Time : 11:00 am , Apr. 23 (Monday)
Venue: Room 315, SIBS Main Building, Yueyang Road 320
Host: Prof. Zefeng Wang, CAS-MPG Partner Institute for Computational Biology
Speaker: Lining Guo, Ph.D.
Vice President of Project,
Title: Metabolomics in Precision Medicine:
From big data to individual genetic risk assessment and disease management
The human metabolome represents a high resolution intermediate phenotype that bridges the impact of genetics, non-genetic factors, and health/disease end points. Genetic factors modifying the blood metabolome have been investigated through GWAS of common, low frequency, and rare genetic variants. Population analysis has further provided insights on the natural variation and regulation of human plasma
metabolome. Based on the knowledge we have learnt from large cohort studies, we combined metabolomics and whole genome/exome sequencing in individual clinical cases and provided novel insights to:
1) clarifying sequence variants of unknown significance (VUS).
2) Identifying metabolic defects in undiagnosed disease cases leading toclinical intervention
3) Identifying drug toxicity and responsiveness