Our DNA may hold the key to unlocking countless new medicines, and a drug company is launching an ambitious project to uncover its secrets. The study, expected to last ten years, is being carried out by UK pharmaceutical firm AstraZeneca in association with genetic scientist Craig Venter and his US company Human Longevity (HLI). By sequencing the human genome and studying genetic variations, the team hopes to discover new ways to develop future medicines.

The human genome

A genome is the complete set of DNA, or genetic code, of a living organism. In humans, our genome consists of over three billion base pairs of DNA, and a copy is contained in all cells that have a nucleus. Genome sequencing involves creating a complete representation of the information with the genome so that it can be decoded. The first attempt at sequencing a human genome was completed in 2003, by government-funded scientists, at a total cost of $3 billion. It had taken 13 years to complete the pioneering project. Advances in the field have now drastically reduced both the financial cost and the time required, and a complete human genome sequence can be produced in a mere three days, at a cost of around $1,000.

Genetic mutations

Many diseases are linked to genetic mutations, and the AstraZeneca study intends to find and study rare examples of such mutations so that they can be better understood, which will in turn help to develop effective treatments for them. Last year the company expanded its gene testing efforts into the study of heart disease and asthma. Other drug companies have made efforts recently to collect large amounts of human DNA data, but Venter believes this is the most significant commitment so far.

The research

AstraZeneca has a database of up to two million human genomes, including 500,000 samples which they collected during medical trials. They are keeping tight-lipped with regards to the total cost involved in a study of this scale, but it is estimated that hundreds of millions of dollars have been invested in the project. Volunteers who provided DNA samples also gave access to their medical records so that links can be sought between medical conditions and their individual genes. The group is relocating its worldwide headquarters to Cambridge, and is setting up a genomics research centre there.

Beyond medicine

The findings of the research will be eagerly awaited by scientists working in a number of fields, as it will potentially have far-reaching consequences and will bring new discoveries to improve a number of different scientific applications. Craig Venter believes that this sort of genomic research could open up whole new possibilities in forensic science, with attempts already underway to predict what people look like using just their DNA. There has been much talk about the possibilities for the field of genomics in the past, but it has so far mostly failed to live up to expectations. Now, however, that is about to change, and progress is likely to be fast.