Diagnostics and research in the telomere biology field

Geraldine, Director of Clinical Research and Development, shares her perspective on scientific and medical research into telomere biology, that could be useful for those in the Telomere Biology Disorder (TBD) community.

For this article, I chose to write a little bit about the different categories or ‘flavors’ of scientific and medical research that are relevant to the TBD community. As you will see, these categories are all interconnected, much like the pieces of a puzzle.

In the beginning…

All research projects start with a new idea or hypothesis, which will need be tested against what we already know. They are designed to control for variables and ultimately lead to improvements in current medical practice. This is how knowledge and medical interventions can advance, with the ultimate goal of improving care for individuals with TBDs – and all diseases, for that matter.

The first research category is basic research, also known as fundamental research. The results define how we understand the inner workings of biology at the molecular level. For example, when a new TBD causing gene is identified, basic research allows us to figure out how the gene functions and how mutations can lead to, or play a role in TBDs. This research typically provides the foundation of knowledge that leads to our second category of research – translational research.

The second category, translational or applied research, typically aims to identify and test interventions that can correct or have a positive measurable effect in a laboratory setting. For example, the identification of a new TBD gene or biological process involved in TBDs can lead to the development of a candidate drug that could be beneficial. This will then be tested in a laboratory setting (in cells derived from patient samples or in model systems reproducing what happens in patient samples).

If this testing is successful, it will lead us to the third category of research which are clinical research and clinical trials. At this stage, a novel approach is tested for a beneficial effect, above and beyond the best currently available medical approach. In this type of research, the individual affected will be directly involved in the testing of a new drug or procedure (that has already been shown to work in principle in the previous research categories). Clinical trials aim to answer the following questions: Is it safe? Does it have any other effects (desirable or not)? Does it have the intended benefit?

So which research category is more important?

Well, the ‘take home’ message is that they all are, and they are not mutually exclusive. So, it may be possible to participate in several research studies that each may be in a different category. Although progression between research categories is most often from basic to translational to clinical, this is not always the case.

And the most important part is the active participation of individuals affected by TBDs and their families! None of this is possible without your involvement in each of the different categories of research. You are that essential corner piece of the research puzzle where everything starts and connects back to.

This blog has been adapted from an article written for the Team Telomere October newsletter.

Team Telomere is an international community for telomere biology disorders, offering support and information for those affected by TBDs. 

RepeatDx is a leading clinical laboratory specialized in telomere length testing. For more information on telomere testing and the conditions it can be useful for, click here.