Issue 521 (17 August 2009)

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The case for integrated service delivery in the UK for patients with rare diseases

17 August 2009 - by Alastair Kent

Rare Disease UK is a national alliance of key stakeholders including patient organisations, industry, clinicians, academics and individuals bought together to call for a response to the unmet care needs of those with rare diseases who currently struggle to get access to integrated care and support from the National Health Service (NHS). There are over 6000 rare diseases affecting over 3.5 million people (one in 17) in the UK...[Read More]

The problem with 21st Century Motherhood

17 August 2009 - by Dr Sammy Lee

Did the death of Maria Bousada change public attitudes to the modern phenomenon headlined as 'Oldest Mums'? The world's media certainly made hay and the news reverberated for a few days; and it seems likely that the Channel 4 documentary 'the Worlds Oldest Mums' was rescheduled to screen early to catch the media wave which the death generated. The aftermath, though, of this tsunami seems to have largely been relative indifference....[Read More]

Human genome sequenced for $50,000 with third generation technology

17 August 2009 - by Will Fletcher

Third-generation 'single-molecule' technology has been used for the first time to read a human genome sequence. Professor Stephen Quake, from Stanford University, California, US, is only the eighth person whose genome has been published since the first breakthroughs were made in 2000. When this latest generation of technology is perfected the hope is that it will bring us one step closer to ‘the $1000 genome' that will open the door to personalised medical treatme...[Read More]

Over-the-counter paternity testing goes on sale in the UK

17 August 2009 - by Antony Blackburn-Starza

A 'do-it-yourself' genetic testing kit will be available over-the-counter from chemists in the UK which allows users to send their own DNA samples by post for paternity testing. The kits cost £29.99 each and are produced by Anglia DNA, a company based in Norwich. Customers are required...[Read More]

Twin saviour siblings born in the UK

17 August 2009 - by Ailsa Taylor

Twins born following IVF treatment to select embryos which would be a tissue match for their elder brother are thought to be the first incidence in the UK of multiple 'saviour siblings'. Out of just twelve licences granted by the Human Fertilisation and Embryology Authroity (HFEA) to permit families to create a saviour sibling, only this one has resulted in twins....[Read More]

Expert urges women to test fertility at 30

17 August 2009 - by Ailsa Taylor

Many women are risking their chances of being able to have children by leaving it too late, according to Bill Ledger, Professor of Obstetrics and Gynaecology at the University of Sheffield. He told the Daily Telegraph that women who chose to delay motherhood until their 30's and beyond in order to establish their careers were ignoring the implications this could have for their fertility....[Read More]

Gene therapy improves vision in rare hereditary blindness condition

17 August 2009 - by Rebecca Robey

A phase I clinical trial in the US has successfully used gene therapy to improve vision in individuals suffering from a rare form of hereditary blindness. The promising results of this trial pave the way for future trials and may eventually lead to a cure for several forms of congenital blindness...[Read More]