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 Biology Disorders (TBDs) are also known as Short Telomere Syndromes or telomeropathies. This video explores what causes TBDs and how they can impact people’s health. Telomere Biology Disorders (TBDs) are characterized by genetic deficits affecting telomere maintenance and by the presence of very short telomeres. Symptoms of TBDs can range significantly from person-to-person. In […]
The key to keeping our cells healthy may be down to the enzyme telomerase. In this video we cover how telomerase helps maintain telomere length in our cells, and how this influences how our bodies age, and why we develop diseases like cancer. Over time, with each cell division, telomeres shorten. When telomeres are too […]
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 […]
In this blog we examine what short telomeres are and what short telomere syndromes can mean for certain individuals. What are telomeres for? Our chromosomes need to be protected to prevent damage, or them fusing with other chromosomes. Telomeres are the protective structures found on the end of chromosomes. They are made up of thousands […]
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, […]
This Telomere Biology Disorder Awareness Month (TBD Month) we have a guest blog from Colleen, Team Telomere President & Chair of Legacy. Colleen is kindly sharing her families’ story from unexpected diagnosis, to health care journeys, to the strength she has found in the Team Telomere community. If you would’ve told me 15 years ago […]
Telomerase is an enzyme whose main function is the maintenance of telomeres. Here we examine what the purpose of telomerase is and the impact when it doesn’t work as it should. What is telomerase? Telomeres are the protective caps found at the end of our chromosomes and they act by preventing damage or fusion with […]