Genomics

First-ever therapy for rare genetic disease in babies to save lives on the NHS

Babies and toddlers with a rare and fatal genetic condition can now receive a life-saving treatment on the NHS for the first time. Sebelipase alfa (Kanuma®), an enzyme replacement therapy, will become the first treatment available on the NHS for Wolman disease, a condition which presents in babies and children under two years old. Following […]

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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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