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Emmy Noether Junior Research Group - Deciphering the genetic basis of human immune response variation

  • Project Leader: Dr. med. Sarah Kim-Hellmuth
  • Affiliation: Department of Pediatrics, Dr. von Hauner Children’s Hospital
  • Funding: since 2022

The human immune system plays a key role in host protection against microbial infections, autoimmune and inflammatory diseases, cancer, metabolism, and ageing. Large genome-wide association studies have implicated hundreds of genetic loci in immune-related genes highlighting the immune system’s role in the biological mechanism underlying genetic risk to numerous diseases. However, for the vast majority of these genetic variants, we have little understanding of their functional effects and their context-specificity. This challenge is addressed by the Emmy Noether project by Dr. Sarah Kim-Hellmuth, which the DFG is funding with 1.2 million euros for the first three years.

The overarching aim is to characterize the genetic basis of human immune response variation, which will advance our understanding of disease-associated variants and answer questions of genome function plasticity that is shaped by gene-by-environment interactions. For this purpose, this project will first study the in vivo transcriptional immune response using long-read cDNA-sequencing in a cohort of 250 extensively characterized participants of a yellow fever vaccination study. Integrating the transcriptional data then with the rich genetic and molecular characterization available for this cohort provides a unique opportunity to build a multi-layer map of the genetic basis of immune response variation. This approach will develop a roadmap for complex traits at large and enable the move from genetic discovery to functional interpretation and ultimately clinical impact.

Dr. Kim-Hellmuth studied at the LMU and TU Munich, was an assistant doctor at the Institute for Human Genetics at the University Hospital in Bonn, followed by a several-year postdoctoral stay in the USA at the New York Genome Center and Columbia University, where she worked as the main analyst of the international genotype tissue Expression (GTEx) consortium. In 2020 Dr. Kim-Hellmuth resumed her clinical activities at the Dr. von Hauner Children’s Hospital. Since the beginning of 2022 she is project leader of an Emmy Noether Junior Research Group, which is based at the Dr. von Hauner Children's Hospital and at the Institute for Translational Genomics at the Helmholtz Center in Munich. Dr. Kim-Hellmuth can already look back on numerous awards and fellowships, including the Resarch Award of the Munich University Association (2016), DFG Research Fellowship (2016-2017), Marie Skłodowska-Curie Individual Global Fellowship (2017-2019), Helmholtz junior Research Group (2021), Adalbert Czerny Prize (2021) and the GlaxoSmithKline Research Award (2022).