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
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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[…]
A brave little girl, her big brother and her parents are fighting DC this month. Phoebe, aged five, is having a bone marrow transplant from her brother, aged eight. Phoebe and her family are raising much needed awareness for DC. Read her story, send your love and support us all on https://www.gofundme.com/n7cv9b-phoebes-fund
Still have Christmas shopping to do? Planning to buy something in the sales? Raise money for your favourite charity at no cost to yourself by following these five easy steps: Go to https://www.thegivingmachine.co.uk/ Search for DC Action (two words) in the ‘find causes’ box Click on ‘support’ Download the small app[…]
DC Action was privileged to be part of the ‘Vascular Complications in Dyskeratosis Congenita’ workshop hosted by the US National Cancer Institute in October. Fifty DC experts from all over the world, representing various specialities, along with patient advocates from DC Outreach, our US sister organisation, met to discuss this problem, which has only recently[…]
A recent study has suggested that Metformin, a cheap and widely available tablet used to treat common conditions such as diabetes, could have a role in preserving telomere length. Metformin has been shown to promote telomere repeat-containing ribonucleic acid (TERRA). TERRA is a molecule that protects and preserves the telomeres, via activation of a natural chemical present[…]
Last week, MPs in the House of Commons debated the government’s Strategy for Rare Diseases, first published in 2013. Ben Howlett, MP for Bath and Chair of the All-Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, said that this “should have heralded a new era of treatment and care for rare diseases” – but[…]
Photo credit: The Times The Times reports that a pioneering gene-editing treatment is likely to have been successful in treating a little girl suffering from leukaemia. This follows an article last year, which first reported on the procedure. Two-year old Layla could potentially be the first person in the world to have been saved[…]
In an interview to promote her new book, Elizabeth Blackburn, winner of the Nobel Prize for her work on telomeres, describes the small lifestyle changes that can make long-term changes to telomere length, and to healthy lifespan. Moderate exercise, 45 minutes of walking three times a week is as good as marathon running; stress reduction;[…]
Since dyskeratosis congenita (DC) is so rare, getting diagnosed is a major problem. Blood tests which could help, such as telomere length, are not available to most doctors, so it is likely that many people with DC never know their true diagnosis and therefore may not receive the best treatments. One approach to rectifying this[…]
Arteriovenous (AV) malformations revealed as additional cause of lung disease in dyskeratosis congenita
Arteriovenous (AV) malformations revealed as additional cause of lung disease in dyskeratosis congenita. Arteriovenous (AV) malformations are joins between arteries and veins. They bypass the tiny capillaries that deliver oxygen to the tissues. Recent reports suggest that AV malformations in the lungs, as well as in the intestine, could be a problem in dyskeratosis[…]