Author Archives: Emma Tonkin

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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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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Calling all early and mid-career researchers: Welsh Crucible is for YOU!

Now in its second year, Welsh Crucible brings together early and mid-career researchers from the St David’s Day Group with researchers from business, industry and the public sector in Wales for a programme of personal, professional and leadership development. Held … Continue reading

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Language – how do we link words to objects, concepts and ideas?

I recently posted about the genetic link between touch and hearing. Today another fascinating article has come my way via the NatureNews twitter feed. The piece by Ewen Callaway looks at a family who are working with researchers at the … Continue reading

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What young people think YOU should know about cancer

Take a look (click on the image) – you’ll be amazed. Once again colleagues within the GPU (Rachel Iredale and Kim Madden) have undertaken an amazing piece of work with young people on what can be a very difficult subject … Continue reading

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