Changes in our genes, both small and large, are a fact of life. They drive evolution, constantly introducing phenotypic variability into the population, ensuring that we, as a species, can adapt to changing environments. However, this same process can also cause disease and illness; in the most obvious instances, and the most devastating, these diseases are diseases of childhood: cystic fibrosis, muscular dystrophy, Tay-Sachs disease, to name a few.
The purpose is to alleviate needless human suffering for many millions of the world’s people by collecting, organising and sharing data on genetic variation.
If diagnosis is much slower than otherwise possible and worse still, if prognosis is inaccurate, then millions of people will suffer needlessly. They will not only suffer from the physical effects of disease, but they and their families will also suffer from the significant psychological, emotional and economic effects.
3rd Human Variome Project Meeting. Implementation and Integration
Overall Goal
Continue to increase awareness of the importance of the aims of the Human Variome Project and the further development of protocols and systems to "collect, curate and make available information on all human genetic variation in all genes from all countries affecting human health" and its funding.
Objectives
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