AG Applied Genetics
Lead: Dr. med. Tim Ripperger, PhD
Our focus is the functional characterization of genetic variants and a better understanding of their influences.
- Dr. med. Tim Ripperger, PhD (Lead)
- Judith Penkert, WBA
- Melanie Decker, M.Sc., PhD student
Understanding the functional consequences of genetic variants has become a major task and is crucial for translating genomics data into clinical care. In our team, we aim to learn more about the impact of individual genetic variants and, thus, the molecular function of proteins and their variants in health and disease. With a main focus on cancer predisposing syndromes caused by genetic variants in transcription factor genes, especially RUNX1-associated familial platelet disorder (RUNX1-FPD), we are establishing assays for the functional classification of gene variants detected in diagnostics and research using in vitro and in vivo techniques. To further characterize the consequences of constitutional genetic variants and potentially define future therapeutic targets, we have started studying 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).