Month: April 2016

Life with an undiagnosed condition: what does it really mean?

The 29th of April is the 4th nationwide annual Undiagnosed Children’s Day. It is organised by SWAN UK (Syndromes Without A Name) – an initiative of the charity Genetic Alliance UK offering support and information to families of children with undiagnosed conditions. Today, we are talking to Claire Walton about what living with an undiagnosed condition means in practice. Claire and Rowan (photo from Claire’s archive). 1)  Could you please introduce yourself and tell us bit about the background? Hi, I am Claire, single mum of 4 children, and we live in Northamptonshire. My daughter is 13, and I have 3 sons aged 10, 8 and 7. All three of my sons have undiagnosed genetic conditions. It is thought that they all have the same ‘thing’ but as yet we do not know what ‘it’ is. They have an array of challenges and issues, including hypoglycaemia, hypothyroidism, possible hypothalamic disorder, growth hormone deficiency, calorie handling issues, GORD, colonic dysmotility, hypermobility with chronic pain, fatigue, hearing issues, developmental delay, speech delay, educational challenges and previous severe failure to thrive, coeliac disease, and other food intolerances. Rowan has an inability to feed ‘normally’, and is therefore reliant on Parenteral Nutrition (Intravenously fed), […]

DNAdigest’s new paper in PLoS Biology

The work of DNAdigest has recently been featured in PLoS Biology Our team was invited to contribute to the Community Pages of PLoS Biology. We drew attention to the fact that only a small fraction of sequencing data is present in the repositories and can be accessed and re-used in research (Fig. 1). Fig. 1. Whereas ~80 petabytes of sequencing data is generated every year, only ~0.5 petabytes is accessible via repositories. This gap between the availability of genomic information and the production of it can be at least partially attributed to the absence of tangible benefits for the individuals who make data available and, at the same time, to the existence of sanctions for improper handling of personal information. However, when data donors give consent for their data to be used for research, they set their expectations that the data will actually be used for this purpose. To not utilise their data in the best possible way within the consent given goes against the data donor’s interests and expectations. Ironically, human genomic data is probably the most important data to share, since it lies at the heart of efforts to combat major health issues such as cancer, genetic diseases, […]

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