Health Research Board

Research on the causes and prevention of neural tube defects (NTDs), with special reference to the role of folic acid, is ongoing in the unit. The relationship between folate/folic acid, homocysteine and NTDs was investigated in the early phases of the spina bifida study. The genetic risk factors for NTDs are currently being explored.

What is the Study about?

NTDs are caused when the neural tube, which will become the baby's spine, does not form properly very early in pregnancy. NTDs include spina bifida, anencephaly, encephalocoele and iniencephaly. About 70 babies are born in Ireland every year with spina bifida or other neural tube defects.

We are not sure what causes these malformations, but scientists are studying how the condition might be influenced by what we inherit from our parents, that is, our genes, and how these genes interact with nutritional and environmental factors.
We want to understand why a person is born with spina bifida and the other neural tube defects. This study will help us identify the cause(s) of NTDs and how we might prevent them.

The contract for this research was awarded by the National Institute of Child Health Research and Human Development of the National Institutes of Health of the United States Government and has been ongoing since 1992.

Where is the Study taking place?

It is a national study and is being carried out all over Ireland and Northern Ireland and has also been extended to include England and Wales.

Who is doing the Study?

The study is a joint effort between the Health Research Board, Dublin, Trinity College, Dublin and the National Institute of Child Health and Human Development of the United States of America.

What are genes?

We inherit genes from our parents which decide our physical appearance (for example, our eye colour). We also inherit genes that influence whether we are tall or small, or whether we develop certain conditions or illnesses. It is thought that humans have about 30,000 genes. Our genes are made up of a chemical called DNA.

What is DNA?

To make a person, the body follows a set of instructions. Your body stores these instructions in DNA, which is a spiral shape. Your genes are made up of DNA and it controls everything from the way you look to the way you develop physically and mentally. DNA tells your body how fast your hair will grow and how big your feet will be. It tells your body to put skin on the outside and even tells your brain to grow. It may even tell your body to develop a cleft lip or other conditions.

How will these genes be studied?

By taking a DNA sample from people with spina bifida or encephalocoele and their parents.
Present State of the Study
Recruitment of participants to the study ended in January 2004. Data analysis and publication of research findings is ongoing.

How do I get more information on the Study?

If you would like more information you can contact one of the research team at the links below: