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 […]

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 […]