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Blood vessel abnormalities can be challenging in dyskeratosis congenita (DC)

The international DC medical community, along with patient representatives from DC Outreach and DC Action have published an overview of newly recognised complications of DC, including stomach/bowel bleeding, bleeding at the back of the eye (retina), liver and lung complications of abnormal connections between blood vessels. Understanding underlying problems in this way is the first[…]

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DC Action Doctors and Scientist meeting – invite your specialist

DC Action is holding its first UK scientific meeting on Friday October 5th 2018 at Imperial College, London. Internationally renowned speakers from a variety of specialities will be meeting to find ways of bringing better services to UK patients and pushing forward DC research. The meeting is free to attend, so contact your specialists and[…]

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Low dose danazol study starts in the USA

Danazol is believed to slow down the shortening of telomeres that causes the problems associated with dyskeratosis congenita (DC). A study in 2015 appeared to support this: people treated with danazol actually had lengthening of their telomeres, as well as better blood counts,  better lungs and better liver function. Many doctors believe that low dose[…]

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Scientists cure DC mice with gene therapy

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[…]

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Brave Phoebe, 5, fights DC

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

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Raise money for DC Action while you shop

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[…]

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DC Action attends workshop on bleeding complications in Dyskeratosis Congenita

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[…]

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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[…]