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.

Auto-antibody production

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

#genomics