Rare Disease Day: HiChol - a research network for rare cholestatic liver diseases
The universities in Magdeburg, Hanover and Düsseldorf are conducting joint research into a better understanding of genetic cholestasis and novel therapies.
This year, Rare Disease Dayon February 29 will once again bring the challenges of rare diseases to the public's attention. Research is also being carried out at Magdeburg University Hospital with the aim of better understanding and treating rare diseases. This includes the interdisciplinary research network HiChol (Hereditary Intrahepatic Cholestasis). Here, scientists are investigating genetically determined cholestatic liver diseases in order to identify underlying changes in genes, better understand these clinical pictures
Professor Verena Keitel-Anselmino, Director of the University Clinic for Gastroenterology, Hepatology and Infectiology Magdeburg, has been leading the network since May 2019. She emphasizes: "The work in the HiChol network contributes to deepening our understanding of rare genetic cholestatic liver diseases and creating the basis for improved care." Around 300 million people worldwide are affected by a rare disease, of which around 72 percent are genetic. Hereditary cholestasis, disorders of bile formation or secretion from the liver into the intestine due to genetic changes, vary from mild to severe clinical pictures. Both children and adults are affected.
Photo: Prof. Dr. Verena Keitel-Anselmino is spokesperson for the HiChol network and Director of the University Clinic for Gastroenterology, Hepatology and Infectiology in Magdeburg.Photographer: Sarah Kossmann/UMMD
The collaboration at the Magdeburg, Hanover and Düsseldorf sites enables the network to analyze different genetic variants and better understand their effects on the course of the disease. The research work involves the use of various methods, from cell cultures and organoid models to computer-based prediction models. A key component of the network is a multicenter patient registry, which makes it possible to record the influence of genetic variants on the course of the disease and the effectiveness of therapies.
HiChol research network
The HiChol research network is part of the "translational collaborative projects in the field of rare diseases", funded by the Federal Ministry of Education and Research as part of Research 4 Rare. It brings together expertise from across Germany to develop new findings on rare diseases through problem-solving and interdisciplinary collaboration. Research into rare diseases also promises model findings that can be transferred to other more common diseases. Further information can be found at https://www.research4rare.de/.
Scientific contacts
Prof. Dr. med. Verena Keitel-Anselmino, Spokeswoman HiChol Network, Director of the University Clinic for Gastroenterology, Hepatology and Infectiology at Otto von Guericke University Magdeburg, phone: +49-391-67-13100,
Dr. rer. nat. Carola Dröge, Project Manager HiChol Network, Research Associate at the University Clinic for Gastroenterology, Hepatology and Infectiology at Otto von Guericke University Magdeburg, phone: +49-391-67-21509,
Photo: Rare Disease Day 2024 Source: Research 4 Rare