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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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[…]
Julian Rubenfien, a high school student from New York, has won a competition to investigate why astronauts age more quickly while in space. He thinks that telomeres may shorten more rapidly in space than they do when back on earth and his experiment will check this out. Rapid telomere shortening is also the problem that[…]
Another DC gene has been identified. STN1 has been shown to cause Coats plus syndrome, a severe form of DC where patients have eye and brain abnormalities in addition to bone marrow and other DC problems. There are now two genes known to cause the Coats plus form of DC: CTC1 and STN1. Identifying the[…]
Gene therapy for dyskeratosis congenita? Scientists report first success for dyskeratosis congenita mice
Spanish scientists have reported successful gene therapy treatment for mice with dyskeratosis congenita-like problems. Aplastic anaemia (very low blood counts due to bone marrow failure) was reversed by introduction of a gene therapy virus, which delivered a top up of the TERT gene. TERT gene abnormalities cause dyskeratosis congenita in both mice and humans. Interestingly,[…]