bache, iben – University of Copenhagen

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Department of Cellular and Molecular Medicine > icmm-staff > bache, iben

Half-time Associate Professor at Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen (UC) and half-time Senior Registrar (Afdelingslæge) at Kromosomlaboratoriet, Department of Clinical Genetics, Rigshospitalet (DCG, RH).

Primary research area
Basic and clinical research within cytogenetic disorders.

Current Research
I combine basic and clinical research within cytogenetic disorders taking advances of my dual employment at Wilhelm Johannsen Centre, Department of Cellular and Molecular Medicine and at Kromosomlaboratoriet, Department of Clinical Genetics, Rigshospitalet.

One main research field is to identify new disease genes and loci by studying carries of constitutional chromosomal abnormalities. We use two main strategies: 1) Cloning of the chromosomal breakpoints involved in balanced inversions and reciprocal translocations for the identification of genes associated with many different phenotypes and 2) pheno-/genotype studies of patients with overlapping copy number variations (CNV) detected by array CGH. These two approaches are also used successfully in combination. Currently we are studying genes associated with various neurocognitive disorders and with a number of rare congenital syndromes e.g. Nail Patella and Moebius syndrome.

Another main research area is to increase knowledge relevant for genetic counseling of families with cytogenetic disorders. For example: what is the phenotypic spectrum of specific recurrent CNVs? What predispose to the occurrence of constitutional chromosomal abnormalities?

Please see also: http://icmm.ku.dk/english/research/research_program/genetics/

Collaborators
All clinical genetic departments in Denmark.
Jan Hansen, Dansk Cytogenetisk Centralregister 
Ad hoc collaboration with cytogenetic laboratories worldwide for specific disorders/rearrangements.