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Could diabetes tablet preserve telomeres?  

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[…]

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MPs debate government’s rare diseases strategy

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[…]

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Gene-editing breakthrough – what does this mean for DC?

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[…]

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Genomics: hope for a better diagnostic future?

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[…]

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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[…]

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The importance of lung function tests revealed

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’[…]

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VIRGINIA BEACH, Va. (Sept. 8, 2007) - Members of the Blackwater USA parachute team wave Old Glory and the Union Jack during their demonstration at the 2007 Naval Air Station Oceana Air Show. The show featured a variety of civilian and military aircraft flight demonstrations and static displays. U.S. Navy photo by Mass Communication Specialist 2nd Class Jason R. Zalasky (RELEASED)

DC Action meets with British Thoracic Society

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[…]

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DC Action visits European Society for Immunodeficiency (ESID) 2016 Meeting

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[…]

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Telomeres reach the general public

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[…]

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DC Action visits DC Outreach Camp Sunshine 2016

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[…]