Genomics

NHS patients with rare genetic disorders to be fast-tracked to earlier diagnosis and specialist care

Hundreds of people with a range of rare conditions primarily affecting the central nervous system will be fast-tracked to diagnosis and specialist care, thanks to the launch of a pioneering new NHS service. Patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, will now have rapid access to expert teams, increased virtual support […]

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World-first national genetic testing service to deliver rapid life-saving checks for babies and kids

The NHS will be able to diagnose and potentially save the lives of thousands of severely ill children and babies — within days rather than weeks — with a world-first national genetic testing service launching today. Announcing the groundbreaking new service at the first-ever NHS genomics conference in England, NHS chief executive Amanda Pritchard hailed […]

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NHS England strikes deal on life-saving gene-therapy drug that can help babies with rare genetic disease move and walk

A life-saving drug that can enable mobility in babies and young children suffering from a rare genetic condition will be available on the NHS, chief executive Sir Simon Stevens announced today. Zolgensma, which has a reported list price of £1.79 million per dose and is labelled the most expensive drug in the world, will be […]

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NHS gives cancer patients genetic test to select best treatment

Patients with the cancers will be offered the rapid new test to help decide whether to go ahead with treatment, opt for a lower dose or use a different method of tackling tumours. While most patients undergoing chemotherapy do not suffer sever side effects a small number taking certain drugs called fluoropyrimidines (5-FU and capecitabine) […]

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First patients begin gene therapy treatment for blindness as part of NHS Long Term Plan

The first patients have received a revolutionary new gene therapy that can restore eyesight as part of the NHS Long Term Plan. Babies born with an inherited retinal disorder, known as Leber’s Congenital Amaurosis (LCA), have poor sight which swiftly deteriorates, with many ultimately losing their vision completely in childhood. The life-changing treatment for children […]

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NHS to fund revolutionary treatment for blindness in children

A revolutionary new gene therapy which restores sight will be provided by the NHS, chief executive Simon Stevens has announced today. Babies born with inherited retinal dystrophies disorder have poor sight which swiftly deteriorates, with most losing their vision completely in childhood. Until now no treatment has been available. The life-changing treatment for children and […]

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