1. Physiological Genomics
Dr. Marko Ljubković
Department of Physiology

2. Human genome project Initiated in 1990 15 years and $3B
Approx genes identified
Small portion of DNA code for proteins

3. Opened questions How to recognize the gene?
Significance of the non-coding regions?
How to understand the gene function?

4. Parallel projects Similar genome projects in animal species
Comparative genomics

5. Deciphering function of the genes
Use of animal models
Application of various genomic tools
Development of technology (multidisciplinary approach)
gene knockout
Transgenic animals

6. Linking the phenotype (disease) to the gene
Animal models
Example
Salt sensitive rat (hypertensive)
Brown-norway rat (normotensive)
SSBN 13 – reduced hypertension
Generation of consomic animals

7. Linking the phenotype to the gene
Narrow down the region of interest (congenic animals)
Analyze the candidate genes
How to pinpoint the specific gene?

8. Linking the disease to the gene
Human studies
Phenotypic analyses
Cases and controls
Whole-genome scanning
Determine the regions of interest (QTLs)
Identify candidate genes
Confirm in animal models (knockout)
Transgenic rescue