Value of Indian population for genetic research

From Africa 50K - 70K yrs
  • Indian population originated from a small number of founder families
  • Ancestral population became heterogeneous over time due to diverse climatic and other life style conditions
  • Restricted gene flow between groups created 3000 – 5000 population isolates
  • Population isolates (consanguineous marriages) preserve rare disease alleles associated with complex diseases

Value of population size in genetic research

  • Large number of affected individuals in different diseases
  • Large number of affected families to trace disease inheritance
  • Access to samples in rare disorders
  • Large pediatric population to study diseases that appear early in life
  • Access to cohorts of extreme phenotypes