Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

In the UK, every 5 days a baby is born with SMA. Treatments are available now. If these treatments are delivered at birth, these newborns have the best chance of living long and healthy lives. If treated later, when they are identified because of the symptoms, they may survive, but with a severe disability. So, for every 5 days that a newborn screening is delayed, a baby in the UK loses the chance of a brighter future.

Newborn baby

Oxford University is initiating a population-based newborn screening study in the Thames Valley. This study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity. We hope that it will pave the way for a national newborn screening that will save about 70 babies/year in the UK from disability

The study, designed by Prof. Laurent Servais and colleagues at the University of Oxford will be run by the STRONG research group in the Department of Paediatrics. For the first time, samples will delivered for DNA extraction and genetic testing at the NHS Oxford Regional Genetics Laboratories at the Churchill Hospital. The study is funded by Novartis Gene Therapies, Roche Products Ltd and Oxford Biomedical Research Centre.

Read the full story on the Department of Paediatrics website

The story is also featured on the University of Oxford website

 

Similar stories

Oxford spinout trials revolutionary bioelectronic implant to treat incontinence

The first participants in a clinical trial of a bioelectrical therapy to treat incontinence have received their “smart” bioelectronic implants.

COVID-19 is a leading cause of death in children and young people in the US

A new study led by researchers at the University of Oxford’s Department of Computer Science has found that, between 2021 and 2022, COVID-19 was a leading cause of death in children and young people in the United States, ranking eighth overall. The results demonstrate that pharmaceutical and public health interventions should continue to be applied to limit the spread of the coronavirus and protect again severe disease in this age group.

Three or more concussions linked with worse brain function in later life

Experiencing three or more concussions is linked with worsened brain function in later life, according to new research.

New blood test could save lives of heart attack victims

Researchers in the Department of Physiology, Anatomy and Genetics (DPAG) have developed a blood test that measures stress hormone levels after heart attacks. The test – costing just £10 – could ensure patients receive timely life-saving treatment.

COVID-19 increased public trust in science, new survey shows

A survey of over 2000 British adults has found that public trust in science, particularly genetics, increased significantly during the pandemic. However, those with extremely negative attitudes towards science tend to have high self-belief in their own understanding despite low textbook knowledge.

Gero Miesenböck awarded 2023 Japan Prize

Congratulations to Professor Gero Miesenböck, Department of Physiology, Anatomy and Genetics (DPAG), who has been awarded the 2023 Japan Prize in the field of Life Sciences, together with Professor Karl Deisseroth, for pioneering work in the field of optogenetics.