About Dyskeratosis Congenita (DC)
Dyskeratosis congenita is an inherited condition which causes premature ageing of cells and organs due to telomere (the tips of chromosomes) repair abnormalities. This condition can lead to bone marrow failure (anaemia, low white blood count and platelet-blood clotting problems), lung fibrosis, liver cirrhosis and other conditions. It can severely affect children, as well as adults later in life. To find out more, please click on 'Dyskeratosis Congenita' in the menu bar above.
DC Action is a UK Registered Charity (Charity Number 1167150). At DC Action, we focus our efforts on three core areas:
Our advocacy work focuses on research and expert care and treatments.
We aim to raise awareness of DC amongst medical professionals, patients and the public.
We provide support and advice for people affected by Dyskeratosis Congenita.
Professor Inderjeet Dokal
Dr. Jane Paxton
Professor Tom Vulliamy
Professor Graeme Alexander
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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 with rare[…]
COVID vaccines are now available in the UK. Make sure you get yours as soon as it is offered. Most people with dyskeratosis congenita will be classified as “extremely vulnerable” and will have priority for vaccination. Not registered as extremely vulnerable? Register here: https://www.gov.uk/coronavirus-shielding-support All currently available and future COVID vaccines are suitable for those[…]
Rare Barometer Voices has launched a survey on rare disease care. This is part of the Rare 2030 Foresight Study – more information on this study can be found at rare2030.eu. Complete the survey here to ensure your voice is heard and let everyone know your hopes for the future of DC care. It should[…]
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[…]
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[…]
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 disease such as DC 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 meant to[…]
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[…]