Uploaded on


More in: Education
  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Be the first to comment
    Be the first to like this
No Downloads


Total Views
On Slideshare
From Embeds
Number of Embeds



Embeds 0

No embeds

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

    No notes for slide


  • 1. Sucheta Tripathy, IICB, 15th Dec 2012
  • 2. Mutation and disease Many of the diseases occur because of mutation  4000 diseases have altered gene.  Heart disease  Cancer  Auto immune disorders  Diabetes
  • 3. http://www.cancer.gov/cancertopics/understandingcancer/genetesting/GENETEST.PDF
  • 4. Cancer Genetics RB1 mutation leads to Retinoblastoma. BRCA1 mutation is linked with breast cancer.
  • 5. The Cancer Genome Atlas Project to catalogue all mutations in cancer (2005).  Glioblastoma  Ovarian cancer  Lung cancerGene Expression ProfilingCopy number variationSNP GenotypingGenome wide DNA methylationMicroRNAExome sequencing
  • 6. Immunogenetics Genetic link leading to Immune related dis-orders.  Father of Immuno Genetics is Edward Jenner. In year 1796 predicted human smallpox can be treated with cowpox. Multiple Sclerosis Type-1 Diabetes Rheumatoid arthritis. Ref: http://www.idi.harvard.edu/uploads/investigators/Immunogenetics- coi.pdf
  • 7. IMGT
  • 8. IMGT
  • 9. Human Genome Project NHGRI Solicited RFAs were First pilot sought for Publicati proposal for full on in ENCODE ENCODE 2000 In October GWAS - Finished 90% lies First Report 1990 Human ENCODE paper in outside on Encode Genome coding published 2003 Published inproject started 2005 2012 2007
  • 10. Genome Mapping What does it mean?  Mapping multiple variation of the same gene. HapMap Project: Mapping Haplotype of human genome Genetic variants affecting health Disease and Environme response to ntal Effects drugs
  • 11. HapMap Project• To study the effect of environment and their effects on diseases.• 99.5% DNA are similar.• 269 individuals genotype.• One million SNPs genotyped – Rose to 10 million including polymorphic sites.http://en.wikipedia.org/wiki/International_HapMap_Project
  • 12. What we knew• 95% of the genome is “junk”. – 2.94% of the genome is coding• cis regulatory elements occur within a limited genome distance.• Most of the genome is transposable elements that are of obscure origin are dying.• Transcribed elements are most often translated than not.
  • 13. 1000 genomes project Copy Number Variation SNPs Indels http://en.wikipedia.org/wiki/1000_Genomes_ProjectYoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents withancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai inKinyawa, Kenya; Toscani in Italy; Peruvians in Perú; Gujarati Indians in Houston;Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles
  • 14. HapMap Project SNPs occurring at least 1% of the population.  If a SNP in one site is known, then the SNP in the nearest site can be identified.
  • 15. Reference http://www.nature.com/ejhg/journal/v21/n1/full/ejhg2 01169a.html http://nar.oxfordjournals.org/content/34/suppl_1/D78 1.full