientist, PhD student); Karen Grütz, née Freimann, PhD (Postdoc); Heike Pawlack (research technologist); Thomas Schmidt (MD student); and Christoph Max (MD student)
The research team “Functional genetics of movement disorders” focuses on the identification and functional characterization of the structural and epigenetic DNA changes that lead to the development of various movement disorders. To achieve these goals, we combine linkage analysis with Sanger and next-generation sequencing and real-time quantitative PCR. The identification of DNA changes is followed by a series of molecular biology, cellular biology, and protein biochemistry assays. By this, we examine the consequences of the detected DNA changes on transcriptional regulation of gene expression and on protein translation levels, subcellular localization, stability, and functional interactions of the affected proteins. Finally, we aim to correlate our findings with the observed clinical phenotypes and hypothesize mechanism(s) of disease.
Importantly, together with other members of the ProtectMove consortium, we focus on identifying genetic and epigenetic factors that modify the penetrance and expressivity of various neurogenetic disorders.
Our current projects investigate the genetic basis of X-linked dystonia-parkinsonism (XDP), primary familial brain calcification (PFBC), ADCY5-related movement disorder, and other neurogenetic conditions.
In addition, we are intensively involved in development, data extraction, and curation of the MDSGene database.
We value and acknowledge scientific exchange and input from our international collaborators Prof. Dr. Henry L. Paulson (University of Michigan, USA), Prof. Dr. Lillian V. Lee and Prof. Dr. Raymond Rosales (XDP study group, Philippines), and Prof. Dr. Vladimir S. Kostic (University of Belgrade, Serbia).
Our projects are funded by the German Research Foundation, Fritz-Thyssen Foundation, and intramural grant support.