Genetic Basis of Complex Disease
Bench-ledFinding the variants that carry risk in diabetes, kidney disease, PCOS, and periodontitis - genotyped in my own hands.
The question
Which inherited variants shape risk in common, multifactorial disease, and which of them actually change protein function?
Laboratory work
DNA extraction, PCR and qPCR, gel electrophoresis, and Sanger genotyping across patient and control cohorts.
Studies in this theme
- OngoingM.Sc. thesis cohort
MMP1, MMP3 & MMP9 Variant Profiling in Periodontitis and Diabetes
- In preparation300 patients · 300 matched controls
Common and Rare Coding Variants in Polycystic Ovary Syndrome
- In preparation37 patients · 9 controls · 9-gene panel
Targeted Panel Sequencing of Cystic Kidney Disease Genes in ADPKD