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Monogenic – Data Analysis Working Group

The Data Analysis working group carries out core analyses to identify the genetic basis of monogenic forms of Parkinson’s disease.

About the Monogenic – Data Analysis Working Group

This Working Group executes and coordinates core genetic analyses to identify the genetic basis of monogenic forms of Parkinson’s disease in close collaboration with the sample providers.

This group analyzes genotyping and whole-genome sequencing data obtained from the collected samples and families in close collaboration with the sample providers in order to identify known and novel monogenic causes of the disease. They also aim to develop population specific reference genomes that will improve the detection of population-specific risk factors.

Meet the leads & co-leads

Lead

Zih-Hua Fang, PhD

German Center for Neurodegenerative Diseases | Zürich, Switzerland

Co-Lead

Lara Lange, MD

University of Lübeck and University Medical Center Schleswig-Holstein | Bethesda, MD, USA

Meet the participants

Member

Ignacio Juan Keller Sarmiento, MD

Northwestern University | USA

Member

Niccolò Emanuele Mencacci, MD, PhD

Northwestern University, Northwestern University | Chicago, IL, USA

Member

Katja Lohmann, PhD

University of Luebeck | Germany

Member

Azlina Ahmad-Annuar

University of Malaya | Malaysia

Member

Ana Westenberger, PhD

University of Lübeck | Lübeck, Germany

Member

Joanne Trinh, PhD

University of Lübeck | Luebeck, Germany

Member

Carlos Felipe Hernandez Astudillo, PhD

Universidad del Desarrollo | Santiago, Chile

Member

Paola Dimartino, PhD

University of Pavia, unknown | Pavia, Italy

Member

Carolin Gabbert, PhD

the University of Lübeck | Lübeck, Germany

Milestones

Completed

  • The bioinformatic workflow for identifying known and novel repeat expansions
  • The bioinformatic workflow for structural variant joint calling

Active

  • Analysis strategies for monogenic data
  • The family-based whole-genome data analysis workflows
  • Rare-variant association analyses (coding and non-coding variants)
  • Long-read whole genome sequencing for unsolved early-onset patients and patients with a positive family history
  • Analysis of expanded panel of genes linked to monogenic parkinsonism
  • Interaction of mitochondrial genes, mitochondrial DNA and environment on age at onset in Parkinson’s disease