Exploring the Power of Rare – Welcome to the World of Rare Diseases! Although we humans may share 99.9% similarity, the 0.1 % variance holds an incredible spectrum of information about our unique traits – from genetics to disease risks! It’s remarkable how much impact this tiny difference can make in the world. Those affected […]
The second edition Telomere Biology Disorders: Diagnosis and Management Guidelines have been officially published. This is a comprehensive reference manual for patients, physicians, and researchers. These updated guidelines are the result of a multi-disciplinary international collaboration between clinicians and scientists united by the goal of improving the lives of people with Telomere Biology Disorders and […]
To help raise awareness of rare disease dyskeratosis congenita, and other telomere biology disorders caused by short telomeres, Jeni has shared her experience this Rare Disease Day. My name is Jeni Colter. At fifty years old, I have many things; A wonderful husband, two great kids, a house, two dogs and very short telomeres. Very, […]
Telomere length is often considered a biological marker for aging and has been linked to cell lifespan, as well as certain diseases. Here we take a closer look at the relationship between telomeres and aging. What is a telomere? A telomere is a repetitive chain of DNA repeats found on the end of our chromosomes. […]
Telomeres play an important role in protecting our chromosomes, but as we age, they decrease in length. In this blog we explore how and why telomeres shorten. Telomere structure Human telomeres are made up of thousands of repeats of the same DNA sequence (TTAGGG), bound by a special set of proteins called shelterin. They are […]
To help raise awareness of rare disease dyskeratosis congenita, Julian’s mom Mayra has kindly shared his journey through 4 stem cell transplants this Rare Disease Day. At the age of 3, our son was diagnosed with a rare genetic disorder called, dyskeratosis congenita. We were really fortunate our search led us to the Jimmy Fund […]
To mark Telomere Biology Disorder Month (TBD Month) this November, Brian is kindly sharing his journey of being diagnosed with dyskeratosis congenita, liver failure and undergoing a liver transplant. My journey with dyskeratosis congenita (DC) started in September 2016 when I was first diagnosed. I had become pretty sick in a short period of time, […]
RepeatDx was established in British Columbia, Canada in May 2005. Fifteen years on, as we celebrate our anniversary, we wanted to take a moment to share some quick telomere testing facts. RepeatDx telomere testing facts Dr Peter Lansdorp developed the Flow FISH telomere testing protocol RepeatDx was established as a spin-off from his lab at […]
With research and clinical applications for telomere length measurements increasing we discuss some situations when it may be helpful for physicians or researchers to order a telomere test. There are many situations in which telomere length measurements can be helpful, both in clinical care and in research settings. For the former, telomere test results can […]
There are multiple different terms for telomere biology disorders, here we explain what they are and what conditions they can encompass. Telomere biology disorders Telomere biology disorders (TBDs) are a complex set of conditions defined by genetic deficits affecting telomere maintenance and by the presence of very short telomeres. These disorders can also be referred […]