Monogenic - Portal Development Working Group

The Portal Development group is one of the three working groups making up the Monogenic Network. This working group is tasked with the creation and running of the Monogenic Portal.

The Monogenic Portal aims to be a user-friendly web-based interface, through which clinicians and researchers around the world can contribute data and samples from families with Parkinson’s disease (PD), as well as single cases suspected to have a monogenic (Mendelian) cause for their PD. The portal will also be used to obtain the results of genetics studies of their patients, as well as anonymized global/aggregated data from other GP2 participating centers.

Working Group
Enza Maria Valente, MD, PhD
Biography
Lead, Monogenic Portal Development

Enza Maria Valente, MD, PhD

University of Pavia | Italy
Shen-Yang Lim, MBBS, MD, FRACP, FASc
Biography
Co-lead, Mongenic Portal Development & Underrepresented Populations East Asia

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

University of Malaya | Malaysia
Milestones
Progress so far
  • Drafted monogenic portal structure
  • Drafted monogenic sample workflow
  • Developed the electronic case report form (eCRF) for monogenic patients
  • Developed a novel procedure for faster upload of bulk data from large cohorts onto the Monogenic Portal
  • Upgraded the Portal Admin Tool to enable better workflow for data analysis
Remaining Year 3 Goals
  • Integrate functional monogenic portal on website
  • Improve progress monitoring and results retrieval from the monogenic portal

Contact Us

Please contact us if you would like to be involved or have any questions at [email protected]