Research Focus

Endocrinology, Metabolism & Developmental Disorders

Area of Research

Clinical genomics of congenital developmental disorders

• Massively parallel sequencing for gene discovery in lethal fetal disorders
• The Fetal-ome landscape
• Phenotype-genotype correlations and the natural history of arthrogryposis

National Collaborations

• Prof. Dr.med. B Mosimann, Obstetrics and Prenatal Medicine, University of Basel
• Prof.Dr. P. Tschopp, Evolutionary Biology, University of Basel
• Prof. Dr. B. Elger, Institute for Biomedical Ethics, University of Basel
• Prof.Dr. S.Tercanli and Dr.A. Kang, Ultraschallpraxis Freie Strasse, Basel, and University of Basel
• Prof. Dr.med. A. Rauch, Medical Genetics, University of Zürich
• Prof. Dr.med. C.Zweier, Human Genetics, Inselspital Bern

International Collaborations

• Prof. T. Attié-Bittach, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, ERN-Ithaka, Fetal Medicine working group
• Prof. P. Robinson, Professor and Roux Chair, Genomics and Computational Biology, The Jackson Laboratory for Genomic Medicine , Human phenotype ontology
• International consortium for arthrogryposis and fetal akinesia
• Profs.JM Friedman, JG Hall and S.Langlois, University of British Columbia
• Prof. N. Dahan-Oliel, Shriners Hospitals for Children-Canada
• Prof. Dr. J.I.P. de Vries , Prenatal Arthrogryposis expert centre, Amsterdam/UMC

• Congenital malformations and developmental disorders
  • Gene identification using novel genomic technologies
  • Introduction of genomic technologies into clinical practice
• Fetal disorders and malformation syndromes
  • Phenotype-genotype correlations and evolving phenotypes in fetal anomalies
  • The implication of KIF4A in hydrocephalus and intellectual disability
  • Phenotype-genotype correlations and the natural history of (prenatal) arthrogryposis
• predispositions to recurrent aneuploid miscarriages