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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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[…]
Pulmonary fibrosis is a serious complication of dyskeratosis congenita (DC). Lung function tests are ‘blowing tests’ where the patient blows into a machine to measure how well the lungs work. These tests can predict lung problems before they develop, which is important given the possibility of future treatments such as pirfenidone and nintedanib (see ‘Treatments’[…]
Each year in December, the British Thoracic Society hold an annual meeting to update respiratory physicians and scientists on the latest news and developments in research and treatment of lung disease. DC Action was delighted to see that Professor Christine Garcia from The University of Texas Southwestern Medical Centre in Dallas was invited to[…]
The possible role of telomere disorders such as dyskeratosis congenita in primary immune deficiency-related disorders was highlighted in two presentations: Revy (Paris) described the role of RTEL1 in families with severe dyskeratosis congenita and also in pulmonary fibrosis: 9 of 47 patients in 35 families with pulmonary fibrosis carried an RTEL1 gene. Revy thought that[…]
Because reductions in telomere length occur in normal ageing, there is huge interest from the general public in treatments which might lengthen telomeres and therefore slow the normal ageing process. Short telomeres are the underlying problem in dyskeratosis congenita, but telomere length is not routinely measured on the NHS. Private spas in London are offering[…]
Mieke and Hilary from DC Action were lucky enough to represent DC Action at the biennial DC Outreach meeting at Camp Sunshine in Maine USA this month. 25 families affected by dyskeratosis congenita, their supporters and medical advisors met for three days of fun, information and mutual support. We are hugely grateful for the medical[…]