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 […]

A world-first genetic test that could save the hearing of hundreds of babies each year has been developed and successfully piloted in the NHS. Taking just 25 minutes, the bedside machine identifies whether a critically ill baby admitted to intensive care has a gene that could result in permanent hearing loss if they are treated […]

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 […]

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) […]

NHS England is to fund a life-changing treatment for people with rare conditions causing repeated bouts of fever, joint pains and swelling, in an effort to help a small group of people who ‘suffer in silence’. Periodic fever syndromes (PFS) are a group of rare genetic conditions where the person’s immune system overreacts, resulting in […]

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 […]

The NHS in England is providing a new form of DNA test capable of rapidly diagnosing rare diseases for critically ill babies and children, as part of its Long Term Plan to use world leading technologies to improve care for the sickest infants. 80 babies and children have received this new test, with almost half […]

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 […]

Chief Scientific Officer Sue Hill will today (27 April) deliver an overview on how genomics and personalised medicine is set to transform the NHS at a conference in New Orleans. Headlined – Genomics, Data & Personalised Medicine – The UK Experience of Transforming Care for the Future,  the presentation will also explore aspects of the […]

The revolutionary 100,000 Genomes Project has taken another step forward as a new NHS Genomic Medicine Centre (GMC) recruited its first patient to the programme. The ground-breaking 100,000 Genomes Project, launched by the Prime Minister in 2012, will transform diagnosis and treatment for patients with cancer and rare diseases and drive forward improvements in the […]