Isabel Filges

PD 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


National Collaborations
- Prof.Dr. S.Tercanli and Dr.A. Kang, Ultraschallpraxis Freie Strasse, Basel, and University of Basel
- Prof.Dr. P. Tschopp, Evolutionary Biology, University of Basel
- Prof. Dr. B. Elger, Institute for Biomedical Ethics, University of Basel
- PD D. Bartholdi, Human Genetics, Inselspital Bern

International Collaborations
- Profs.JM Friedman, JG Hall and S.Langlois, University of British Columbia
- Dr. P. Kasparek, Internation Mouse Phenotyping Consortium
- Dr. A. Benmerah, University Paris Decartes
- Prof. R.Giles, University Medical CenterUtrecht
- Prof. WB Dobyns, Integrative Brain Research Center, Seattle
- Prof. A. Slavotinek, UCLA
- Prof.R. Chaoui, Praxis für Pränataldiagnostik, Berlin

Ongoing Research Projects

  • intellectual disability/congenital malformations
    • The genetic etiology of Moebius/Carey-Fineman-Ziter sydrome
  • lethal fetal disorders and malformation syndromes
    • PIGW as a candidate gene for Fryns syndrome
    • The implication of KIF4A in hydrocephalus and intellectual disability
    • Impact of SMAD3 mutations on lower jaw development/Agnathia-Otocephaly
  • 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 ---