Iben Bache

Iben Bache serves as half-time Associate Professor at the Department of Cellular and Molecular Medicine, University of Copenhagen, and half-time Senior Registrar at the Department of Clinical Genetics, Rigshospitalet. Her dual appointment enables integrated basic-clinical research within the Faculty of Health and Medical Sciences, focusing on chromosomal rearrangement studies to identify disease mechanisms for late-onset disorders.

Her educational background includes:

• Medical Doctor (1999), Faculty of Health Sciences, University of Copenhagen
• PhD (2007), Wilhelm Johannsen Center, University of Copenhagen
• Medical Specialist in Clinical Genetics (2013), Rigshospitalet

Dr. Bache's primary research examines germline chromosomal rearrangements in 6,345 Danish carriers to identify disease genes and mechanisms for hypertension, obesity, cancer, and reproductive difficulties. She collaborates with the Novo Nordisk Foundation Center for Basic Metabolic Research and oncology departments at Rigshospitalet, utilizing constitutional chromosomal rearrangements to discover candidate genes and regulatory elements. Her work has defined critical regions for male fertility and characterized variable phenotypes in genetic disorders like TAB2 and CNTNAP2 mutations.

Recent publications demonstrate strong focus on prenatal genetic applications, chromosomal mosaicism, and neurogenetic disorders. Her research employs whole-genome sequencing, cell-free fetal DNA analysis, and cohort studies to advance understanding of genetic contributions to pregnancy loss, congenital abnormalities, and neurological conditions.

As an active member of professional organizations, she serves on the Danish Cytogenetic Central Registry Board, European Cytogenetics Association, and European/American Societies of Human Genetics. She referees for journals including European Journal of Medical Genetics and Clinical Genetics.

Dr. Bache supervises three PhD, two master's, and two bachelor students while serving as non-official supervisor for eight additional PhD candidates. Her grant portfolio includes principal investigator roles with Brødrene Hartmanns Fond, The Lundbeck Foundation, and Danish Cancer Society. She leads the postgraduate Cytogenetics course for clinical genetics trainees and contributes to medical student education in genetics.

Her laboratory work centers on the Medical Genetics Program within the Department of Cellular and Molecular Medicine, maintaining the comprehensive carrier database that serves as foundation for multiple ongoing projects including hypertension and obesity genetics research.