A decade ago, it was announced that a Nobel Prize was being awarded to researchers for the discovery of “how chromosomes are protected by telomeres and the enzyme telomerase”. Ten years on, we reflect on this win and the impact it has had on the field of telomere research.
A Nobel Prize win
It was announced on October 5 2009 that the Nobel Prize for Physiology or Medicine was being jointly awarded to Elizabeth H. Blackburn, Carol W. Greider and Jack W. Szostak for their discovery of “how chromosomes are protected by telomeres and the enzyme telomerase”.
This amazing achievement was a hugely important moment for the telomere research community, as well as for the talented individual scientists, sparking interest and opportunity for further research in the area.
At the time that the announcement was made all three scientists had been working in the field for over 20 years, and the journey to this historic moment had been made up of a series of key discoveries.
The research journey
It was back in 1980 that Blackburn unveiled the DNA sequence that she had identified at the ends of chromosomes, TTGGGG (found in the organism Tetrahymena).
This discovery initiated a period of collaboration between Blackburn and Szostak, and in 1982 they were in a position to announce the results of their research study. The pair demonstrated that this DNA sequence, a telomere, acted to protect chromosomes – thus bringing clarity to the role of this sequence in cellular biology.
It was graduate student Greider, along with Blackburn, who then went on to identify and name the enzyme telomerase. It became clear that this was the enzyme that could add new telomere DNA repeats at chromosome ends, thereby preventing the loss of genetic material.
With the basic molecular structures of a telomere and that of telomerase established, each of the researchers went on to investigate further. Conducting separate studies, the three scientists came up with compatible findings. It was shown that shortened telomeres and damaged telomerase both resulted in premature cellular aging (senescence).
In a separate blog you can read more about the structure and function of telomeres, and the impact of premature cellular aging.
The real-world impact
These findings had a “major impact within the scientific community”*. They not only sparked an intense interest in better understanding the aging process, but they highlighted new avenues for cancer research, given that increased telomerase activity enables high rates of cell division overcoming senescence.
Most relevant for the work we do at RepeatDx is the improved understanding of inherited Telomere Biology Disorders (TBDs). These inherited diseases, caused by telomeres and / or telomerase not functioning correctly, include dyskeratosis congenita, bone marrow failure, idiopathic pulmonary fibrosis and congenital aplastic anemia, among others.
Having a better understanding of the causes and underlying mechanisms of these conditions allows for advances in research for both diagnostic tools and potential treatments.
Telomere length testing provides doctors with an accurate picture of how an individual’s telomeres are functioning – in some situations this can be vital in aiding diagnosis and guiding treatment decisions.
You can find out more about telomere biology disorders and why telomere testing can be an important diagnostic and treatment guidance tool here.
You can read the original press release announcing the Nobel Prize win here.