Telephone:+31 20 444 2881
Department VUmc:Department of Clinical Chemistry, Metabolic Unit
Position:Clinical Biochemical Geneticist


Blom, H



Name  : Henk Blom
Room nr: PK 1X 018 
VUmc unit: Clinical Chemistry, Metabolic Unit
Department : Department of Clinical Chemistry, Metabolic Unit 
Position  : Clinical Biochemical Geneticist
Email  : h.blom@vumc.nl
Telephone : +31 (0)20-444 28 81
Address : Metabolic Unit, VU University Medical Centre Amsterdam
De Boelelaan 1117, 1081 HV Amsterdam


After finishing his doctoral Chemistry at the university of Nijmegen in 1985, Henk Blom has finished his PhD in Medicine in 1988 at the Department of Gastroenterology and Liver Diseases at the University Hospital in Nijmegen.
He has been postdoctoral Fogarty Fellow, Human Genetics Branch, NICHD, National
Institutes of Health, Bethesda, Maryland, USA from 1989 till 1990.
From 1990 till 2006 he has been a staff member and research coordinator at the Laboratory of Pediatrics and Neurology, University Hospital in Nijmegen.
Since 2007 he is staff member and vice head of the Metabolic Unit at the Department Clinical Chemistry, VU University Medical Centre in Amsterdam. His tasks include
1. Supervisor Diagnostics Group Metabolites and Proteins
2. Clinical Biochemical Diagnostics of Inborn Errors of Metabolism
3. Head One-Carbon Research Group
4. Theme leader Vascular Function of ICaR-VU (since 2008)

Research is imbedded in the research institutes ICaR-VU and ICEN. Main research lines are:
a. Inborn errors of metabolism
b. Defects of homocysteine and folate metabolism
c. Associations between elevated homocysteine and risk for cardiovascular disease
d. Molecular basis of hyperhomocysteinemia
e. Relation between disturbed homocysteine metabolism and risk for obstetric complications
f. Folate metabolism and methylation in neural tube defects and congenital heart disease
g. Development LC-ESI-MS/MS applications
h. Development of new diagnostic applications in inborn errors of metabolism


Abnormal folate metabolism and neural tube defects
Hyperhomocysteinemia and risk for neurological disorders


Franke B, Vermeulen SHHM, Steegers-Theunissen RPM, Coenen MJ, Schijvenaars MMVAP, H Scheffer, M den Heijer, HJ Blom. An association study of 45 folate-relataed genes in spina bifida: involvement of cublin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res A Clin Mol Teratol, 2009; 85: 216-26.

KA Burren, D Savery, V Massa, RM Kok, JM Scott, HJ Blom, AJ Copp, ND Greene. Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet, 2008; 17: 3675-85. 

IJ van der Linden, SG Heil, M van Egmont Petersen, HW van Straaten, M den Heijer, HJ Blom. Inhibition of methylation and changes in gene expression in relation to neural tube defects. Birth Defects Res A Clin Mol Teratol, 2008; 82: 676-83

JW Muntjewerff, H Gellekink, M den Heijer, ML Hoogendoorn, RS Kahn, RJ Sinke, HJ Blom. Polymorphisms in catechol-O-methyltransferase and methylenetetrahydrfolate reduction in relation to the risk of schizophrenia. Eur Neuropsychopharmacol, 2008; 18: 99-106.

HJ Blom, GM Shaw, M den Heijer, RH Finnell. Neural tube defects and folate: case far from closed. Nat Rev Neuroscience, 2006; 7: 724-31.

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