Professor Sir Stephen Powis, NHS National Medical Director, said: “This transformative gene therapy is the first of its kind for haemophilia B patients on the NHS and has the potential to significantly improve the lives of hundreds of people by helping to reduce symptoms such as painful bleeds. “It is a one-time therapy that could […]
Thousands of patients with sickle cell disorder are to be offered a new “life-changing” treatment on the NHS from today (3 May), following the approval and roll-out of a new drug that could significantly improve their quality of life. Up to 4,000 people with sickle cell disease in England could benefit from the drug Voxelotor […]
Tens of thousands of people with Jewish ancestry who are more likely to carry a genetic fault that can increase the risk of developing some cancers will receive genetic testing through a new programme announced by the NHS in England today. With plans to identify thousands more people carrying faults in the BRCA genes over […]
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 […]
The NHS is set to introduce a new genetic blood-matching test for thousands living with sickle-cell disease or thalassemia that could reduce painful side-effects of transfusion treatments. As it marks its 75th year, the NHS is to become the first healthcare system in the world to provide blood group genotyping – a detailed DNA analysis […]
A life-saving NHS testing programme is helping to diagnose thousands of people with a genetic condition that increases the chance of developing cancer. The health service has begun rolling out a genetic test for Lynch syndrome, an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic. It is estimated that […]
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 […]
A 19-month-old baby girl called Teddi has become the first child in the UK to receive a life-saving gene therapy treatment for the fatal disorder, metachromatic leukodystrophy (MLD). The revolutionary gene therapy, known by its brand name Libmeldy®, has a list price of £2.8 million and was the most expensive drug in the world when […]
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 […]