Patient group with rare diseases gets a genome scan

Many rare diseases still have not been properly investigated. It means we often do not know what the exact cause is, and there are hardly any drugs available for treatment. In an effort to learn more about a variety of rare diseases, Washington University is about to unravel the entire DNA of 99 patients. By doing that, they hope to learn more about what causes certain rare diseases. In turn, that hopefully makes designing new treatments more appealing.

Orphan disease

Rare diseases are often referred to as orphan diseases, because they affect a small proportion of the public. They are mostly genetic in origin, such as the rare, but still famous huntington disease which impairs muscle movement. Therefore, it makes sense to scan a patient's DNA for clues about its origin, though what causes huntington is already largely known. The University of Washington allowed 99 patients with rare diseases to sign up for the DNA scanning programme. 

DNA

The scientists will perform a so-called genome-wide association study. The entire genetic code will be unravelled, which means as much as getting to know the sequence of all the building blocks of the DNA. In turn, the researchers hope to find abnormalities which can be linked to a disease, such as a difference in the sequence of building blocks for a particular gene, which can lead to malfunction of the protein it is set to be the blueprint of. 

Cheap

Sequencing the DNA of patients with rare diseases is possible because the required techniques are getting cheaper. When the first human genome was sequenced, it took many years and millions of dollars. However, all we need now is a few days. A while back, a company called Proton showed a machine that is able to unravel the DNA of a human being for the price of about $1000.

Clinic

In addition to being able to afford research for diseases that only affect a small proportion of the public, decreasing prices also make DNA sequencing of interest for clinical use. Because individual variations can affect treatment success, it is sometimes worthwhile to assess the individual genetic factors that underly the disease. It may help clinicians choose the right drug. 

Outlook

Patients with rare diseases often feel left alone, because there is no time or money to investigate the disease they are suffering from. Though, orphan diseases can still be quite severe, or even deadly. And when all these diseases are combined, it reaches a total of 250 million patients worldwide. Therefore, the initiative set up by the University of Washington is of high relevance, and could lead to the development of new drugs and therapies.