Top Cardiff researchers awarded grants to help sick babies and children | Action Medical Research

Top Cardiff researchers awarded grants to help sick babies and children

3 October 2012

Two leading research teams in Cardiff have been given more than £280,000 in grants by the UK children’s charity Action Medical Research, to carry out studies which aim to help reduce the suffering of sick babies and children.

The charity is celebrating its anniversary in 2012 by marking 60 years of funding which has led to some key scientific breakthroughs. In total the new grants have been awarded to research institutes at universities and hospitals across the country, with more than £1.2 million investment across nine different projects.

Research teams at Cardiff University have been awarded funding for projects investigating the devastating inherited disease Smith-Lemil-Opitz syndrome, and also for thyroid function screening during pregnancy, as babies born to mothers with suboptimal thyroid function can experience problems with development, IQ and memory.

None of the charity’s work would be possible without the generosity of people who make donations, raise funds and take part in events, as well as our trust and corporate partners.

Dr Caroline Johnston, Research Evaluation Manager, says: “We know that medical research can save and change children’s lives. Our gold standard scientific review process ensures that we only fund the best doctors and researchers in children’s hospitals, specialist units and universities across the UK and we are delighted to announce these grant awards.”

The full details of the grants awarded are as follows:

Developing treatments for Smith-Lemli-Opitz syndrome, £173,809 awarded over three years to researchers at Cardiff University.

Smith-Lemil-Opitz syndrome (SLOS) is a rare genetic disorder affecting one in 50,000 babies who are born alive. However, numbers are likely to be much higher as 80 per cent of these babies are thought to die during pregnancy. Severe SLOS results in the baby being born with defects such as cleft palate, microcephaly (small head), extra or webbed toes or fingers, and failure to grow normally. Many of these babies born with severe SLOS often die young, usually as a result of heart problems. Children with SLOS often have learning difficulties and all have autistic spectrum disorders.

Thyroid function screening during pregnancy: benefits for child development? £107,853 awarded over two years to researchers at Cardiff University.

In hypothyroidism the thyroid gland does not produce enough hormones, slowing metabolism and producing symptoms such as tiredness and weight gain. Diagnosis is confirmed by blood tests and treated by thyroid hormone replacement. If patients become pregnant, treatment is adjusted to ensure optimum hormone levels in mother and baby. However, in suboptimal thyroid function (SOT), blood test results are mildly abnormal but the patient experiences no symptoms. If this occurs during pregnancy, the baby may experience adverse effects impacting on future development and memory.

Currently, routine thyroid function screening is not performed during pregnancy, but evidence suggests that children born to mothers with SOT have a lower IQ than children of mothers with normal thyroid function during pregnancy.

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Action Medical Research - the leading UK-wide medical research charity dedicated to helping babies and children - is celebrating 60 years of vital research in 2012. We’ve been funding medical breakthroughs since we began in 1952 and have spent more than £100 million on research that has helped save thousands of children’s lives and changed many more.

Today, we continue to find and fund the very best medical research to help stop the suffering of babies and children caused by disease and disability. We want to make a difference in:

  • tackling premature birth and treating sick and vulnerable babies
  • helping children affected by disability, disabling conditions and infections
  • targeting rare diseases that together severely affect many forgotten children.

But there is still so much more to do. Make 2012 a special year and help fund more life-changing research for some of the UK’s sickest babies and children.

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