Isabel Filges

Prof. Dr. med.
Isabel Filges

Medical Director, Medical Genetics
Head Medical Genetics Diagnostic Laboratory

University Hospital Basel

Phone +41 61 265 36 20



Research Focus

Endocrinology, Metabolism & Developmental Disorders

Area of Research

Clinical genomics of congenital developmental disorders

Approved Research Projects

  • 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. 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. A. Rauch, Medical Genetics, University of Zürich
  • Prof. 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

Ongoing Research Projects

  • 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

Research Team

Dipl. med. Dorothea Wand

Senior Registrar

Phone +41 61 265 36 56


Catherine Savary

Study nurse/Study coordinator

Phone +41 61 265 36 20


Nicole Meier

PhD Candidate

Phone ---