Photo: Prof. Malte Spielmann © Charité | Sabine Gudath
Genome medicine is becoming part of standard university care
Berlin, 02 January 2026
At the beginning of the year, Malte Spielmann assumed the professorship for Medical Genetics and Human Genetics at Charité – Universitätsmedizin Berlin. This appointment includes the directorship of the institute of the same name. His goal is to establish state-of-the-art genomic diagnostic procedures, such as long-read sequencing, at the Berlin university hospital and to make the largely unknown part of our genome usable for medicine. The appointment is supported by an Einstein Professorship, funded by the Einstein Foundation Berlin, which is supporting the human geneticist. Malte Spielmann succeeds Prof. Stefan Mundlos, who led the institute until his retirement in 2024.
“We have arrived in the age of genomic medicine,” says Prof. Malte Spielmann. “Technological advances in sequencing and data analysis are opening up entirely new possibilities for the diagnosis and treatment of rare hereditary diseases and cancer. To ensure that Charité patients benefit from these advances as quickly as possible, we will be rapidly integrating the latest diagnostic procedures into standard care.” To achieve these goals, the Berlin native is returning to Charité and his hometown after five years as Director of the Institutes of Human Genetics at the University Hospital Schleswig-Holstein in Lübeck and Kiel.
Genome Medicine: A View of the Complete Genome
Genome medicine refers to personalized medicine tailored to an individual’s unique genetic makeup. It considers not only individual genes, but the entirety of genetic information, the so-called genome – specifically its “letter sequence,” gene activity, and three-dimensional structure. This comprehensive information can be particularly helpful in uncovering the long-sought genetic cause in people with rare hereditary diseases.
“For example, patients with congenital limb deformities or rare neurological diseases will benefit enormously from genomic medicine, as diagnosis has often been difficult with previous methods,” explains the new institute director. “We can now offer genome sequencing to all individuals at Charité with suspected, previously undiagnosed rare diseases as part of the Genome Sequencing Model Project.” The Genome Sequencing Model Project is part of the Federal Ministry of Health’s National Strategy for Genome Medicine and aims to integrate genomic medicine into healthcare in Germany. The interdisciplinary analysis of the sequencing results is ensured by the Berlin Center for Rare Diseases (BCSE), whose Medical Genetics and Human Genetics team will be headed by Malte Spielmann.
Also relevant for cancer and newborn diagnostics
The new diagnostic procedures can also support treatment decisions for critically ill newborns or patients with advanced cancer, or be used to analyze the prognostic risk in hereditary tumor diseases. “I expect that by 2030, approximately half of all patients at a hospital like Charité will directly benefit from genomic medicine,” emphasizes Malte Spielmann. “Human genetics will therefore become significantly more interdisciplinary: We will collaborate intensively with colleagues in gynecology, pediatrics, neurology, oncology, and pathology. Charité offers excellent conditions for this.”
In addition to his role as director of the institute, Malte Spielmann will also head the Human Genetics department at Labor Berlin – Charité Vivantes GmbH. “My goal is for the two institutions to collaborate even more closely so that we can offer the latest genetic diagnostics not only to Charité, but to all of Berlin and Brandenburg,” explains the 44-year-old. “This is how we are laying the foundation for genomic medicine throughout the entire region and beyond.”
The “Dark” Part of the Genome in Scientific Focus
The human geneticist’s research focuses on the so-called “dark” part of the genome: the regions of the genome whose function is still poorly understood. “Currently, we are almost exclusively concerned with the approximately 1.5 percent of the genome that contains protein-coding genes and have to disregard the remaining 98 percent,” he emphasizes. “These ‘dark’ regions, however, play a crucial role in determining when and where genes are active. I want to make this poorly understood part of the genome usable for medicine. It holds enormous potential – both for the diagnosis of rare and oncological diseases and for therapeutic approaches.”
The physician will establish a research group at the Max Planck Institute for Molecular Genetics (MPIMG) as an external member of the Max Planck Society. There, he plans, for example, to develop new high-throughput analysis methods that will allow thousands of genetic variants to be functionally tested. Another focus is the creation of a “virtual embryo” based on state-of-the-art single-cell analyses, which will allow the effects of genetic mutations during embryonic development to be investigated and, in the future, modeled using artificial intelligence. In addition, Malte Spielmann is a member of the interdisciplinary Collaborative Research Center “Sex Diversity,” where he investigates sex differences at the cellular level.
In Teaching: Ethical Aspects of Human Genetics
In his discussions with students, Malte Spielmann considers it important to address not only the scientific fundamentals but also the ethical aspects of human genetics. “International research initiatives analyze the complete genome before or immediately after birth to detect genetic diseases as early as possible,” he explains. “But how reliable are these predictions? Is there a right to not know? Human genetics repeatedly encounters ethical boundaries, and I want to raise awareness of this among the next generation of medical professionals.”
Brief Biography
Malte Spielmann (born January 26, 1981, in Berlin) studied medicine at the University of Witten/Herdecke and, after a research stay at Harvard Medical School in Boston, USA, received his doctorate from the University of Bochum in 2010. He then moved to Berlin, where he initially worked as a resident physician and later as a group leader at the Institute of Medical Genetics and Human Genetics at Charité, which he now heads. Following his habilitation and board certification in 2016, Malte Spielmann undertook a research stay at the University of Washington in Seattle, USA, and in 2018 established a research group at the Max Planck Institute for Medical Interdisciplinary Medicine (MPIMG). In 2020, he assumed leadership of the Institutes of Human Genetics at the University Hospital Schleswig-Holstein, Kiel and Lübeck campuses. His work has received numerous awards and has been supported by the German Center for Cardiovascular Research (DZHK) and the German Research Foundation (DFG), including a research fellowship and the Heisenberg Program. In 2025, he was among the world’s most cited researchers. As spokesperson for the network for rare diseases within the model project Genome Sequencing, he advocates for the needs of people with rare diseases.
About the Berlin Center for Rare Diseases (BCSE):
There are approximately 6,000 to 8,000 different so-called rare diseases, affecting at most one in 2,000 people. They are largely genetic in origin. Often, the search for the correct diagnosis is lengthy and stressful for those affected and their families. The BCSE makes the combined expertise of the numerous specialist departments at Charité available to patients with rare diseases. It helps them find the right specialists as quickly as possible and, in cases of unexplained symptoms, obtain an interdisciplinary diagnosis. The BCSE operates in two teams with different age-related focuses (BCSE Pediatrics and BCSE Adults). Experts from various fields of pediatric and adult medicine thus handle inquiries from the entire spectrum of rare diseases.
About Labor Berlin
Labor Berlin – Charité Vivantes GmbH, Europe’s largest hospital laboratory and a subsidiary of Charité and Vivantes, provides cutting-edge diagnostic services to hospitals and private practices in the metropolis of Berlin and beyond. Labor Berlin supplies diagnostics to approximately 80 percent of the hospital beds in the capital, analyzes over 35,000 samples per day, and processes more than 60 million analyses annually. Its broad range of specialties, innovative and state-of-the-art infrastructure, as well as clinical trials and industry collaborations enable diagnostics of the highest standard – for the benefit of patients and for Berlin as a healthcare hub.