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[…]


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[…]


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[…]


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[…]

Layla gene editing

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[…]


Healthy lifestyle crucial for telomere health

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;[…]


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[…]


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[…]


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’[…]