Guest blog: CORD and Rare Disease Day

Guest blog: CORD and Rare Disease Day

CORD - Rare Disease Day - RepeatDx

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 […]

Research Update: Flow FISH vs MM-qPCR telomere testing

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 […]

Why is an accurate diagnosis so important and what role can telomere testing play?

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 […]

Full circle from telomere research to clinic – and Repeat!

Geraldine Aubert, who is involved in telomere research

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 […]

What you need to know: insurance and telomere length testing

RepeatDx telomere testing insurance forms

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 […]

Diagnostics and research in the telomere biology field

Components of 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 […]