Research for Rare - Research for rare diseases

Network for Imprinting Diseases

The project investigates imprinting defects, which are a rare cause of genetic diseases. Genomic imprints are gamete-of-origin specific chromatin marks (DNA methylation and histone modifications), which make the two parental alleles functionally different. Errors in imprint erasure, establishment and maintenance lead to aberrant gene expression and disease.

Imprinting defects contribute to several recognizable syndromes and probably to other disorders as well. Whereas most imprinting defects occur without any DNA sequence change (primary imprinting defects), some are the result of a mutation in an imprinting control element (secondary imprinting defects).

Using locus-specific and genome wide genetic and epigenetic studies, we will identify patients who have single or multiple imprinting defects and search for genetic variants in cis-regulatory elements and trans-acting factors involved in genomic imprinting. We will also improve diagnostic tests for imprinting diseases, generate iPS cells for functional and preclinical studies and investigate the interaction of the imprinted chromosomal domain in the interphase nucleus. At the phenotypic level, we will define the clinical spectrum of imprinting defects and compare patients with an imprinting defect with those who have a chromosomal aberration or DNA sequence mutation affecting the imprinted domain.

Prof. Dr. Bernhard Horsthemke
Institut für Humangenetik
Universitätsklinikum Essen
Hufelandstrasse 55
45122 Essen
Tel.: 49 201 723 4556
Fax: 49 201 723 5900