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Medfødte sygdomme

Statens Serum Institut er hjemsted for den danske neonatale screenings biobank. Det er den samling af filterpapirblodprøver, der stammer fra den obligatoriske screening af alle nyfødte i Danmark for 15 forskellige stofskiftesygdomme.

Materiale fra denne bank indgår i en række projekter, der søger at belyse forholdet mellem faktorer (fx inflammation) ved fødslen og senere udvikling af en række kroniske sygdomme. I tilslutning til disse projekter udvikles også både genetiske, proteinkemiske og immunkemiske analysemetoder og nye biomarkører, der baserer sig på filtrerpapirblodprøver som startmateriale, bl.a. baseret på metoder som Whole Genome Amplification, hormon- og metabolitanalyser og multiplex cytokinmålinger.

screening af nyfødte

  • Schizofreni 
  • Cerebral parese 
  • Cytokinprofilering 
  • Genomamplifikation 
  • Asthma 
  • Tidlig fødsel 
  • Pylorusstenose

Publikationer

Nørgaard-Pedersen B, Hougaard DM. Storage policies and use of the Danish
Newborn Screening Biobank. J Inherit Metab Dis. 2007 Aug;30(4):530-6.

Sørensen KM, Jespersgaard C, Vuust J, Hougaard D, Nørgaard-Pedersen B, Andersen PS.
Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems. Genet Test. 2007 Spring;11(1):65-71. PubMed PMID: 17394394.

Hollegaard MV, Sørensen KM, Petersen HK, Arnardottir MB, Nørgaard-Pedersen B, Thorsen P, Hougaard DM.
Whole genome amplification and genetic analysis after extraction of proteins from dried blood spots.
Clin Chem. 2007 Jun;53(6):1161-2. PubMed PMID: 17517589

Hollegaard MV et al.Polymorphisms in the tumor necrosis factor alpha and interleukin 1-beta promoters with possible gene regulatory functions increase the risk of preterm birth.
Acta Obstet Gynecol Scand. 2008;87(12):1285-90. PubMed PMID: 18951205.

Brorsson C et al. A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.
Mol Genet Metab. 2008 Jul;94(3):386-8. Epub 2008 Apr 8. PubMed PMID: 18400535.

Hollegaard MV, Thorsen P, Norgaard-Pedersen B, Hougaard DM.
Genotyping whole-genome-amplified DNA from 3- to 25-year-old neonatal dried blood spot
samples with reference to fresh genomic DNA.
Electrophoresis. 2009 Jul;30(14):2532-5. PubMed PMID: 19639574.

Hollegaard MV, Grauholm J, Børglum A, Nyegaard M, Nørgaard-Pedersen B, Ørntoft T, Mortensen PB, Wiuf C, Mors O, Didriksen M, Thorsen P, Hougaard DM. Genome-wide scans using archived neonatal dried blood spot samples. BMC Genomics. 2009 Jul 4;10:297. PubMed PMID: 19575812; PubMed Central PMCID: PMC2713266.

Hollegaard MV, Grove J, Thorsen P, Nørgaard-Pedersen B, Hougaard DM.
High-throughput genotyping on archived dried blood spot samples.
Genet Test Mol Biomarkers. 2009 Apr;13(2):173-9. PubMed PMID: 19371215.

Vogel I, et al. Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth.
In Vivo. 2009 Nov-Dec;23(6):1005-9. PubMed PMID:20023247.

Stefansson H et al. Common variants conferring risk of schizophrenia.
Nature. 2009 Aug 6;460(7256):744-7. Epub 2009 Jul 1. PubMed PMID: 19571808.

Buttenschøn HN, et al A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. J Neural Transm. 2009 Mar;116(3):381-8. Epub 2009 Jan 13. PubMed PMID: 19139806.

Nyegaard M, et al. CACNA1C (rs1006737) is associated with schizophrenia.
Mol Psychiatry. 2010 Feb;15(2):119-21. PubMed PMID: 20098439.

Steinberg S, et al. Expanding the range of ZNF804A variants conferring risk of psychosis.
Mol Psychiatry. 2010 Jan 5. [Epub ahead of print] PubMed PMID:20048749.

Sidst redigeret 27. august 2010

Kontakt


Klinisk Biokemi og Immunologi
Neonatal Screening og Endokrinologi
David Hougaard
Overlæge, dr. med.

Tlf.:3268 3544