Research at the Institute for Medical Genetics and Human Genetics

The aim of our research is to gain a better understanding of the origins and the pathology of genetic disorders.

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Research at the Institute of Medical Genetics and Humangenetics

Our institute is involved in a rich research program covering topics in clinical genetics, cytogenetics and molecular genetics. We aim to gain a better understanding of the origins and the pathology of diseases which are caused by a genetic disorder. In our research, we combine clinical analysis, molecular genetic analysis and bioinformatics algorithms to develop an understanding of the origins of congenital malformations and the mechanisms of their genesis.

At the MPI for Molecular Genetics in Berlin/Dahlem, the research group Development and Disease examines the molecular mechanisms of skeletal development. Data obtained in vitro and in vivo provide insight into the function of genes during normal and pathological development.

Current research studies at the Institute of Medical Genetic and Human genetics

Past research foci

The Research Group Krawitz of Charité investigated glycosylphosphatidylinositol anchor (GPI-anchor). Defects in the synthesis and maturation of the GPI-anchor and their consequences for GPI-anchored proteins (GPI-APS) represent a class of congenital disorders of glycosylation (CDG) that can cause congenital as well as acquired disorders.

Individuals with a congenital GPI-anchor deficiency are intellectually disabled. Many of them have epilepsies that have to be treated. Individuals with Mabry syndrome, a deficiency of the late anchor synthesis and maturation, have an elevated serum activity of the alkaline phosphatase (hyperphosphatasia). The high value of this lab parameter is not important for the clinical management of the patient. However, the elevated alkaline phosphatase can be helpful in finding the right diagnosis.

In individuals with acquired GPI-anchor deficiencies only blood cells are affected. If red blood cells do completely lack GPI-anchors, then also proteins are missing on the surface that protect these cells from the own immune system. From time to time, the red blood cells are attacked by the immune system and hemoglobin is detectable in the urine (Paroxysmal Nocturnal Hemoglobinuria, PNH). Individuals with PNH can be treated with the antibody Eculizumab. Whether this antibody might also be used to treat congenital GPI-anchor deficiencies is currently being investigated.

Research Focus:

  • identification of pathogenic sequence variants related to GPI-anchor synthesis
  • characterization of GPI-anchor deficiencies
  • Prioritization of Exome Data by Image Analysis (PEDIA-study)

Team:

  • Prof. Dr. med. Dipl.-Phys. Peter Krawitz, group leader
  • Dr. rer. nat. Verena Heinrich, postdoc
  • M. Sc. Alexej Knaus, scientific assistant
  • M. Sc. Miguel Rodriguez de los Santos, PhD student
  • M. Sc. Na Zhu, scientific assistant

Peter Krawitz researches at the Institute for Genomic Statistics and Bioinformatics of the University of Bonn since September 2017.