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A groundbreaking research project funded by Newlife Foundation for Disabled Children is investigating a new treatment to help prevent some of the world’s most common birth defects.

The treatment – which uses DNA-boosting nucleotides – could be used in conjunction with folic acid to boost its effectiveness in combating neural tube defects, such as spina bifida, in early pregnancy.

A medical study published today (Friday 9 August) in the journal Brain shows that, when tested in mice, the new treatment reduced the incidence of neural tube defects (NTDs) by 85 per cent. This treatment was also successful in preventing some kinds of NTDs that are currently unresponsive to folic acid.

Newlife Foundation Medical Director Professor Michael Patton said: “This is an important development. Folic acid supplements have been very effective in preventing spina bifida but they have not eliminated the disorder. We need other tools to do that and this research may be the key for the future.”

Research into the treatment, led by Professor Nicholas Greene, has been carried out at the Newlife Birth Defects Research Centre at London’s Institute of Child Health, which works in partnership with Great Ormond Street Hospital for Children NHS Foundation Trust. It is the only dedicated birth defects research centre in Europe.

Professor Patton added: “The Newlife Birth Defects Research Centre was opened last year to look at ways of understanding and preventing birth defects. Professor Green’s work is an exciting discovery which may lead to a reduction in the number of children affected by spina bifida.”

The research team believes the findings could make way for future trials in patients, to investigate whether the same level of prevention can be achieved for human neural tube defects.

NTDs like Spina bifida and anencephaly are among the most common birth defects in the world, affecting around every one in 1,000 pregnancies, with much higher rates in some countries.

Folic acid supplements taken in the very early stages of human pregnancy, when an embryo’s central nervous system is still developing, currently prevent between 20 and 80 per cent of NTDs, depending on geographic region. Folic acid works by helping the embryo’s neural tube to close normally. However, a significant number of NTDs are unresponsive to folic acid supplements.

One reason why folic acid might not always be effective is that a ‘genetic blockage’ can occur in the way folic acid is metabolised, in cells. In such cases, even if folic acid is taken early in pregnancy it is blocked from having the desired effect on the embryo. The new treatment – currently being tested – involves supplementing with ‘nucleotides’, which are needed to make DNA, as cells divide in the growing embryo. Nucleotides can bypass the blockage, ensuring the growth of crucial cells in the embryo.

Previous studies have found that a particular vitamin, Inositol, has a protective effect and this is being tested in a clinical trial. Similar studies are now proposed for the ‘nucleotide’ treatment, and researchers envisage that a single tablet could eventually be developed for women planning a baby, which would contain folic acid and the new protective compounds.

Commenting on the new research, Nicholas Greene, Professor of Developmental Neurobiology, said: “We are still in the early stages of this research, but we hope that these promising results in mice can eventually be replicated with human NTDs. If it is found to be effective, this nucleotide treatment could boost the effects of folic acid and offer expectant mothers an even more reliable safeguard against relatively common defects like spina bifida.”

Prof Greene added: “While we continue our research into this new treatment, it’s important to emphasise that folic acid supplements remain the most effective prevention against NTDs currently available for women who are planning a baby. While we are greatly encouraged by these new findings, I would strongly urge women to continue taking folic acid in its current form until we reach a point where additional supplements might become available.”

Newlife has funded the research in partnership with the Wellcome Trust and the Medical Research Council.

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