Iben Bache

Primære forskningsområder

My research interest is to identify disease genes and mechanisms for late onset disorders by studying germline chromosomal rearrangements in carriers collected as part of my research employment at Department of Cellular and Molecular Medicine from 2001 and as part of my clinical employment at the Department of Clinical Genetics, Rigshospitalet from 2009.

Mapping of germline chromosomal rearrangements in patients with congenital diseases is a classical strategy to identify disease genes and their regulatory elements. This strategy has only sporadically been used for studying genes and mechanisms involved in later onset disorders because knowledge about a germline chromosomal rearrangement and a later onset disorder are seldom present at the same time. We have therefore re-examined all Danish carriers of a constitutional chromosomal rearrangement by questionnaires and registries. The cohort is continuously supplemented with new carriers resulting in a patient-database of currently 6345 carriers. This cohort has been important for several research projects e.g. for describing a new X-linked syndrome, defining risk and guidelines for carriers of a prenatally detected de novo chromosomal rearrangement, identifying an intact chromosome 1 as critical for male fertility, showing the variable phenotype associated with a mutation in TAB2 and the variable penetrance of mutations in CNTNAP2.

Aktuel forskning

My research projects include studies on hypertension, obesity, cancer and reproductive difficulties and they are carried out in collaboration with colleagues at the clinical departments as well as at the university taking advantage of my dual employment. In the hypertension and obesity projects, I collaborate with the Novo Nordisk Foundation Center for Basic Metabolic Research: we have found that a specific gene is associated with hypertension and identified several candidate loci for obesity by studying carriers of chromosomal rearrangements. In collaboration with several medical doctors within oncology and cancer genetics at Rigshospitalet I study cancer patients with germline chromosomal rearrangements to search for candidate genes and regulatory elements. Furthermore, I am mapping chromosomal rearrangements of carriers with infertility to define critical regions for male infertility and to estimate reproductive risks for subgroups.

CV

Current position: half-time Associate Professor at Department of Cellular and Molecular Medicine, University of Copenhagen and half-time Senior Registrar at Department of Clinical Genetics, Rigshospitalet. I combine basic and clinical research within cancer and cytogenetic disorders taking advances of this dual employment.

Education
2013 Medical specialist in Clinical Genetics, Department of Clinical Genetics, Rigshospitalet
2007 PhD at the Wilhelm Johannsen Center (WJC), Faculty of Health Sciences, University of Copenhagen
2001 Permission to practice independently as a physician
1999 Medical Doctor, Faculty of Health Sciences, University of Copenhagen

Previous positions
2009-2013 Specialist training in Clinical Genetics
2007-2009 Post.doc., WJC, ICMM, Faculty of Health Sciences, University of Copenhagen
2007-2007 Introductory position in Clinical Genetics at Kennedy Centret
2001-2007 Research assistant at WJC, Faculty of Health Sciences, University of Copenhagen
2001-2001 Resident, Gynaecological/Obstetrical department, Hvidovre Hospital
1999-2001 Resident (turnus), Københavns Amt
1996-1997 One year scholarship, Bartholin Instituttet. Research field: Type 1 diabetes
1995-1999 Research assistant at the Danish Cancer Society and Statens Serum Institut

Scientific meetings: Participated with poster or oral presentation at European Human Genetic Conference, European Cytogenetic Conference, Course in Medical and Experimental Mammalian Genetics and the Danish Dysmorphology Meetings. 

Memberships and committees: Board Member of the Danish Cytogenetic Central Registry. Member of the national committee for prenatal microarray of the Danish Society of Medical Genetics and for the prenatal microarray and the preimplantation genetic test teams at Department of Clinical Genetics, Rigshospitalet. Member of the quota 2 committee for Medicine at the University of Copenhagen. Member of the European Cytogenetics Association, and the European and American Societies of Human Genetics.

Referee for scientific journals: including European Journal of Medical Genetics, Cytogenetic and Genome Research, Clinical Genetics, Prenatal Diagnosis.

Grants: As principle investigator: Brødrene Hartmanns Fond, The Lundbeck Foundation and the Danish Cancer Society and collaborator on several grants.

Teaching and supervisor: Medical Genetics for medical students, University of Copenhagen. Course leader for the postgraduate course in Cytogenetics for medical doctors in specialist training for Clinical Genetics. Pre- and postgraduate clinical education at Department of Clinical Genetics, Rigshospitalet. Supervisor for three PhD-, two master- and two bachelor students plus non-official supervisor for eight PhD students. Member of the steering group of the Graduate Program for Cellular & Genetic Medicine.