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[…]
Data Privacy Statement 20 November 2021 CHARITY NUMBER: 1167150 DC Action contacts, friends and supporters 1. Your personal data – what is it? Personal details include any information relating directly to an individual. Examples are: name, phone number, address, e-mail address, bank account details, photographs etc. You are the ‘Data Subject’. The processing of[…]
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[…]
In 2021 the UK government has announced a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment. The UK Rare Diseases Framework, signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living[…]
COVID vaccines are now available in the UK. Make sure you get yours as soon as it is offered. Most people with Dyskeratosis congenita and Telomere Biology Disorders will be classified as “extremely vulnerable” and will have priority for vaccination. All currently available and future COVID vaccines are suitable for those with dyskeratosis congenita. This[…]
Scientists in Boston have discovered a possible new treatment for dyskeratosis congenita (DC), which could prevent or reverse DC for people carrying the PARN or DKC1 (and possibly other) gene variants (mutations). Tests in the laboratory show that the telomeres in genetically modified stem cells normalised when the cells were treated with BCH001 (a PAPD5[…]
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[…]