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June 25, 2015

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» Researching together: from ideas to impact (CRICS seminar series on Innovation in Research Approaches)

The third monthly seminar of CRICS seminar series on Innovation in Research Approaches was held today. Professor Ruth Northway and her team gave an excellent talk on ‘Researching together: from ideas to impact’. They presented their work on innovative approaches … Continue reading

March 11, 2015

Genomics News
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» First patients diagnosed through the 100,000 Genomes Project

Genomics England has reported today that two families are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt will today meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. … Continue reading

February 27, 2015

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» 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

February 12, 2015

Genomics News
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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

February 10, 2015

Genomics News
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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

January 8, 2015

Genomics News
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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

January 6, 2015

Genomics News
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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

January 5, 2015

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» Dr Mary Frances Lyon 1925 – 2014

It is with sadness that I learned today of the death on 25th December 2014 of Dr Mary Lyon FRS. I had only recently written about her, as someone who had been a source of inspiration to me during my … Continue reading

December 4, 2014

Genomics News
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» Mediterranean diet keeps people ‘genetically young’

BBC Health news reports a study from US researchers that suggests that following a Mediterranean diet might be a recipe for a long life because it appears to keep people genetically younger. Its mix of vegetables, olive oil, fresh fish … Continue reading

» Controversial DNA test comes to UK

A personal DNA test that has sparked controversy in the US has launched in the UK, BBC Health News reports. The UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) says the 23andMe spit test, which is designed to give details … Continue reading