Why do telomeres shorten?

Why do telomeres shorten

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 […]

Guest Blog: Julian’s 4 stem cell transplants – his mom shares their story for Rare Disease Day

Julian's story of 4 stem cell transplants

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 […]

What are short telomeres?

What are short telomeres?

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 […]

Guest blog: Brian shares his journey with dyskeratosis congenita for Telomere Biology Disorder Month

Telomere Biology Disorder Month guest blog from Brian

To mark Telomere Biology Disorder Month (TBD Month) this November, Mark 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, […]

What is telomerase?

What is telomerase?

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 […]

Why order a telomere test?

Why order a telomere test?

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 […]

What is a telomere biology disorder (or telomeropathy)?

What is Telomere Biology Disorder word cloud

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 […]

Guest blog: Mike shares his experience with dyskeratosis congenita for Rare Disease Day

Mike shares his story with dyskeratosis congenita to mark Rare Disease Day

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 […]