Genetic Variations Permit Flexibility, Survival
Scientists have identified 52 gene variations that signal macular degeneration risk in humans. Genetic variations are to be expected as the genetic diversity of a population is considered good for adaptation potential because it provides alternative phenotypes which respond to environmental conditions differently. Some of the population may die off, but critical numbers can survive and carry on the species. Unfortunately, some genetic variations cause serious quality of life issues for people who have them.
Examples of Genetic Variations
One example is a genetic variation identified at the Beth Israel Deaconess Medical Center in which certain gene variations in patients tend to lead to severe vascular complications from infections. Another interesting example is the role of genetic variations in susceptibility to pharmacological substance dependence and responsiveness to treatments. And a third example is the disorders of hemoglobin which negatively affect the blood’s ability to perform its functions.
World’s Largest Catalog of Genetic Variations
While significant progress has been made in our understanding of genetics, we are still in the early stages where a large number of whole-genome and exome projects are underway to improve understanding of how complex traits develop. One of these projects is the International 1000 Genomes Project, which is the world’s largest catalog of genetic variations.
The following video explains the 1000 Genomes Project:
The following infographic shows the early milestones in genetics: