Telomere testing just got easier

Dyskeratosis Congenita (DC) is caused by premature shortening of the telomeres, and tests for telomere length are important in making the diagnosis. Accurate telomere length testing can be difficult, but scientists are making promising advances in this area. Researchers at Cardiff University and Queen Mary University of London have developed a rapid test for the[…]

Understanding the COVID risk for patients with rare diseases: new interactive tool

A team of clinical genetics doctors working in collaboration with the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT company) have developed an interactive tool for people with rare diseases. The tool is a quick online questionnaire that allows patients to better understand their risk of Covid-19 and is based on advice[…]

COVID-19: Staying safe

Advice for patients with Dyskeratosis Congenita (DC), telomere biology disorders and their relatives Coronavirus COVID-19 is a new virus which can cause severe pneumonia and damage to other organs, although most people will have a milder illness. It is estimated that 97 to 98% of people contracting the coronavirus will recover, and the vast majority[…]

Blood vessel abnormalities can be challenging in dyskeratosis congenita (DC)

The international DC medical community, along with patient representatives from DC Outreach and DC Action have published an overview of newly recognised complications of DC, including stomach/bowel bleeding, bleeding at the back of the eye (retina), liver and lung complications of abnormal connections between blood vessels. Understanding underlying problems in this way is the first[…]

ball and stick

Low dose danazol study starts in the USA

Danazol is believed to slow down the shortening of telomeres that causes the problems associated with dyskeratosis congenita (DC). A study in 2015 appeared to support this: people treated with danazol actually had lengthening of their telomeres, as well as better blood counts,  better lungs and better liver function. Many doctors believe that low dose[…]

Scientists cure DC mice with gene therapy

Scientists in Madrid have successfully treated mice with a form of Dyskeratosis Congenita (TERT gene mutations) and lung fibrosis with gene therapy targeted at the lungs. All mice treated with the gene therapy showed improvement and some were completely cured of fibrosis after 7 weeks. In contrast, mice treated with a sham gene therapy still had severe[…]

Raise money for DC Action while you shop

Still have Christmas shopping to do? Planning to buy something in the sales? Raise money for your favourite charity at no cost to yourself by following these five easy steps:   Go to https://www.thegivingmachine.co.uk/   Search for DC Action (two words) in the ‘find causes’ box   Click on ‘support’   Download the small app[…]

DC Action attends workshop on bleeding complications in Dyskeratosis Congenita

DC Action was privileged to be part of the ‘Vascular Complications in Dyskeratosis Congenita’ workshop hosted by the US National Cancer Institute in October. Fifty DC experts from all over the world, representing various specialities, along with patient advocates from DC Outreach, our US sister organisation, met to discuss this problem, which has only recently[…]

Could diabetes tablet preserve telomeres?  

A recent study has suggested that Metformin, a cheap and widely available tablet used to treat common conditions such as diabetes, could have a role in preserving telomere length. Metformin has been shown to promote telomere repeat-containing ribonucleic acid (TERRA). TERRA is a molecule that protects and preserves the telomeres, via activation of a natural chemical present[…]