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2022 Friedmund Neumann Prize laureate Dr. Sarah Kim-Hellmuth:
"Understanding the Diversity of Genetic Effects on Gene Expression in Health and Disease"

Over the past 17 years, genome-wide association studies have identified thousands of genetic variants robustly associated with complex traits and diseases. Characterizing cell type- and context-specific effects of genetic variants is crucial for understanding biological processes that underlie these genetic associations to disease. One approach to address this challenge is to map genetic effects on the transcriptome across numerous conditions. In this talk, I will discuss our work within the Genotype-Tissue Expression consortium, which has built the most comprehensive atlas to date of expression and splicing quantitative trait loci in cis (cis-QTLs) across human tissues. Using RNA-sequencing data from 17,382 samples across 49 tissues of 838 individuals with genome sequencing data, we gain insights into the tissue-, cell type-, sex- and age-specificity of cis-QTLs at an unprecedented breadth and depth. Taking into account this context-specificity of cis-QTLs significantly improves our understanding of the underlying mechanism of genetic risk to disease, which can ultimately inform management of disease risk and treatment.

Speaker: Dr. Sarah Kim-Hellmuth (MD, Helmholtz Munich and LMU)

Sarah Kim-Hellmuth studied medicine at the University of Munich (LMU) and the Technical University of Munich (TU) and did her specialist training at the Institute of Human Genetics of the University Hospital Bonn, followed by a multi-year postdoc at the New York Genome Center and at Columbia University in New York, where she was lead analyst of the Genotype-Tissue Expression (GTEx) consortium. Since 2021, she has been a clinical geneticist and since early 2022 has led an Emmy Noether Junior Research Group at the Institute of Translational Genomics at the Helmholtz Zentrum München and the Dr. von Hauner Children’s Hospital of the University of Munich (LMU).

Lecture Chair: Dr. Ute Scholl (BIH Johanna Quandt Professor for Hypertension and Molecular Biology of Endocrine Tumors)

Ute Scholl is BIH Johanna Quandt Professor for Hypertension and Molecular Biology of Endocrine Tumors at Charité – Universitätsmedizin Berlin and the Berlin Institute of Health at Charité, Germany. She has contributed to the identification and characterization of ion channel mutations as causes of sporadic and familial primary aldosteronism. She earned her M.D. at RWTH Aachen University. After postdoctoral training at Yale University and an appointment as Assistant Professor in Düsseldorf, she joined the BIH and the Charité in 2017.


The lecture will be held online via GoToMeeting. To participate in the lecture, please register hereThe registration will be open until maximal participant capacity is reached.

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Tuesday, October 4, 2022
2:00 – 3:00 pm


via GoToMeeting
A login-link and dial-in number with access code for the lecture will be provided shortly via mail.


Please register here.
The registration will be open until maximal participant capacity is reached.

PD Dr. Mareen Matz

Projektmanagerin Nationale Strategie für gen- und zellbasierte Therapien, Forschungskoordinatorin