Elisabeth Luisa Germer, Joanne Trinh, Sophie Imhoff

Integrative omics in Parkinson disease

Joanne Trinh, PhD

Team: Joanne Trinh, PhD (Group leader); Sophie Imhoff (MD student); Elisabeth Luisa Germer (MD student)

The team’s main interest is the identification of novel causal genes and genetic risk factors using family studies and association with integrative large-scale omics approaches.

Novel genes implicated in Parkinson's disease (PD) and disease-associated pathways
In an effort to improve understanding of PD and impact of patient care, we initiated an early onset PD study to identify novel genes and cellular pathways associated with this disease. Exome sequencing will be used to identify novel candidate PD genes in inherited (familial) forms and in patients with sporadic PD. 

Genetic modifiers of monogenic forms of Parkinson's disease
Our interest lies in finding genetic modifiers that explain the clinical variability of LRRK2, Parkin and PINK1 forms of PD. Our laboratory will use a series of integrative omics approaches (genome/exome sequencing, deep mitochondrial sequencing, RNA sequencing and epigenetic markers) to further elucidate genetic modifiers or disease.  The identification of functional pathogenic variants may also direct prevention strategies and nominate molecular targets for individualized disease-modifying therapies.

The role of the extranuclear DNA genome of the mitochondrion
We use deep sequencing of the mtDNA to elucidate the role of mtDNA integrity in monogenic PD (Parkin, PINK1) and idiopathic PD, in-vitro models of PD (IPSC-derived neurons) and other parkinsonism-related syndromes such as POLG and Twinkle pathogenic mutation carriers.

We value and acknowledge scientific collaborations from Prof. Dr. Matthew Farrer, Prof. Dr. Anne Gruenewald, Prof. Dr. Andrew Hicks, Prof. Dr. Peter Pramstaller