As you may already be aware, DC Action is part of an exciting project called Better Together for Healthy Bone Marrow. This is a project supported by The National Lottery Community Fund and sees us working alongside six other small but mighty charities. We would like to share our Better Together Newsletter with you which[…]
If you’re living with aplastic anaemia, or other bone marrow failures, including those associated with dyskeratosis congenita, you will likely be dealing with a lot of stress and uncertainty. Whether you have the condition yourself or you’re supporting a close family member, it’s important to look after your mental health and find ways to manage[…]
Did you know that scarring or fibrosis can affect different organs in the body and is a factor in many common medical conditions and rarer ones too, including Telomere Biology Disorders? The DEMISTIFI study is an exciting new research project that aims to understand the cause of fibrosis in different organs and conditions. Information[…]
Dr Kasiani Myers, from Cincinnati has treated the first patient with DC-related bone marrow failure, with an experimental new gene therapy (EXG34217). The trial is in its very early, safety testing stages but we hope that the treatment will help treat bone marrow failure. The trial is open to adults (18 or older) with DC[…]
Dyskeratosis Congenita (DC) and other Telomere Biology Disorders result in premature shortening of the telomeres and tests for telomere length are important to make a 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[…]
Advice for patients with Dyskeratosis Congenita (DC), telomere biology disorders and their relatives You can see the latest COVID-19 advice from the UK Health Security Agency here: Living safely with respiratory infections, including COVID-19 Guidance for living safely with respiratory infections, including coronavirus (COVID-19) http://Guidance Living safely with respiratory infections, including COVID-19 Guidance for living[…]
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[…]
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[…]
Gene editing (CRISPR CAS9) is a technique where the faulty gene causing a genetic diseases such as Telomere Biology Disorders could be removed and replaced with the correct gene. Treatment in experimental mice has been very promising. However, a recently published study shows that gene editing can introduce new mutations into the gene it is[…]
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[…]