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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Are your needs as a DC patient or carer being met? The US National Cancer Institute is carrying out a worldwide survey of patients and carers looking after someone with dyskeratosis congenital or a related telomere biology disorder. If you are 18 years or older, please take 20 minutes to fill in the survey, at[…]
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[…]
DC Action is working with six other small, rare bone marrow failure charities as part of the Together for Healthy Bone Marrow Alliance. Other members are The Aplastic Anaemia Trust, PNH Support, Congenital Anaemia Network (CAN), DBA UK, SDS UK and Fanconi Hope. Meeting regularly, we share best practice and learn from each other’s experiences. This is particularly valuable as[…]
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[…]
An open letter to the UK’s Chief Medical Officers from the Together for Healthy Marrow Alliance 12th July 2021 Professor Chris Whitty, Chief Medical Officer, England Dr Frank Atherton, Chief Medical Officer, Wales Dr Gregor Smith, Chief Medical Officer, Scotland Dr Michael McBride, Chief Medical Officer, Northern Ireland Dear Chief Medical Officers, We are an[…]
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[…]
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[…]