AG Applied Genetics
Lead: Dr. med. Tim Ripperger, PhD
Understanding the functional consequences of genetic variants has become a major task and is crucial for translating genomics data into clinical care. Our focus is the functional characterization of genetic variants and a better understanding of their influence regarding both the cellular context as well as microenvironmental aspects.
- Dr. med. Tim Ripperger, PhD (Lead)
- Dr. med. Judith Penkert, WBA
- Melanie Decker, M.Sc., PhD student
As indicated by the term applied genetics, we aim to elucidate the impact of individual genetic variants, and, thus, the molecular function of disease-associated proteins and their variants, seeking to translate novel findings into clinical care.
is focusing on the establishment of in vitro and in vivo assays for the functional classification of gene variants in hereditary diseases, especially in RUNX1-associated familial platelet disorder (RUNX1-FPD) and other leukemia-predisposing diseases,, and we foster the implementation of functional taxonomies in clinical variant classification schemes.
Regarding malignant transformation in cancer predisposition syndromes, we are characterizing additive effects of predisposing germline variants and somatically aqucired genetic alterations. With this knowledge, we can optimize clinical care of affected individuals in regard to surveillance and therapy.
To further characterize the consequences of germline genetic variants and potentially define future therapeutic targets or preventive measures in cancer predisposing syndromes, we have started conducting metabolomic analyses to characterize and understand premalignant metabolic alterations that, in the sense of adaptive oncogenesis, co-prime malignant transformation.
Our work is funded by intramural grants of Hannover Medical School (HiLF, clinical scientist program), the European Hematology Association (EHA), and the Ministry for Education and Research (BMBF).