Data Generation Working Group

The Data Generation Working Group onboards and follows up on monogenic cohorts, i.e., familial and early-onset Parkinson’s disease patients with and without known monogenic causes, aiming to uncover new genes and/ genotype-phenotype correlations.

About the Data Generation Working Group

The Data Generation Working Group has the responsibility to onboard new monogenic cohorts and follow-up on all participating cohorts over the course of the project. The group coordinates the collection and harmonization of cross-sectional and longitudinal clinical data on familial and early-onset PD patients with and without known monogenic causes, with the aim of uncovering novel and/or important genotype-phenotype correlations.

The Group collaborates closely with:

the Monogenic Data Analysis Working Group to expand recruitment and clinical data collection, particularly in families with novel candidate genes or relevant genetic findings. The aim of this is to better define the phenotypic spectrum of known and novel forms of monogenic PD and establish meaningful genotype-phenotype correlations.

the Complex Disease Network to harmonize data dictionaries and data collection protocols. The aim is to collect and harmonize clinical data in a comparable and usable format.

Meet the leads & co-leads

Co-Lead

Enza Maria Valente, MD, PhD

University of Pavia, IRCCS Mondino Foundation | Milano, Italy

Co-Lead

Christine Klein, MD

University of Luebeck | Germany

Co-Lead

Soraya Bardien, PhD

Stellenbosch University | Cape Town, South Africa

Co-Lead

Ai Huey Tan, MD, PhD

University of Malaya | Kuala Lumpur, Malaysia

Co-Lead

Kishore Kumar, PhD

Garvan Institute of Medical Research and Concord Repatriation General Hospital | Australia

Co-Lead

Niccolò Emanuele Mencacci, MD, PhD

Northwestern University, Northwestern University | Chicago, IL, USA

Co-Lead

Ignacio (Nacho) F. Mata, PhD

Cleveland Clinic, Case Western Reserve University | Cleveland, OH, USA

Meet the participants

Member

Micol Avenali, MD, PhD

University of Pavia, Fondazione Istituto Neurologico Nazionale Casimiro Mondino | Pavia, Italy

Member

Alexander Balck, MD

University of Lübeck | Germany

Member

Caterina Galandra, PhD

IRCCS Mondino Foundation

Member

Lara Lange, MD

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

Member

Melina Ellis

Concord Hospital | Australia

Member

Shen-Yang Lim

University of Malaya | Malaysia

Member

Laura Rudaks, MBBS

University of Sydney, Concord Repatriation General Hospital, Garvan Institute of Medical Research | Sydney, Australia

Member

Yi Wen Tay

University of Malaya | Malaysia

Member

Tzi Shin Toh

Unknown, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia | Malaysia

Member

Dennis Yeow, BSc,MBBS

NeuRA | Sydney, Australia

Member

Ignacio Juan Keller Sarmiento, MD

Northwestern University | USA

Milestones

Completed

Developed the electronic case report form (eCRF) for monogenic patients
Developed an online portal to manage the monogenic cases database, accessible by both administrators and investigators
Developed an Excel sheet with a data dictionary for bulk upload of clinical data onto the monogenic portal
Development of the core and extended clinical dataset within GP2 in close collaboration with the Complex Disease Network

Active

Continuous review of clinical data submissions to the monogenic portal and enhancement of the data collection/submission workflow
Recruitment of families and trios with PD as well as PD cases with an early onset of the disease
Collection of detailed clinical data on all submitted samples and detailed pedigree structure of submitted PD families
Development of a merged database including all data on known monogenic PD within GP2, the MJFF Monogenic PD Cohort programs, and the published literature via MDSGene (www.mdsgene.org).

Not Started

Integrate sample and result update notifications to GP2 contributors (in collaboration with the Monogenic Data Analysis Working Group)