It’s a holiday reserved for die-hard science geeks: DNA Day, April 25th, celebrates the anniversaries of both Watson and Crick’s famous report on the double-helix structure of DNA and the completion of the Human Genome Project (HGP).
It’s hard to believe that it has already been a decade since the HGP wrapped up its remarkable achievement, determining the sequence of all 22 chromosomes plus X and Y. On the other hand, so much more has been accomplished since 2003 that in some ways it’s just as hard to believe that it has only been a decade!
One of the most inspiring goals of the HGP was the belief that having a high-quality human genome would be a foundation for improving healthcare. Talk about visionary! The scientists who first conceived of this project knew that the health impact might not be seen for decades, but they still persevered in producing the reference genome.
Today, we can already see the fruits of that labor. Indeed, in well-known milestone cases like those of Nic Volker, the Beery twins, and others, having the human genome reference sequence has been life-saving, or at least led to a radical improvement in the patients’ quality of life. Just last year, scientists offered the first reports of sequencing fetal DNA from a mother’s blood, providing a glimpse of the first truly non-invasive, highly accurate means of prenatal testing.
More routinely, having the human genome has allowed scientists to zoom in on groups of genes known to be implicated in certain diseases and focus their studies just on these relevant genetic regions. In clinical research studies around the world, people are using these gene panels along with next-gen sequencing to evaluate mutations in tumors, provide additional insight into hard-to-diagnose diseases or spectrum disorders such as autism, and much more. Here at RainDance, we are proud to have developed technologies that enable these kinds of studies and to be doing our part to help achieve that great HGP goal of ultimately making a difference in the lives of patients.
Happy DNA Day, everyone!
Join the conversation: What are your thoughts on how far we’ve come?