Fellowship Holders since 1986
The Spina Bifida Foundation sponsors scientific research for the prevention and cure of neural-tube defects. The projects are funded on a yearly basis, often between two and four years each. Below is an overview of the students and projects funded by the CDI and The Bo Hjelt Foundation for Spina Bifida in memory of Madeleine Hjelt from 1990 until today.
List of Services
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Papastergios, EvangelosList Item 1
(2017; Supervisor: Professor Andrew Copp) – Role of integrin receptors in neurulation and neural tube defects.
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Molè, MatteoList Item 2
(2012; Supervisor: Professor Andrew Copp) – How does the neural plate bend and what goes wrong leading to spina bifida?
Dr Molè investigated the ways in which the cells of the developing neural tube become specialised and change their position, enabling the neural tube to close. His most recent work (paper in preparation) identified an important role for the protein integrin-b1 in neural tube closure, as mice lacking this protein develop spina bifida.
Funded by CDI for 3 years.
Location: Institute of Child Health, University College London, UK
Duration: 2012–2015
PhD thesis: Matteo Molè, (expected completion date: 2015)
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Bouwland-Both, Marieke I.List Item 3
(2009; Supervisor: Régine Steegers-Theunissen) – Identification of folate related mechanisms induced by Fumonisin in the pathogenesis and prevention of neural tube defects by advanced epigenetic techniques.
Dr Bouwland-Both investigated the role of factors that alter gene activity (epigenetics) in the control of growth of the fetus and development of young children. One study found associations between methylation of certain genes and spina bifida.
Funded by CDI for 4 years.
Duration: 2009–2012
Thesis published in 2013
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Obermann-Borst, Sylvia A.
(2005; Supervisor: Régine Steegers-Theunissen) – Identification of the role of the oxidative pathway in the pathogenesis and prevention of congenital heart disease by advanced nutrigenomic, genomic and proteomic tools.
Dr Obermann-Borst studied the influence of genes, folic acid and other environmental factors on the risk of heart defects in the human fetus. Alterations in gene function due to methylation (epigenetics) was particularly studied, suggesting that life-style may affect the way genes function.
Funded by CDI for 3 years.
Duration: 2005–2008
Thesis published in 2011
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Smedts, H.P. Dineke
(2005; Supervisor: Régine Steegers-Theunissen) – Identification of the role of the oxidative pathway in the pathogenesis and prevention of congenital heart disease by advanced nutrigenomic, genomic and proteomic tools.
Dr Smedts investigated the role of blood factors, including vitamins, and related genes in causing heart defects in the human fetus. Both dietary and genetic factors increasing the risk of fetal heart defects were discovered.
Funded by CDI for 3 years.
Duration: 2005–2008
Thesis published in 2010
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van Driel, Lydi M.
(2005; Supervisor: Régine Steegers-Theunissen) – Identification of the role of the oxidative pathway in the pathogenesis and prevention of congenital heart disease by advanced nutrigenomic, genomic and proteomic tools.
Dr van Driel identified factors that increase the risk of heart defects in the human fetus during pregnancy. These include genetic factors, vitamin B12 and obesity. This research provided evidence for an important role of epigenetic factors (gene methylation) in fetal heart defects.
Funded by CDI for 3 years.
Duration: 2005–2008
Thesis published 3/11 2009
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Bliek, Bert
(2003; Supervisor: Régine Steegers-Theunissen) – The application of proteomics in the investigation of the pathogenesis and prevention of spina bifida.
Dr Bliek studied the role of genetic factors and proteins, and their interaction with folates, in humans with cleft lip and palate, to determine what may cause these birth defects.
Partially funded by CDI.
Duration: 1/10 2003 – 1/6/2004
Thesis published in 2010
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Groenen, Pascal
(2000; Supervisor: Régine Steegers-Theunissen) – The biochemistry of body fluids and the antenatal condition of the fetus with spina bifida.
Dr Groenen investigated the association of blood factors, including inositol, glucose and zinc, in women at high risk of pregnancy affected by NTD. Amniotic fluid was also studied, and genetic risk factors were evaluated for a role in causing NTDs.
Partially funded by CDI.
Duration: 2000
Thesis published in 2003
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van der Molen, Els F.
(2000; Supervisor: Tom Eskes) – Disturbed homocysteine metabolism, endothelial dysfunction and placental vasculopathy.
Dr van der Molen studied factors that affect homocysteine levels in pregnancy including folic acid, and genes involved in folate metabolism. This research was particularly focused on cells lining the blood vessels in the fetus and placenta.
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Brouwer, Ingeborg A.
(1999; Supervisor: Régine Steegers-Theunissen) – Folic acid, folate and homocysteine: human intervention studies.
Dr Brouwer studied the role of folic acid, and folate-containing foods, for their ability to lower homocysteine in humans. This demonstrated the optimal diet and supplements for women to take, in order to keep homocysteine to low levels.
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van der Put, Nathalie M.J.
(1999; Supervisor: Tom Eskes) – Homocysteine, folate and neural tube defects. Biochemical and molecular genetic analysis.
Dr van der Put discovered that a common variant of the gene MTHFR predisposes to NTDs and high homocysteine levels in human populations. She identified two different variants of MTHFR that cause increased risk, and published an important paper in which the world’s literature on this subject was brought together, to enable an overall conclusion. This study (1997) is one of the most important pieces of research in the MTHFR field ever conducted.
Theses published in 1999
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Wouters, Maurice G.A.J.
(1996; Supervisor: Tom Eskes) – Recurrent miscarriages and hyperhomocysteinaemia.
Dr van Aerts conducted research into the role of elevated homocysteine in NTDs, using rats in experimental studies. He found that homocysteine is toxic for the fetus but does not itself cause NTDs. He also carried out pioneering research into the ways that cells inter-convert (metabolise) folates, demonstrating which enzymes are active when the neural tube is closing.
Theses published in 1995
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Steegers-Theunissen, Régine
(1993; Supervisor: Tom Eskes) – Homocysteine, Vitamins and neural tube defects.
Prof Steegers-Theunissen has contributed to many fields of pregnancy health and birth defects research, with more than 260 papers published. Early work identified elevated homocysteine levels as a risk factor for NTDs and other fetal/pregnancy defects. The role of folic acid in lowering homocysteine was demonstrated through a clinical trial, and the first studies were undertaken on inositol levels in pregnancies affected by NTDs. The importance of folic acid has been shown in other conditions, including fetal heart defects and infertility. Genetic and epigenetic work has revealed how NTDs and other birth defects may arise in human populations. Dietary lifestyle is now an active area of research to improve health and outcomes in pregnancy. Prof Steegers-Theunissen has supervised much of the research carried out by later Bo Hjelt Foundation Fellows (see below).
Theses published in 1993
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Pim N.N. Mooij:
(1992; Supervisor: Tom Eskes) – Vitamins, folate and reproduction: a study in humans and animals.
Dr Mooij studied the role of vitamins and deficiencies in relation to human and animal NTDs. Vitamin deficiency was not found to be a common feature of women who had pregnancies affected by NTD. Rather it was concluded that folic acid supplements may overcome a folic acid shortage in the mother caused by a metabolic disorder.
Theses published in 1992