Accelerating Biological and Biomedical Research

Pharma IQ

The outlook for genome research looks bright. A technological evolution in the past few years has reduced the cost of DNA sequencing, accelerating the possibilities for future research.

The National Human Genome Research Institute (NHGRI) in the United States believes that there are a series of "quantum leaps" which would present a huge step forward within this area of research but would not 'violate the laws of physics'.

Reduced costs open up research   

Many of these quantum leaps relate to a huge reduction in costs for genome research, such as the ability to identify a genotype in a study involving 2,000 individuals for $10,000 (£6,300) or less.

The NHGRI also foresees a time when it's possible to monitor the state of all proteins in a single experiment.

Predictions for the market for DNA sequencing over the next five years are also promising. A Companies and Markets report recently suggested that by 2015 the market will be worth $3.3 billion, compared to $1.3 billion today.

Demand for DNA sequencing in relation to the genomes of species and cancers means the market is likely to see a compound annual growth rate of 20.5 percent, largely driven by life sciences and drug discovery.

Much of this growth has been made possible by new sequencing technologies which have entered the market since 2005, the report identified, including advancements in "nanotechnology, microfluidics, enzymology, imaging and bioinformatics."

New approaches to DNA sequencing

Further to this project growth and advancement for DNA sequencing, changes to the way such research carried out is taking place now.

The NHGRI, which is one of the main funders of genome research in the United States, has changed the way it distributes its support, Nature reported.

In the past, the NHGRI has almost exclusively funded projects at larger centres, but it is now taking a different approach and is looking to support smaller, more highly targeted research projects.

According to the news provider, Adam Felsenfeld, director of the NHGRI's large-scale sequencing, said funding will be reduced for the institute's three largest beneficiaries - Baylor College of Medicine in Houston, Texas, the Broad Institute in Cambridge, Massachusetts, and Washington University in St Louis – to create room to invest in three further projects.

Eric Green, the institute's director, said: "We're trying to actively go beyond large centre models."

The institute also recently announced it would be providing funding for the development of third generation DNA sequencing, which will allow for sequencing to be completed in less time and at a lower cost.

More than $18 million was provided to ten different research teams, with the aim of creating technologies which will allow the human genome to be sequenced by less than $1,000. The current cost is estimated to be around $40,000.

Using DNA sequencing to combat rare diseases

DNA sequencing plays an important role in establishing the cause of rare genetic diseases, and subsequently the possibility of finding a cure or preventing future generations suffering with the conditions.

Recent triumphs for this area of research include a team at the Universityof Washington in Seattle using second generation sequencing techniques to identify the gene which causes Kabuki syndrome; a rare genetic disorder which affects one in every 32,000 births.

Eric D Green, director of the NHGRI, said: "It's clear from this work that new DNA sequencing technologies are powerful and effective tools that scientists can use to accelerate the discovery of genes involved in rare diseases, an effort that previously was slow and costly."

Next generation sequencing has also been used by researchers at the same university to discover an association between the rare genetic diseases Perrault syndrome and DBP deficiency.