Malte Spielmann

Malte Spielmann is an internationally recognized expert on the genetic causes of rare diseases and specializes in congenital malformations, particularly of the limbs, which are among the most complex and difficult birth defects to diagnose. As part of his Einstein Professorship at Charité, he will establish a new research program aimed at uncovering rare genetic disorders. Prof. Spielmann and his team will combine genetic analysis methods (so-called multi-omic technologies) to study the genomes of patients with even greater precision and to identify previously unexplained disease causes. This work employs state-of-the-art sequencing technologies — including long-read whole-genome sequencing using the PacBio Revio platform — which make it possible to visualize not only the genes themselves but also their activation (gene regulation) and their spatial arrangement in the cell nucleus (3D genome organization).