NHS patients with sickle cell disease will be able to benefit from a groundbreaking gene-editing treatment that offers the prospect of a cure for the condition. The one-off gene therapy, known as exagamglogene autotemcel (or ‘exa-cel’), has been approved for use on the NHS in England from today (Friday 31 January) by the National Institute […]

Hundreds of potential kidney donors of Black African and Black Caribbean heritage can now get a simple blood test to help reduce the risk of kidney failure. The test is part of national genetic testing available on the NHS and will help identify if potential donors carry genes that mean they have a high risk […]

Hundreds of patients with a rare genetic condition that causes rickets and severe bone and dental problems can now receive a “life-changing” new therapy on the NHS in England. Targeted drug burosumab has been shown to help transform the lives of adults with an inherited condition that leads to low levels of the mineral phosphate […]

Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England. The pioneering study aims to identify conditions such as metachromatic leukodystrophy (MLD) in babies sooner, and could enable hundreds to benefit from […]

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 […]