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Prof. Dr. med. Stefan Mundlos image

Institute of medical and human genetics

Prof. Dr. med. Stefan Mundlos
molecular and human genetics, cell biology

About the department

The Institute of medical and human genetics at the University Hospital Charite Berlin deals with genetic diseases' causes, mechanisms and treatment. The Institute is a part of the department for Gynecology, Pediatrics and Adolescent Medicine and is one of the largest Charite centres. The critical fact is that the genetic laboratory of the clinic is certified by the German Accreditation Body GmbH. Furthermore, the centre closely cooperates with the Max Planck Institute for Molecular Genetics in researching the molecular mechanisms of skeletal development. Except for this, the investigations of hereditary diseases of connective and bone tissues are carried out on a department basis. In addition, the head of the Institute is a member of German and European research societies and councils. 

The focus of the Institute lies in the accurate diagnosis of hereditary diseases. Special attention is paid to uncovering of causes and mechanisms of congenital malformations. The essential focal point of the clinic is molecular genetics.

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Treatment and diagnostic focus of the department

Diagnostics methods:

  • molecular testing
  • chromosomal testing
  • gene expression testing
  • tumour cytogenetics
  • Spectral karyotyping (SKY) 
  • the FISH analysis

Revealing of genetic disorders:

  • Chronic myeloproliferative disorders (CMPE)
  • Myelodysplastic/myeloproliferative diseases
  • Myelodysplastic syndromes (MDS)
  • Acute myeloid leukaemias (AML)
  • Biphenotypic Acute Leukemias (BAL)
  • B-cell acute lymphoblastic leukaemia (B-ALL)
  • T cell acute lymphocytic leukaemia (T-ALL)
  • Non-Hodgkin Lymphoma (NHL)
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Doctor profile


  • Studied Medicine at the University of Gottingen
  • Studied Medicine at the University of California San Diego
  • Studied Medicine at the University of Marburg
  • Studied Medicine at the Walter and Eliza Hall Institute in Melbourne
  • Studied Medicine at the University of Heidelberg


  • Completed clinical training in Pediatrics and Human Genetics at the University Hospital of Mainz, Germany
  • Research fellow at the Murdoch Institute for Research into Birth Defects in Melbourne, Australia
  • The postdoctoral period at the Department of Cell Biology in Harvard, Boston, USA
  • 1997 Habilitation in Mainz
  • 1999 Nominated for a Professorship in Human Genetics at Heidelberg
  • Director of the Institute for Medical and Human Genetics at the Charite
  • Group leader of the Research Group Development & Disease at the Max Planck Institute for Molecular Genetics
  • 2012-2015 Management, Scientific Advice to the Ministry of Health on the subject

Awards, memberships, publications

  • 2014 Member of Editorial Board, PloS Genetics, UK
  • 2015-2019 Council Member, Human Genome Organization
  • 2017 Panel Member, European Research Council consolidator grants
  • 2019 Member, Review Board Section 4, German Research Foundation
  • Research for rare diseases as part of the National Action Alliance for people living with rare diseases
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