Profile
After her Bachelor of Science in Molecular biotechnology at the Technical University Dresden, Christina Eichstaedt continued her education at the University of Cambridge, UK. From a Master of Philosophy in Applied Biological Anthropology she continued to a PhD in Evolutionary Genetics. She characterised the phenotypic and genetic mechanisms of adaptation to high altitude in Native American residents of the Argentinean Andes living above 3500 m. In 2014 she started as a Post-Doc in the group of Prof. Ekkehard Grünig at the Center for Pulmonary Hypertension at the Thoraxklinik Heidelberg. Together with the Institute of Human Genetics she carried out the molecular genetic diagnostics of pulmonary (arterial) hypertension patients. The discoveries from this research led to her “Habilitation” in 2019 in the field of Molecular Human Genetics at the Medical Faculty of Heidelberg University.
Expertise
A profound background in genetics eased the start of Christina Eichstaedt in the molecular genetic diagnostics work-up of pulmonary (arterial) hypertension patients. Clinical and genetic family assessments have been carried out by Prof. Grünig since >20 years. On this basis, Christina Eichstaedt investigated many families with pulmonary arterial hypertension. This led to her discovery of a novel PAH gene (KLF2). She co-developed the PAH specific gene panel diagnostics, which enables a simultaneous analysis of 50 genes in up to 90 patients. An EU-patent for this panel diagnostics was obtained by Prof. Dr. Ekkehard Grünig, PD Dr. Christina Eichstaedt and Dr. Katrin Hinderhofer in March 2021. Christina Eichstaedt’s general focus is on the discovery of novel PAH genes, the explanation of reduced disease penetrance and the relevance of di-genetic inheritance. Moreover, she investigates the genetic predisposition to high altitude pulmonary edema in mountaineers and families living at high altitude. In this area Christina Eichstaedt could already describe first relevant genes.
- Genetics of pulmonary (arterial) hypertension
- Genetics of high altitude pulmonary edema
- Epigenetic changes induced by exercise training in pulmonary hypertension patients
- Pulmonary Hypertension
1. Eichstaedt CA, Mairbäurl H, Song J, Benjamin N, Fischer C, Dehnert C, Schommer K, Berger MM, Bärtsch P, Grünig E, and Hinderhofer K. 2020. Genetic Predisposition to High-Altitude Pulmonary Edema. High Alt Med Biol. 2020;21(1):28-36.
2. Eichstaedt CA, Verweyen J, Halank M, Benjamin N, Fischer C, Mayer E, Guth S, Wiedenroth CB, Egenlauf B, Harutyunova S, Xanthouli P, Marra AM, Wilkens H, Ewert R, Hinderhofer K, and Grünig E. Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study. Int J Mol Sci. 2020; 21(9):E3339.
3. Eichstaedt CA, Song J, Rodriguez-Viales R, Pan Z, Benjamin N, Fischer C, Hoeper MM, Hinderhofer K, and Grünig E. First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension. Clinical Science. 2017;131(8):689-698.
4. Grünig E*, Eichstaedt CA*, Barberà JA, Benjamin N, Blanco I, Bossone E, Cittadini A, Coghlan G, Corris P, D'Alto M, D'Andrea A, Delcroix M, de Man F, Gaine S, Ghio S, Gibbs S, Gumbiene L, Howard L, Johnson M, Jurevičienė E, Kiely D, Kovacs G, MacKenzie A, Marra AM, McCaffrey N, McCaughey P, Naeije R, Olschewski H, Pepke-Zaba J, Reis A, Santos M, Saxer S, Tulloh RM, Ulrich S, Vonk Noordegraaf A, Peacock A. European Respiratory Society Task Force Statement on: Exercise training and rehabilitation in patients with severe chronic pulmonary hypertension. Eur Respir J. 2019;53:1800332.
5. Pagani, L., Lawson, D. J., Jagoda, E., Morseburg, A., Eriksson, A., Mitt, M., … Eichstaedt CA, …, Metspalu, M. Genomic analyses inform on migration events during the peopling of Eurasia. Nature, 2016;538(7624): 238-242.
Lung Research - Projects
1. Genetics of pulmonary (arterial) hypertension
Pulmonary arterial hypertension (PAH) is a rare, partially inherited disease. Known genetic pathogenic variants (mutations) are primarily found in the signalling pathway of the bone morphogenetic protein receptor 2 (BMPR2). However, there are still families with a genetic predisposition outside the known PAH genes. In this context, Christina Eichstaedt could identify a novel PAH gene (KLF2) using the PAH specific gene panel diagnostics (Fig. 1). In addition, she could show that in some families mutations in more than one gene are required to develop PAH. Apart from PAH she also investigates the genetic predisposition of patients with other forms of pulmonary hypertension, such as chronic thromboembolic pulmonary hypertension.
2. Genetics of high altitude pulmonary edema
High altitude pulmonary edema (HAPE) can develop in mountaineers independent from their level of fitness. The edema results from exaggerated hypoxic pulmonary vasoconstriction. A genetic predisposition could be shown for the first time by Christina Eichstaedt, Ekkehard Grünig and in collaboration with the Department of Sports Medicine Heidelberg in a cohort of HAPE-susceptible mountaineers. A genetic predisposition could also be identified in a family with HAPE and PAH (Fig. 2). Apart from mountaineers, also permanent high altitude residents can develop HAPE. This is often clustered in families, who have barely been investigated so far. Hence, another focus of Christina Eichstaedt is the identification of genes responsible for HAPE episodes in high altitude families.
3. Epigenetic changes induced by exercise training in pulmonary hypertension patients
A specialised exercise and respiratory training was developed in 2003 and scientifically evaluated by Prof. Grünig and his team together with the Rehabilitation Clinic Königstuhl. The effects of the training on e.g., exercise capacity and quality of life are comparable to the effect of a targeted PAH medication. Thus, another focus of Christina Eichstaedt is the characterisation of these training effects on a molecular level. Epigenetic analyses in terms of micro RNA expression and DNA methylation changes are conducted to investigate possible changes.
