Research concept

The Institute of Human Genetics investigates genetic causes of tumour diseases, the biology of the human genome, and retroviral and other mobile genetic elements in the human genome.

One of the main areas of research is the search for molecular signatures in the blood of patients, especially cancer patients. Those signatures do not analyse individual molecules such as a certain protein or nucleic acid, but complex mixtures of different proteins or nucleic acids. Those signatures can point to the occurrence of certain diseases and can also be used for therapy optimization. The main focus is on the analysis of signatures from microRNAs; short nucleic acids that are particularly suitable as molecular markers due to their high stability in the bloodstream. In particular, microRNA signatures are determined for patients with tumours of the lung, brain tumours, or kidney tumours. In addition to development of tumour-specific microRNA signatures, corresponding signatures are also being developed for neurodegenerative diseases such as Multiple Sclerosis and Alzheimer’s disease. Based on microRNA signatures, specific research projects investigate microRNA-mediated regulatory mechanisms of genes and their clinical significance. Studies on the role of microRNAs are pursued in collaboration with Prof. Andreas Keller and Prof. Hans-Peter Lenhof at the Center for Bioinformatics at Campus Saarbrücken.

Another focus is on the biology and clinical relevance of so-called human endogenous retroviruses, which are an integral part of the human genome, are considered to play a role in different diseases, and whose products may interfere in different cellular processes.

The importance of gene amplification in stem cells and during tumour development is another focus. Gene amplification and its dynamics in different cellular systems as well as their possible functional consequences are investigated using special experimental methods.

The main research areas of the Institute of Human Genetics are described in more detail below. The institue's research is funded by the German Research Foundation (DFG), the German Cancer Aid, or the European Union. In addition, intramural funding is provided by HOMFOR, other funding programmes of Saarland University, and the Hedwig-Stalter Foundation.

Research projects

Genetic and epigenetic factors in spermatogenesis

Dr. rer. nat. Masood Abu-Halima

Analysis of miRNA patterns and their role in spermatogenesis and male fertility is a research focus of the Institute of Human Genetics at Saarland University. One of our particular interests concerns miRNA mediated mechanisms during male infertility. We are evaluating miRNA expression profiles as biomarkers for accurate diagnosis in couples with subfertility and/or infertility undergoing Assisted Reproductive Technology (ART). We identified altered miRNA expression levels in spermatozoa of males with different spermatogenic impairments, in testes of patients showing different histopathological patterns, in extracellular microvesicles (exosomes) of males with subfertility, and in the extracellular vesicles of spent culture media of women undergoing in vitro fertilization. As molecular functions of the miRNAs that are differentially expressed during spermatogenesis are little investigated so far, our research combines computational and experimental studies of miRNA-target interactions to elucidate complex downstream effects and to better understand the network of miRNA-target interactions in male infertility.

Dr. rer. nat
Abu-Halima, Masood
Post Doktorand, AG Meese / Abdul-Khaliq

Building 60, Room 1.06
Phone: +49 6841 16 26289
Fax: +49 6841 16 26185

Office hours: after prior registration by email


Gene amplifications in tumor cells: developed de novo or adapted from normal cells?

Prof. Dr. rer. nat. Ulrike Fischer

Gene amplifications are a frequent and characteristic marker of human tumors with clinical prognostic value. Gene amplifications are very frequent in human glioblastoma and recent studies document gene amplifications in tumor stem cells especially glioblastoma sphere cells. Interestingly cytogenetic marker of gene amplifications have been identified in mouse neural stem cells almost 20 years ago, but were never characterized further.
Regarding this background following questions arise:

  • Are gene amplifications detectable in mouse neural stem cells?
  • Do gene amplifications exist in human neural stem cells and is there an overlap to gene amplifications found in  glioblastoma sphere cells?
  • Is there an overlap between gene amplifications found in neural stem cells and those known to be present in  glioblastoma primary tumors?
  • Is there a modification of gene amplifications during differentiation?

Upstream-effects of gene amplifications in neural progenitor cells during differentiation
During differentiation of human and mouse neural progenitor cells genome-wide gene amplifications were documented. Some of those gene amplifications overlap with amplified chromosome regions known amplified in human glioblastoma. In contrast to gene amplifications in tumors, gene amplification process in neural progenitor cells seems to be restricted to a small time window and a discrete population of cells. There is nothing known on origin of gene amplifications. In addition it is completely unknown how normal cells circumvent strict replication control that allows replication only once per cell cycle. Since gene amplifications were detectable very short after differentiation induction (24h) we speculate that regulatory process must be fast. Regulation with miRNAs is very likely. This project should shed light on miRNA induced gene regulations immediately after differentiation induction using miRNA exprerssion array analysis.

Prof. Dr. rer. nat
Fischer, Ulrike
apl. Prof. , AG Meese

Building 60, Room 1.06
Phone: +49 6841 16 26270
Phone: +49 6841 16 26289
Fax: +49 6841 16 26185   
Office hours: after prior registration by email


MiRNAs as Biomarker

Dr. rer. nat. Nicole Ludwig

Research Focus "MiRNAs as Biomarker"

Dr. rer. nat.
Ludwig, Nicole
Head of the sequencing lab "SeqLab"

Building 60, Room E.06
Phone: +49 6841 16 26269
Mobile: +49 151 22845644
Fax: +49 6841 16 26185 
Office hours: after prior registration by email


Analysis of human endogenous retrovirus encoded proteins regarding their relevance for human biology

Prof. Dr. rer. nat. Jens Mayer

Human endogenous retrovirus (HERV) sequences comprise about 8% of the human genome. HERV sequences reside in the genome already for millions of years. Several HERV loci are known to exert important biological functions. Some HERVs are evolutionarily younger and still encode former retroviral proteins, such as the so-called HERV-K(HML-2) group. Transcription of HERVs is often deregulated in human disease. Transcription of HERV-K(HML-2) is strongly upregulated in several tumor diseases, among them carcinoma in situ of, and fully manifest, germ cell tumors. Previous work has identified transcribed HERV-K(HML-2) loci encoding active proteins. It is not known whether expression of such HERV-K(HML-2) proteins contributes to tumor development. We employ specifically tailored experimental procedures to examine their relevance for human biology and disease.

Towards a thorough description of transcribed Human Endogenous Retrovirus loci — and their potential involvement — in Health and Disease
The notion of the human genome is changing. Many more genome regions than previously thought are transcribed into RNA. Identification and further characterization of those transcribed regions, the human transcriptome, will be essential to comprehend its role in health and disease. About 8% of the human genome is comprised of human endogenous retroviruses (HERVs). HERVs contribute significantly to the human transcriptome because of intrinsic promoters and transcriptional regulators. HERV transcripts are found in every human tissue and many HERV loci seem to have retained transcriptional activity. Yet, very little is known about transcriptional activity and regulation of individual HERV loci in health and disease. To better comprehend the contribution of HERVs to the human transcriptome, and their potential roles in human diseases, we will comparatively analyse transcription of HERV loci in normal and diseased human tissues and cell types. Our research will significantly contribute to filling a crucial gap in ongoing international initiatives for characterizing the human transcriptome. Furthermore, our research will also allow to asses the role of transcribed HERVs in regu­lating genes of potential clinical relevance, likely reveal clinical markers on the RNA level and identify clinically relevant genome regions.

Prof. Dr. rer. nat.
Mayer, Jens
Post Doktorand, AG Mayer

Building 60, Room D01
Phone: +49 6841 16 26627
Fax: +49 6841 16 26185
Office hours: after prior registration by email



Curriculum vitae: Dr. med. Hedwig Stalter

* 1907
† 1986

  • Medical studies: Promotion to Dr. med.
  • Profession as a pediatrician in Dudweiler
  • Establishing the Hedwig Stalter Foundation for the Advancement of young scientists at the Institute of Human Genetics in Homburg / Saar



The aim of Hedwig-Stalter-Foundation is the promotion of young scientists at the Institute of Human Genetics, University of the Saarland. The Institute owes this foundation the pediatrician, Dr. med. Hedwig Stalter, which has has in her will that from their legacy a foundation will be set. Dr. med. Hedwig Stalter was a practicing pediatrician who the Institute of Human Genetics felt very connected and involved over the years in training events organized by the Institute's founder, Prof. em. Klaus Zang.


General information

The Hedwig-Stalter-Foundation is headed by a two-member board, which consists of Esra Limbacher, Jurist Saarland Ministry of Economic Affairs and the Saarland Prof. Dr. Eckart Meese, director of the Institute for Human Genetics, University of the Saarland. A three-member Scientific Advisory Board is on the selection of, or winners. The Advisory Board consists of Prof. Dr. N. Blin, Head of the Department of Molecular Genetics at the Institute of Human Genetics in Tübingen, Prof. Dr. A. Keller, Chair for Clinical Bioinformatics at the University of the Saarland and Mr. Prof. Dr. K. Zerres, director of the Institute of Human Genetics in Aachen.

By the will of the founder, prizes for young scientists at the Institute of Human Genetics gives the Hedwig-Stalter-Foundationat regular intervals. The peculiarity of the Foundation for the Institute of Human Genetics is that the price is not intended as a tribute to a completed overall scientific work, but as a prize for successful junior scientists, which allow the possibility to pursue their research at the Institute of Human Genetics is to be given.

Award winners

The award was presented at a ceremony on 4 July 1991 Academic for the first time. The former award winners were today Professors Prof. Dr. Wolfram Henn and Prof. Dr. Cornelius Welter. Other winners that have been supported by a grant from the Hedwig Stalter Foundation in the following years were:

  • 1994/1995 Dr. Ayhan Ermis und Dr. Steffi Urbschat
  • 1996/1997 Dr. Ulrike Fischer
  • 1999/2000 Dr. Matthias Engel, Dipl.-Biol. Christine Bauer und Dipl.-Biol. Dominik Monz
  • 2002/2003 Dipl.-Biol. Sandra Ehlhardt, Dipl.-Biol. Silke Wemmert und Dipl.-Biol. Andrea Zippel
  • 2004/2005 Dipl.-Biol. Jens Radermacher
  • 2009/2011 Dr. Petra Leidinger
  • 2013 Dr. Nicole Ludwig
  • 2016 Dr. Masood Abu-Halima

Institute of Human Genetics

Saarland University

Gebäude 60
66421 Homburg
Phone:     +49 6841 16 23338
Fax:          +49 6841 16 26185


Genetic Counseling Center

Saarland University

Gebäude 68
66421 Homburg
Phone:     +49 6841 16 26605
Fax:          +49 6841 16 26600