1. Back to Working Groups

Translational Genetics Working Group

The TGWG will help to translate GP2 genetic discoveries into clinically relevant resources by integrating variant interpretation, biomarkers, and clinical data while coordinating activities across GP2 and with external collaborators.

About the Translational Genetics Working Group

The Translational Genetics Working Group (TGWG) operates at the interface of genetics, clinical research, biomarkers, and therapeutic translation, bridging genetic discoveries with clinical application. 

The TGWG brings together GP2 activities in variant curation and interpretation, biomarker integration, and precision medicine to ensure that genetic findings are consistently curated, ancestry-informed, and readily usable for research and translational applications. Key activities include integrating clinical trial data into GP2, developing and maintaining curated variant resources, supporting interpretation of disease-associated and risk variants, integrating trial-relevant biomarker data with genetic findings, supporting the identification and longitudinal follow-up of potentially clinical trial-eligible individuals, and facilitating approved gene- and variant-specific carrier look-ups and feasibility assessments for research and industry collaborations. Through these efforts, the TGWG aims to bridge genetic discovery with clinical application and support future translational research and therapeutic development.

Meet the leads & co-leads

Co-Lead

Lara Lange, MD

Laboratories of Neurogenetics, University of Lübeck | Bethesda, MD, USA

Co-Lead

Huw Morris, MD, PhD

University College London | London, UK

Meet the participants

Member

Nolia Lumley, MSc

University College London | London, UK

Member

Lietsel Jones, MSc

Data Tecnica International | Bethesda, MD, USA

Member

Hirotaka Iwaki, MD, PhD

Data Tecnica International | USA

Member

Emily Navarro-Jones, MSc

UCL | London, UK

Member

Enza Maria Valente, MD, PhD

University of Pavia, IRCCS Mondino Foundation | Milano, Italy

Member

Azlina Ahmad-Annuar

University of Malaya | Malaysia

Member

Jean-Christophe Corvol, MD, PhD

Sorbonne Université | France

Member

Amanda Schneeweis, PhD

GP2 | Chicago, IL, USA

Milestones

Completed

  • Collaborator-friendly variant carrier reports and release-specific carrier lists (with DAWG)
  • SOP for interactions with external collaborators/industry for gene and variant carrier look-ups

Active

  • Consensus pathogenic, disease-associated and risk variant resource
  • Gene- and variant-specific summary reports for external collaborators
  • Regular updates of curated variant interpretation resources
  • Integration of clinical trial cohorts into GP2
  • Framework for integrating biomarker data into genetic interpretation
  • Identification and longitudinal follow-up of potentially trial-eligible genetically defined cohorts