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The Modellvorhaben Genomsequenzierung aims to significantly improve diagnosis and treatment for patients with suspected genetic rare diseases. The Germany-wide initiative “Model project for comprehensive diagnostics and therapy finding using genome sequencing for rare and oncological diseases”, which was adopted in 2021 in accordance with §64 e of the Sozialgesetzbuch (SGB) V, started in 2024. The integration of genome sequencing into healthcare as a health insurance benefit is to be tested in a five-year test phase.

With its Centers for Rare and Oncological Diseases and, above all, its state-of-the-art technology platforms, the LMU Klinikum is one of the sites in Germany participating in the pilot project. With genome sequencing of more than 100 children with rare or oncological diseases, the Humangenetik am Hauner and the NGS Facility under the direction of Dr. Rohlfs are making a significant contribution to advancing the best possible diagnostics and thus also the best possible treatment for the affected children. 

At the prestigious BaCell 3D - Organoid Conference, Stephanie Frenz-Wießner received the coveted Best Oral Presentation Award for her outstanding presentation. The conference, which focuses on advanced organoid technologies, attracted experts and researchers from around the world.

In addition to her achievement, Stephanie Frenz-Wießner is pictured with the poster presentation winners, who were also recognized for their outstanding scientific contributions. For more information on the conference, please visit www.bacell3d.com.

We are excited to welcome a new member to the Comprehensive Childhood Research Center (CCRC) at the Dr. von Hauner Children’s Hospital! Since August 2024, Dr. Jonathan Bohlen and his research group have been part of our center.

The Bohlen Lab focuses on the fascinating study of mRNA translation regulation and its critical role in cellular and organismal processes. Their research contributes to advancing our understanding of key biological mechanisms for children with rare and common diseases.

Welcome to the CCRC, Dr. Bohlen and team!

The Dr. von Hauner Children's Hospital (LMU Clinic) presented a coding challenge to the participants in the so-called “Makeathon” of the student initiative TUM.ai on the weekend of April 26-28 2024. Under the motto “AI in Medicine”, the aim was to come one step closer to the integration of artificial intelligence (AI) in medicine. The team led by Daniel Weiss was able to develop a proof of concept with the help of the students: It was proven that external parties can develop algorithms on non-personalized data, which can then be applied to patient data in the clinic via protected channels. Patient data is stored at the children's hospital, but still contributes to the development of artificial intelligence and thus to medical progress.

Four teams were able to successfully solve the tasks set. The Clinical Knowledge Graph developed by Prof. Matthias Mann (A knowledge graph to interpret clinical proteomics data | Nature Biotechnology) was used as the knowledge base for data processing. Using a synthetic data set, the first step was for the students to determine whether patients were healthy or ill. The disease was then classified by determining the first letter of the ICD-10 code. The codes developed were uploaded by the participating teams to the featurecloud.ai platform developed by Prof. Jan Baumbach and funded by EU Horizon 2020 (FeatureCloud – Revolutionising Cloud Communication - FeatureCloud, Privacy preserving federated machine learning and blockchaining for reduced cyber risks in a world of distributed healthcare | FeatureCloud | Project | Fact sheet | H2020 | CORDIS | European Commission (europa.eu)). These algorithms can then be used securely on the hospital server. The algorithms are trained here using real patient data, and the results are evaluated using various metrics (F1 score, accuracy). This evaluation is sent back to the developers via FeatureCloud. Constant feedback allows codes to be improved and specified. First place in the Makeathon went to the “ML4Hope” team, which achieved the highest overall metrics score. Congratulations!

In the future, this proof of concept will make it possible to develop an ecosystem for personalized medicine: while patient data is stored in a decentralized manner in compliance with data protection regulations, external parties can develop algorithms. Data can be generated and processed across Europe, constantly expanding the database. The algorithms make it possible to categorize, diagnose, compare treatment options and make decisions on a medical-individual level. There are also opportunities for the pharmaceutical industry for drug repurposing and more specific drug development. Health insurance companies can personalize preventive treatments and better calculate costs.

For us as a pediatric research center, however, the focus is on the progress of medicine. In addition to faster diagnosis and treatment options for rare diseases, data analysis can also be used to identify risk factors for diseases in adulthood.

We would especially like to thank our partners in this project. Thanks to the cooperation with the following parties, we were able to develop the concept and carry out the Makeathon:

Paul Springer and Denis Dalić from MI4People (MI4People | Machine Intelligence for Public Good | NPO)

Timm Amstein, Marius Vöhringer, Timm Hamm, Shahryar Khorasani and Jörn Kogerup from Capgemini (Transforming Health And Social Care Industry | Capgemini)

Alexander Jarasch from Neo4j (Neo4j Graph Database & Analytics | Graph Database Management System)

Julian Matschinske and Marius Klages from Dehaze (dehaze - Enabling Precision Medicine)

as well as Care-for-Rare Foundation (Care-for-Rare Foundation for children with rare diseases – Help us to help the orphans of medicine!)

Have we aroused your interest? Follow careforrare.github.io/PersonalizedMedicine/ for more information!

Or send any queries on this topic to:

Daniel.Weiss@med.uni-muenchen.de

Nicola.Goetzenberger@med.uni-muenchen.de 

Organoids - three-dimensional miniature models of organs - are less than a millimetre in size. Ideally, they should be able to replicate the functions of their larger counterparts. An interdisciplinary team of scientists at the Dr. von Haunerschen Children's Hospital of the LMU has now succeeded in constructing human bone marrow organoids. "We believe that this technology could prove useful in many ways - from modelling congenital and acquired bone marrow diseases to the biotechnological production of blood cells," says Professor Christoph Klein, Director of the LMU Children's Hospital and Children's Polyclinic. In the journal Nature Methods, the team has described in detail their innovative method for generating these complex human bone marrow organoids from induced pluripotent stem cells.

More information: 

https://www.lmu-klinikum.de/aktuelles/pressemitteilungen/ein-knochenmark-im-miniaturformat/b2654d9d92860337

The European Crohn's and Colitis Organisation (ECCO) has honoured Daniel Kotlarz with the ECCO Pioneer Award for his outstanding research in the field of rare, early-onset inflammatory bowel disease (VEO-IBD). The award is worth €300,000 and is given annually to visionary, innovative and interdisciplinary scientists in the field of inflammatory bowel diseases.

Daniel Kotlarz is a clinician-scientist at the Dr. von Haunerschen Children's Hospital of the LMU and his research aims to investigate the causes of disease in patients with chronic inflammatory bowel disease in early childhood in order to improve the diagnosis and treatment of these patients in the long term.

Children with early childhood inflammatory bowel disease often have severe disease that does not respond to conventional treatments. Daniel Kotlarz's translational research has already made a significant contribution to the understanding of the genetic causes of childhood inflammatory bowel disease and has optimised treatment for many children. However, currently the majority of patients cannot be genetically diagnosed and the underlying causes of the disease remain unclear.

The aim of the ECCO Pioneer Award is to complement genome sequencing with the innovative application of multimodal gene expression analysis of complex intestinal tissue at the level of individual cells. The aim is to identify previously unknown molecular disease mechanisms, biomarkers and therapeutic targets for early childhood chronic inflammatory bowel disease.

Sarah Kim-Hellmuth, head of the Kim-Hellmuth Lab, and Ilse Sturkenboom, professor of Islamic art history, will each receive 1.5 million euros for their projects. The ERC grants are awarded on the basis of the scientific excellence of the applicants and the proposed project, and are among the most prestigious research grants in Europe.