Category Archives: Research and Medical

Euro DBA Symposium

We are very excited to tell you about a world first meeting happening in Freiberg, Germany over September 19th and 20th, hosted by the EuroDBA Consortium. This is a global gathering of clinicians, researchers and patient advocates from 25 different countries, … Continue reading

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DBA UK Family Weekend 2014!

A huge thank you to everyone who came along to PGL Caythorpe for the 14th annual DBA UK Family Weekend and made it thoroughly enjoyable! We had around 160 people join us for some fantastic talks, activities and opportunities to … Continue reading

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Free E-Book – Rare Genomics

Hello everyone, we just wanted to let you know about a free e-book you can download from the Rare Genomics Institute, the book is called “Rare Diseases – Diagnosis, Therapies and Hope”. You can download this book for free here … Continue reading

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Recent DBA Research

Dr Elspeth Payne, Senior Clinical Researcher at University College London Cancer Centre, has kindly summarised some recent DBA-related research for DBA UK.   1. Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes. Pereboom TC, Bondt … Continue reading

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DBA Care Pathway Preview

Hi everyone, we’re pleased to announce that Dr Josu De La Fuente is in the final stages of releasing his Care Pathway for Diamond Blackfan Anaemia. He is happy for us to release it to you in it’s current form, … Continue reading

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Camp Sunshine Feedback – Part 2 – The Webb Family

In July this year, we were very proud and pleased to send two families on behalf of DBA UK, to Camp Sunshine in America for their DBA event which is held every other year. What follows is the second piece … Continue reading

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Camp Sunshine Feedback – Part 1 – The Rix Family

In July this year, we were very proud and pleased to send two families on behalf of DBA UK, to Camp Sunshine in America for their DBA event which is held every other year. What follows is feedback from the … Continue reading

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DBA UK Family Weekend 2013!

A huge thank you to everyone who came along to PGL Caythorpe for the 13th annual DBA UK Family Weekend and made it our highest attended so far! We had nearly 170 people join us for some fantastic talks, activities … Continue reading

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DBA Research Trial Calls For Participants

Welcome everyone, DBA UK have had a request from Diana Wright (who will be attending this year’s Family Weekend in May) for participants in a research trial which she has obtained funding for. It is to put into context the … Continue reading

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“Do you know who I am?” – NHSBT Campaign

Yesterday marked the start of the new NHSBT campaign – “Do you know who I am?”, which is aimed at blood transfusion recipients. It is focused on getting patients to ask staff before they are transfused to check their identity … Continue reading

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