Lecture
Talk@BCRT | Malte Spielmann
Malte Spielmann ist Professor und Vorsitzender der Abteilung für Humangenetik an der Charité und Forschungsgruppenleiter am Max-Planck-Institut für molekulare Genetik. In seinem Vortrag wird er die Rolle von nicht-kodierenden Mutationen und strukturellen Varianten bei der Entstehung menschlicher Krankheiten erörtern.
Disclaimer
***This page is only available in English***
Talk
The Dark Side of the Genome: Challenges and Opportunities in the Post-Genomic Era
hosted by Ludovic Vallier
Clinical genome sequencing has become a reality in most European countries. However, more than 50% of rare disease patients remain without a molecular diagnosis even after undergoing advanced genomic testing. One possible reason for this gap is the lack of focus on the "dark side" of the genome—the 98% that is non-coding—which is often overlooked when diagnosing patients or studying cancer biology. In my presentation, I will discuss the role of non-coding mutations and structural variants in causing human disease. Our research aims to understand the pleiotropic effects of these mutations and structural variants during embryogenesis, as well as their impact on the 3D architecture of the genome. To achieve these objectives, we leverage cutting-edge, high-throughput technologies during mouse embryonic development, including single-cell analysis, chromosome conformation capture techniques, and massively parallel reporter assays.
About the Speaker
Malte Spielmann is Professor and Chair of the Department of Human Genetics at Charité – Universitätsmedizin Berlin and a research group leader at the Max Planck Institute for Molecular Genetics. His research focuses on uncovering the role of non-coding mutations and structural variants in human disease, with a particular emphasis on their effects on three-dimensional genome architecture. He has extensive experience in the clinical application of next-generation sequencing technologies and genome data analysis.
Malte studied medicine at Witten/Herdecke University and received his MD/PhD in 2010 from Ruhr University Bochum following a research stay at Harvard Medical School in Boston, USA. He subsequently moved to Berlin, where he worked as a resident physician and later as a group leader at the Institute of Medical Genetics and Human Genetics at Charité – Universitätsmedizin Berlin, which he now chairs. Following his habilitation and board certification in human genetics in 2016, he completed a research stay at the University of Washington in Seattle, USA. In 2018, he established his own research group at the Max Planck Institute for Molecular Genetics. From 2020 -2026 he was director of the Institutes of Human Genetics at the University Medical Center Schleswig-Holstein, Campus Kiel and Campus Lübeck.
The primary goal of the Spielmann Lab is to elucidate how non-coding mutations and structural variants contribute to human disease. The lab investigates the pleiotropic effects of these genetic alterations during embryogenesis and their impact on three-dimensional genome organization. To address these questions, the team employs state-of-the-art high-throughput technologies in mouse embryonic models, including chromosome conformation capture methods and massively parallel reporter assays. The Spielmann Lab is also at the forefront of developing and applying single-cell technologies to study human disease in mouse models and human postmortem tissues.
Info
When:
March 12, 2026
1:00 pm
Where:
BIH Center for Regenerative Therapies (BCRT)
Cranach Haus, Auditorium (0.0044/45)
Föhrer Str. 15, 13353 Berlin
Registration:
No registration required.
