INVESTIGATING THE GENOME
PSORIASIS - MIXED PATTERN DISEASE
Evidence of acquired component.
Unknown skin antigens stimulate immune response, antigen-specific memory T cells are primary mediators.
Leads to impaired differentiation and hyper proliferation of keratinocytes.
INFLAMMATORY BOWEL DISEASE IBD - ULCERATIVE COLITIS AND CROHN’S DISEASE
SYSTEMIC LUPUS ERYTHEMATOSUS
Chronic, inflammatory, multi-system disease
Skin, joints, kidneys, CNS involvement
10:1 females to males affected, more common in child-bearing years.
You use GWAS to find loci that are common for these conditions.
Then you can devise therapies and drugs to combat the issue.
Whole genome - 3billion base pairs
Whole exome - 30-50 million base pairs, protein coding exons
HOW TO IDENTIFY CASUAL VARIANTS
Filter frequently observed variants
Look for variants identified as pathogenic
Look for variants in genes linked to condition
Look for variants that effect functional elements
Look for variants that are normally conserved