Neural Tube Defects: Research

(asked on 11th October 2017) - View Source

Question to the Department for Business, Energy and Industrial Strategy:

To ask Her Majesty's Government what Government-sponsored research is currently under way in respect of neural tube defect births.


This question was answered on 23rd October 2017

The National Institute for Health Research (NIHR), through its Clinical Research Network, is supporting two studies relating to neural tube defects:

  1. Database Development for Newborn Screening Disorders

A study to develop a genotype-phenotype correlative database for six Newborn Screening Disorders by performing Next Generation DNA Sequencing on a small panel of genes and collecting medical record information from screen positive and clinically affected patients.

  1. Prevention of Neural Tube Defects by Inositol (PONTI)

The study is intended to address the question of whether combined treatment folic acid and inositol is more effective at preventing neural tube defects than folic acid alone.

Research relating to neural tube defect births is also be supported through the Research Councils. Examples of current and recent projects supported by the Medical Research Council (MRC) include:

  • Understanding the role of the Glycine Cleavage System in Neural Tube Defects

This project studies a group of proteins involved in folate handling and looks at their possible involvement in neural tube defects.

  • Investigating the effect of folic acid on the neural tube defect methylome

In many cases, neural tube defects (NTDs) are preventable by the mother taking periconceptional supplements of folic acid. This study is designed to generate a better understanding of the processes of normal and abnormal neural tube development and how folic acid interacts with this.

As Government funders of health research, neither the NIHR nor the MRC allocate funding for specific disease areas. The level of research spend in a particular area, such as neural tube defects, is driven by factors including scientific potential and the number and scale of successful funding applications. MRC welcomes high quality applications in any disease area.

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