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 announced a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment. The UK Rare Diseases Framework set priorities across England, Wales, Scotland and Northern Ireland including: 1) Helping patients get a final diagnosis faster2) Increasing awareness of rare diseases among healthcare professionals3) Better[…]
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[…]
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[…]