Category Archives: Health

Raising our hands to support Rare Diseases!

Rare Disease Day 2015 Tomorrow, February 28th, is Rare Disease day. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign primarily … Continue reading

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Medical purposes or “purely for information”? The potential applications of non-invasive prenatal testing.

A paper by Deans et al., (2015) offers an alternative viewpoint into ethics considerations surrounding non-invasive prenatal testing (NIPT). NIPT has been developed to detect cell-fetal free DNA in maternal blood. NIPT is more accurate than current screening methods and … Continue reading

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Mitochondrial disease – so what are the next steps?

Last week you couldn’t move for discussion and speculation about the debate of the draft Human Fertilisation and Embryology (Mitochondrial Donation) Regulations that was about to take place in the House of Commons. The media was full of ‘3 parent … Continue reading

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Cancer Genomes – Is sequencing or functional analysis the way forward?

An interesting article in this weeks Nature News looks at the completion of the multi-million dollar Cancer Genome Atlas project and considers which direction future work might take. With nearly 10 million cancer-related mutations identified, data from this project has … Continue reading

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Expansion to newborn screen tests roles out across England & Wales

The good news for parents and babies about to be born in England and Wales is that the new born screening test has been expanded to included four additional rare metabolic conditions. Also known as the the heel prick test, … Continue reading

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Criticism over NHS Down’s syndrome test availability

According to BBC new, a new screening test for Down’s syndrome is still not available across the Welsh NHS, six years after guidelines said it should be. In 2008 the National Institute for Health and Care Excellence (NICE) said all … Continue reading

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Cancer genetic testing to become a routine part of cancer care

This month has seen the launch of the Mainstreaming Cancer Genetics programme. Led by the Institute of Cancer Research, in partnership with the Royal Marsden Foundation NHS Trust, the Wellcome Trust and Illumina, the three year programme aims to make … Continue reading

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New national competences follow in the footsteps of GPU’s work

We are delighted to see the launch of the Core competences in genetics for sickle cell and thalassaemia counselling. The work undertaken by the NHS Sickle Cell & Thalassaemia Screening Programme has been ongoing since Dec 2011 and Maggie Kirk … Continue reading

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Using genomic information – what makes an expert?

Thanks to the joys of Twitter I have come across an interesting article in ScienceInsider (a news magazine and part of the online presence of the journal Science). Keeping it in the family describes Manuel Corpas’ (a bioinformatician at the … Continue reading

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Born Healthy – reducing the burden of birth defects in developing countries

The Born Healthy programme was established by the PHG Foundation as a response to the urgent need to reduce the burden of birth defects in developing countries. It has recently been singled out in a WHO report as one of … Continue reading

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