Monogenic Hub

The Monogenic Hub aims to identify novel genetic causes of apparently monogenic Parkinson’s disease (PD) – forms of PD where pathogenic variants in a single PD-linked gene are considered causative of the disease. The Monogenic Hub is comprised of the groups Sample Prioritization, Data Analysis, and Portal Development.

Leveraging GP2’s global network of researchers contributing patient samples, the Monogenic Hub will collect thousands of patients and relatives from families in whom a monogenic cause is suspected. Emphasis will be placed on families from underrepresented populations. All currently known PD genes have been found in various populations around the globe, however, some occur at highly variable and population-specific frequencies. The most striking example being the G2019S mutation in the LRRK2 gene. In addition, it is conceivable that population-specific hereditary forms of PD may exist, as exemplified by X-linked dystonia-parkinsonism, a condition exclusively present in patients of Filipino ancestry.

The Monogenic Hub will collect families and singleton cases, as well as parent-offspring trios, through the Monogenic Portal. These will be prioritized by Sample Prioritization for whole-genome sequencing or long-read sequencing based on a number of different criteria, such as family history, availability of samples from several affected family members, age at onset and ethnicity. The Data Analysis group will analyze genome data for the presence of potentially novel pathogenic variants.

Working Group
Christine Klein, MD, FEAN
Biography
Lead Monogenic Disease and Sample Prioritization

Christine Klein, MD, FEAN

University of Luebeck | Germany
Peter Heutink, PhD
Biography
Lead Monogenic Data Analysis

Peter Heutink, PhD

German Center for Neurodegenerative Diseases | Germany
Katja Lohmann, PhD
Biography
Co-Lead Monogenic Disease

Katja Lohmann, PhD

University of Luebeck | Germany
Enza Maria Valente, MD, PhD
Biography
Lead Monogenic Portal

Enza Maria Valente, MD, PhD

University of Pavia | Italy
Niccolo Mencacci, MD, PhD
Biography
Co-Lead Monogenic Disease

Niccolo Mencacci, MD, PhD

Northwestern University | USA
Shen-Yang Lim, MBBS, MD, FRACP, FASc
Biography
Co-Lead Monogenic Portal and Underrepresented Populations East Asia

Shen-Yang Lim, MBBS, MD, FRACP, FASc

University of Malaya | Malaysia
Kishore Raj Kumar, MBBS, PhD, FRACP
Biography
Co-Lead Monogenic Sample Prioritization

Kishore Raj Kumar, MBBS, PhD, FRACP

University of Sydney | Australia
Milestones
Progress so far
  • Created Monogenic network 
  • Negotiated whole-genome sequencing (WGS) prices with vendors 
  • Piloted WGS 500 potential monogenic samples
Remaining Year 1 Goals
  • Final selection of monogenic samples
  • Continue to expand the network and involve more groups
  • Start to validate potential new variants identified via WGS (wet-lab)
  • Provide regular updates to sample submitters

Contact Us

Please contact us if you would like to be involved or have any questions: monogenic@gp2.org.