To mark Rare Disease Day, we have a guest blog from Mike who is kindly willing to share his experience with familial dyskeratosis congenita. Hello, my name is Mike and I have a rare disease. It is called Dyskeratosis Congenita (DC) and it runs in my family. My father and my uncle (his twin) had […]
Durhane Wong-Rieger, President & CEO of CORD (Canadian Organization for Rare Disorders), has kindly shared this guest blog explaining why this year is so important for CORD and how they will be getting involved with Rare Disease Day 2020. Rare Disease Day 2020 – A Significant Watershed Every four years, International Rare Disease Day falls […]
Now in its 12th year, Rare Disease Day will be celebrated globally on February 29 2020. Here we explain why we want to get involved, and how you can show your support! Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness amongst the general […]
Here we discuss the key findings and conclusions from a recently published study ‘Comparison of flow FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies’. Why test telomere length, and how? Telomere length testing is an important element in the diagnosis of dyskeratosis congenita (DC) and telomere biology disorders (TBDs) when assessing […]
Providing a correct and timely diagnosis can be challenging, especially for rare diseases. In this blog we address some key benefits of an accurate diagnosis for patients and their families. In some conditions, telomere testing may provide information to support this. Making an accurate diagnosis can be challenging, particularly for physicians faced with rare diseases […]
As Director of Clinical Development & Research at RepeatDx, Dr Geraldine Aubert is at the forefront of cutting-edge research partnerships. Here she explains the success of translational telomere research and the importance of striving to learn more. For many patients and sometimes family members, the diagnostic journey for suspected Telomere Biology Disorders (TBDs) involves several […]
As a relatively new and constantly advancing science, telomere biology is not yet fully understood. This is an exciting time for research in the field, with many opportunities for new discoveries. Although, in the meantime, with the lack of knowledge comes the risk of misunderstandings and telomere testing myths. Myth #1. Telomere length measurements can […]
Navigating insurance coverage for healthcare costs can be difficult, especially when dealing with less common conditions and tests. We’ve compiled some tips and resources to help when it comes to ordering telomere length testing. For physicians supporting patients through diagnosis, it can be a complicated and lengthy process, especially in the case of rare […]
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 […]
We were very excited to attend our first PFF Summit this year, as pulmonary fibrosis is a growing area of focus for us at RepeatDx. Here we reflect on our experience and share our highlights… Telomeres and pulmonary fibrosis The field of telomere biology research has grown dramatically in the last 15 years and associations […]