Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SAFE: Special Non-Invasive Advances in Foetal and Neonatal Evaluation Network

Abstract
The establishment of non-invasive markers for prenatal diagnosis and neo-natal screening is a very important research goal. Current invasive procedures have (1)a significant risk of induced abortion (1-2%) or maternal injury and (2) considerable discomfort and psycological distress. Currently around 5 % of pregnant women in the developed world undergo invasive prenatal diagnosis procedures, mainly due to an increased risk for foetal chromosome abnormalities(such as trisomy 21 Down syndrome). In populations with a high penetrance of an inherited genetic disorder, such as the hemoglobinopathies, cystic fibrosis or Tay Sachs syndrome, it may be advantageous to determine the genotype early in life (neonates), as this will alert individuals, who are found o be carriers of the risk of having an affected child.
The transplacental passage of foetal cells into the maternal circulation is now well established, and a number of studies have been undertaken in order to isolate these rare foetal cells for prenatal diagnostic purposes. In spite of the technical problems imposed by the scarcity of these foetal cells, substantial progress has been made by individual research groups in Europe. There is now an urgent need to integrate these fragmented and diverse activities into a coherent strategy for non-invasive prenatal diagnosis.
The recent discovery of relatively abundant quantities of cell free DNA in maternal plasma and serum has opened a new avenue for the prenatal diagnosis of the latter group of genetic disorders as well as the determination of the foetal RhD genotype in pregnancies at risk for HDN (haemolytic disease of the foetus and newborn). In addition elevations in the concentration of the new found molecular analyte may be indicative of pregnancies bearing an aneuploid foetus or those at risk for pregnancy related disorders such as preterm labour or preeclampsia. This opens the possibility for new screening tools.
The advent of high throughput gene-CHIP technology will facilitate effective screening programs for common inherited genetic disorders. Thir will alert individuals to the possibility of having an affected foetus if the partner has a certain genetic constellation; a frequent dispensation in certain populations. The program will create a leading European Network of Excellence in the area of non-invasive prenatal diagnosis and neonatal screening.
Lokale Teilprojektleitung:
Sedlmayr Peter
Laufzeit:
01.03.2004-28.02.2009
Programm:
EU (FP-6)
EU-Projektinstrument
Network of Excellence (NoE)
Art der Forschung
Angewandte Forschung
Mitarbeiter*innen
Sedlmayr, Peter, Projektleiter*in
Beteiligte MUG-Organisationseinheiten
Lehrstuhl für Zellbiologie, Histologie und Embryologie
Universitätsklinik für Frauenheilkunde und Geburtshilfe
Projektpartner
All India Institute of Medical Sciences, Indien
Kontaktperson: Madhulika Kabra;
Alma Mater Studiorum-Universita di Bologna Dipartimento di Medicina Interna Cardioangiologia Epatologia, Italien
Kontaktperson: Giovanni Romeo;
American Hospital of Paris, Frankreich
Kontaktperson: Jean-Marc Costa;
Charles University Prague, 2nd Medical Faculty, Tschechische Republik
Kontaktperson: Iliona Hromadnikova;
Danek Gertner Institute of human genetics sheba medical center, Israel
Kontaktperson: Esther Guetta;
Department of Clinical Chemistry/University Medical Center Nijmegen , Niederlande
Kontaktperson: Dorine Swinkels;
Dept. of Medical Genetics/Athens University School of Medicine , Griechenland
Kontaktperson: Ariadni Mavrou;
Dipartimento di Scienza della Cognizione e della Formazione/Università degli Studi di Trenti (DISCOF) , Italien
Kontaktperson: Lucia Savadori;
Ecole Pratique des Hautes Etudes, Frankreich
Kontaktperson: Etienne Mullet;
Estonian Biocentre (EBC), Estland
Kontaktperson: Anderas Metspalu;
Fondazione Centro San Raffaele del Monte Tabor (FCSR), Italien
Kontaktperson: Laura Cremonesi;
Georg-August-University Goettingen/Bereich Humanmedizin , Deutschland
Kontaktperson: Tobias J. Legler;
Helsinki University, Finnland
Kontaktperson: Jim Schröder;
Hospital Universitario Central de Asturias, Spanien
Kontaktperson: Francisco Alvarez;
Imperial College London, Großbritannien
Kontaktperson: Nicolas M. Fisk;
IMSTAR SA, Frankreich
Kontaktperson: KhuongTruong;
Institut National de Sante et Recherche Medicale, Frankreich
Kontaktperson: Patricia Paterlini;
Institute of Genetics and Biophysics "A. Buzzati Traverso", Italien
Kontaktperson: Maurizio D'Esposito;
Karolinska Institut, Schweden
Kontaktperson: Elisabeth Blennow;
KELLANTIS S.A.R.L, Frankreich
Kontaktperson: Philippe Cornet;
King's College London, Großbritannien
Kontaktperson: Theresa Marteau;
Leon Kozminski Academy of Entrepreneurship and Management, Polen
Kontaktperson: Tadeusz Tyszka;
Lund University Hospital Blood Centre, Schweden
Kontaktperson: Martin Olsson;
Meta Systems GmbH, Deutschland
Kontaktperson: Andreas Plesch;
Microbiology Research Centre Holland, Niederlande
Kontaktperson: Jan Schouten;
National Blood Authority, Großbritannien
Kontaktperson: Geoff Daniels;
Oxford Brookes University, Großbritannien
Kontaktperson: William Clocksin;
PALM Microlaser Technologies AG, Deutschland
Kontaktperson: Renate Burgemeister;
Rigshospitalet University of Copenhagen, Dänemark
Kontaktperson: John Philip;
Sanquin Blood Supply Foundation, Niederlande
Kontaktperson: Ellen van der Schoot;
Statens Serum Institut, Dänemark
Kontaktperson: Michael Christiansen;
Statistik Dr. M. Buser, Schweiz
Kontaktperson: Mauro Buser;
The Cyprus Institute of Neurology and Genetics, Zypern
Kontaktperson: Marina Kleanthous and Phillipos C. Patsalis;
The Genetic interest group, Großbritannien
Kontaktperson: Alastair Kent;
The open University Centre for education in Medicine, Großbritannien
Kontaktperson: Janet Grant;
The Rare Chromosome Disorder Support group, Großbritannien
Kontaktperson: Prisca Middlemiss;
Universitat Rovira i Virgili, Spanien
Kontaktperson: Ciara O'Sullivan;
University College, London, Großbritannien
Kontaktperson: Lyn Chitty and Charles Rodeck;
University Court of the University of Aberdeen (UNIABDN), Großbritannien
Kontaktperson: Stan Urbaniak;
University of Bari, Italien
Kontaktperson: Edoardo Di Naro;
University of Basel, Schweiz
Kontaktperson: Sinuhe Hahn;
University of Bristol, Großbritannien
Kontaktperson: Andres López Bernal and Peter Soothill;
University of Copenhagen, Dänemark
Kontaktperson: Lars Larsen;
University of Perugia, Italien
Kontaktperson: Gian Carlo Di Renzo;
University of the West fo England, Bristol, Großbritannien
Kontaktperson: Neil Avent;
University of Trieste: Higher Education in Clinical Engeneering(SIIC-HECE) c/o DEEI, Italien
Kontaktperson: Lucia Savadori;
University of Warwick, Großbritannien
Kontaktperson: Kate Hughes, Simon Bailey;
University of Zurich, Schweiz
Kontaktperson: Michael Siegrist;
Up-to-date Informatik AG, Schweiz
Kontaktperson: Jürg Rohrer;
Zhongshan Medical College/Sun Yat-Sen University , China
Kontaktperson: Yiming Wang;
Gefördert durch
Europäische Kommission, Rue de la Loi, Brussels, Belgien
Publizierte Projektergebnisse
> Verification of the genomic identity of candidate ... Chimerism. 2011; 2(3):63-64
> Microchimerism. Implications for immunology and pr... Seminar; NOV 29, 2010; Wuxi, CHINA. 2010.
> Single cell analysis for non-invasive prenatal dia... Proceedings of the 1st Central-Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis. 2010; 22-28.-1st Central-Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis; MARCH 19, 2010; Budapest, HUNGARY. (ISBN: 978-963-9129-73-3 )
> Microchimerism: implications for immunology and pr... AMER J REPROD IMMUNOL. 2010; 64: 6-6.-. 2nd International Conference on Reproductive Immunology; NOV 28 - DEC 2, 2010; Shanghai. CHINA.
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