With new DNA sequencing methods being constantly discovered and improved, studying the genetics of an individual has never been so quick and affordable. With these developments fast nearing the world at large, the scientific community is beginning to see new ways to utilise this technology. A common suggestion is to use this technology to identify the specific gene mutations, which cause genetic diseases; such as Sickle cell anemia or Cystic fibrosis. However, because of the complexity of the human genome, tracking down the specific mutation which is causing the disease could still be very difficult and costly.
A research team from the University of Washington has developed a cheap and fast way of tracking down disease causing genetic mutations. How? They compared the genetics of 4 people who were unrelated (ie. Having no family ties), in order to track down the genetic cause of Freeman-Sheldon Syndrome. They narrowed down their search to the 1% of the genome which codes for protein synthesis (exomes). After comparing their DNA, they discovered a mutation at a single gene: MYH3 which was the likely cause of the disease.
The identification of this disease causing mutation took the research team approximately 3 months to complete. They believe with newer and faster genome sequencing techniques, this process could take as little as a few weeks. Now all we need to discover is a cure...
Post by Robert Wu (42051217)
Article Link: http://www.medicalnewstoday.com/articles/161000.php
