Rapid advances in molecular biology technologies are leading to a data explosion in biomedical research and clinical diagnostics. The goal of translational bioinformatics is to develop new and targeted ways to analyze and evaluate these data sets in order to implement innovations that benefit patients. For instance, it is desirable to make information from genome or single-cell analyses usable for differentiated diagnoses and optimal treatment decisions, “but that is not so easy” explains Professor Dieter Beule, citing genetic diseases as an example: “Given that each person’s genome contains three billion building blocks, it’s no wonder that humans reach their limits when attempting to analyze these data. Innovative algorithms, powerful software and new techniques are needed to enable effective interdisciplinary collaboration. Only in this way can the many individual variations be safely identified and reliably assessed to determine which of them may be clinically relevant and critical for developing treatment strategies.”
Benefits for researchers and patients alike
Providing solutions that help researchers and clinicians find the proverbial needle in the haystack is the task of the Core Unit Bioinformatics, which Beule has headed for the last six years. With the VarFish software, the Core Unit has succeeded in developing a new solution that specifically helps to pinpoint the genetic causes of rare diseases and that has proven its worth in innovative diagnostics and in numerous research projects. “But of course that’s only one aspect of the work done by translational bioinformaticians,” says Beule, who took up his professorship on August 15, 2021. “We want to make the wide variety of molecular data usable for as many research questions and clinical innovations as possible. To do this we need to analyze them in a reliable and verifiable manner, and then make them available in such a way that they can be used effectively for interdisciplinary biomedical research and innovative diagnostics.”
The difficulty here is not only the sheer volume of data and the large amount of computing power required, but also especially the diversity and complexity of the metadata describing the experimental and biomedical influencing factors. Another challenge is the high pace of innovation in molecular biological methods, which constantly generate new types of data and thus necessitate new analytical techniques. The long-term goal of the Professorship in Translational Bioinformatics is therefore to develop algorithms, software, processes and systems as part of a modular “data analytics ecosystem” that manages and analyzes such data types in the field of clinical translation.
An important step towards the BIH’s mission
The new Professorship in Translational Bioinformatics is embedded in the Exploratory Diagnostic Sciences Department of the BIH Functional Genomics Center, which is primarily concerned with advancing disease diagnostics. Professor Christopher Baum, Chair of the BIH Board of Directors and Chief Translational Research Officer of Charité – Universitätsmedizin Berlin, sees the expansion of the bioinformatics as an important step towards the BIH’s mission of turning research into health. “The future of medicine is personalized: Each patient needs to have treatment and prevention strategies tailored to his or her individual health needs. Here the depth of molecular diagnostic capabilities and the quality assurance of bioinformatics analysis are becoming increasingly crucial. Professor Beule and his team are doing excellent work in this area, which is very much in demand internationally.
Dieter Beule was born in 1966 in the North Rhine-Westphalian town of Winterberg and studied physics at the Universities of Freiburg and Sussex, as well as at the Technische Universität Berlin. In 2004 he received his PhD from Humboldt-Universität zu Berlin (HU) on a topic in statistical physics. In 1998 he started worked as a bioinformatician at the HU’s Institute for Theoretical Biology, where he conducted research on expression analysis and transcription factor binding sites. From 2001 to 2014 he successfully founded and established two companies in the fields of bioinformatics services, biomedical software and in vitro diagnostic devices. In 2015 Dieter Beule established the new Core Unit Bioinformatics at the BIH, where since 2017 he has also led the High-Performance Compute Unit. The Core Unit Bioinformatics provides highly specialized data analysis services for biomedical research at the BIH, the MDC and Charité, while also developing new technologies and techniques for bioinformatics data processing. Professor Beule’s research focuses on the development of methods for efficient, reproducible and reliable omics data analysis and the development of new technologies for interdisciplinary data use, including all the necessary system and process innovations. He is involved in numerous large research networks, such as the German Human Genome-Phenome Archive (GHGA) within the National Research Data Infrastructure (NFDI), the German Network of University Medicine (NUM) and the German Genomics Initiative (genomDE).