Work package 2: Gene discovery

Lead: Cardiff University

Objectives

The work package aims to combine real-world data (RWD) with genetics and perform gene discovery analyses. Specific objectives are to:

  • Discover common and rare genetic risk factors for treatment outcome and multimorbidities.
  • Define pharmacological treatment trajectories and discover associated genetic variants.

Description of work

WP2 will identify common and rare genetic variants associated with treatment outcome and multimorbidities. In addition, the WP will characterise treatment trajectories and identify genetic variants associated with specific trajectories. It will focus on gene discoveries on the harmonised and curated RWD from WP1. We estimate that with a sample size of n~260k with mental disorder phenotypes (treatment outcome, multimorbidities) from a total sample of ~1.9 million individuals, we will have adequate power for the discovery of a sizeable fraction of the genetic architecture of these disorders.

We will do state of the art analysis of the large curated data set, using novel methods enabled by the secure, GDPR compliant data infrastructure (WP1).

Key WP2 tasks

  • Identification of common and rare genetic variants related to treatment outcome and multimorbidities.
  • Determination of genetic factors associated with pharmacological treatment trajectories for schizophrenia (SCZ), bipolar disorder (BIP) and major depressive disorder (MDD).
Published Jan. 25, 2022 11:17 AM - Last modified Jan. 25, 2022 11:17 AM