How has the Bo Hjelt Foundation assisted research in Spina Bifida?

From 2012

The Bo Hjelt Foundation has sponsored the research of Professor Andrew Copp, Institute of Child Health, University College London, UK. Research findings include:

  • Some children with Spina Bifida carry ‘mutations’ in genes that determine how folate is handled in the mitochondria (the cell’s power house).
  • Children with a particularly severe type of Spina Bifida have defects in genes that determine how the embryo’s body is first shaped, in preparation for the neural tube to close.
  • In some cases, Spina Bifida is not prevented by folic acid, whereas another vitamin-like substance, called inositol, can prevent some of these cases.
  • A clinical trial – PONTI (Prevention of Neural Tube Defects by Inositol) – is underway in UK to test whether inositol might be a new, effective way to prevent Spina Bifda, alongside folic acid

From 2000

The Bo Hjelt Foundation has sponsored the research on Spina Bifida of Professor Regine Steegers-Theunissen, Department of Obstetrics and Gynaecology, and Clinical Genetics, Erasmus MC, University Medical Center in Rotterdam, Netherlands. This has led to the following results:

  • An increased maternal homocysteine level , as a more sensitive marker of the folate and vitamin B12-status, 2-3 fold increases the risk of Spina Bifida.
  • Maternal deficiencies of other nutrients, such as inositol, zinc and other B vitamins, are also involved in the risk for Spina Bifida.
  • Chromosomal abnormalities can be induced by a low folate status.
  • Strong maternal adherence to a Mediterranean dietary pattern reduces the risk of a child with Spina Bifida by 70% comparable to the effect of the use of a tablet of 0.4 mg folic acid.
  • The expression of genes into proteins involved in the organ development of the embryo can be influenced by folic acid use.
  • The programming of the MTHFR gene involved in folate metabolism is different in children with Spina Bifida
  • The findings of this research stimulated preconception care developments including the first clinic on “healthy pregnancy” and the first eHealth tool on the mobile phone ( for nutritional and lifestyle coaching of parents-to-be.

From 1989

The Bo Hjelt Foundation sponsored the research on Spina Bifida of Professor Tom Eskes, Professor Emeritus, Department of Obstetrics and Gynecology at University of Nijmegen, Netherlands. This work led to the following results:

  • It is feasible to conduct a preconception cohort study for data collection and blood sampling in the 6th week after conception when Neural Tube Defects (NTDs) develop.
  • The maternal folate levels are comparable in this week in women with and without a previous child with NTD.
  • Maternal folate levels are signifcantly higher after using a folic acid supplement.
  • The MTHFR 677C>T gene polymorphism was the first genetic risk factor identified for Spina Bifida in humans.