AG Personalisierte Genomik
Lead: Prof. Dr. rer. nat. Thomas Illig
Molecular analyses and related data are getting more and more important to decipher the pathoetiology of complex and rare diseases. These data are increasingly forming the basis for preventive measures and personalized therapies. This is especially the case in the field of cancer research, prevention, and treatment. The team “Personalized Genomics” is mainly engaged in the molecular and functional analysis as well as in the diagnostics of human malignancies of the blood.
Our research activities are organized in two junior research groups lead by Anke Bergmann and Tim Ripperger. Besides their individual foci, they are jointly working on the discovery of disease-causing (epi-)genomic alterations in rare disease at the bedside and study their consequences at the bench.
The team is divided into two Junior Research Groups:
We aim to decipher the genomic and epigenomic landscape of pediatric leukemias.
Despite intensified therapy, including hematopoietic stem cell transplantation (HSCT), advancements of the survival rates of aggressive leukemias in children are stagnating. In the clinical practice, genomic alterations as well as the leukocyte count and the age of the patient are the main prognostic factors which determine risk stratification.
In recent years, genome-wide analyses of leukemias have tremendously increased our understanding of pediatric leukemias. However, many important questions remain unanswered. For example, in the majority of cases, it is unknown how and if the marker genes or regions are functionally involved in the cancerogenesis or progression. Likewise, it is unclear which mechanisms lead to chemotherapy resistance and relapse.
Thus, we aim to further characterize genomic and also epigenomic alterations in pediatric leukemia with respect to their molecular and clinical consequences as precisely as possible, in order to improve the understanding of leukemogenesis. Therefore, we are using OMICS technologies like ChIP-seq, RNA-seq, RRBS-seq, and WGBS-seq (partly single-cell) and transfering results into functional studies.
A better knowledge of the causes of malignant transformation will ultimately enable to optimize risk stratification, identify sufficient treatment combinations with the least possible toxicity and the minimum of long-term side effects, detect high-risk ALL patients, and, thus, improve the long-term overall survival. To achieve this goal, we are working in the context of an interdisciplinary and international network.
Our work is funded by the DFG (German Research Foundation). Anke Bergmann is coordinating the scientific DFG-network “Epigenomic profiling in pediatric lymphoid leukaemias – perspectives for diagnostics, prognosis and therapy”.
- PD Dr. med. Anke Katharina Bergmann (Lead)
- Jana Lentes, M.Sc.
- Beate Kaune, Dipl.-Techn. (FH)
- Willi Arndt, BTA
- Judith Bartel, MTA
- Juliane Ebersold, BTA
- Friederieke Grundstedt, BTA
- Nicole Mathea, MTA
- Doreen Rothe, VMTA
- Melanie Schoop, BL
- Astrid Sundmacher, BL
- Verena Wittig, Biomed. Fachangest.
With a main focus on cancer predisposing syndromes caused by genetic variants of transcription factor genes, especially RUNX1-associated familial leukemia, we are establishing assays for the functional characterization of gene variants detected in diagnostics and research using in vitro and in vivo techniques.We aim to learn more on the impact of individual genetic variants and thus, on the molecular function of certain proteins in health and disease. Understanding the functional consequences of genetic variants has become a major task and is a crucial prerequisite for translating genomics data into clinical care.
To further characterize the regulatory consequences of constitutional genetic variants on the entire cellular network, we have started to study the metobolome of individuals with cancer predisposing gene variants.
Our work is funded by the European Hematology Association (EHA), the Ministry for Education and Research (BMBF), and by intramural grants of Hannover Medical School (HiLF, Clinical Scientist Program).
- Dr. med. Tim Ripperger, PhD (Lead)
- Judith Penkert, WBA
- Melanie Decker, M.Sc., PhD student