A new EU Research Project "Screen4Care"

October 20, 2021

Accelerating Diagnosis for Rare Disease Patients Through Genetic Newborn Screening and Artificial Intelligence started on October 1, 2021.

Amara Khan, Fernanda Ramos-Gomes, Andrea Markus, Matthias Mietsch, Rabea Hinkel, and Frauke Alves, "Label-free imaging of age-related cardiac structural changes in non-human primates using multiphoton nonlinear microscopy," Biomed. Opt. Express 12, 7009-7023 (2021). Doi: https://doi.org/10.1364/BOE.432102

The international public-private consortium consisting of 35 interdisciplinary partners has set itself the goal of using an innovative research approach to overcome the lengthy and complicated diagnosis of patients with rare diseases, which often results in numerous consultations, misdiagnoses and ineffective treatments. The project runs over a period of five years with a total budget of 25 million euros, provided by the Innovative Medicines Initiative (IMI 2 JU), a joint venture between the European Union and the European Federation of Pharmaceutical Industries and Associations (EFPIA).

The concept of the "Screen4Care" application aims at shortening the time for the diagnosis of rare diseases and efficient interventions through genetic newborn screening and advanced analysis methods such as machine learning and was largely developed a year ago in Göttingen by Prof. Frauke Alves and Dr. Jana Zschüntzsch.

Neuromuscular diseases, which make up a relevant group of rare diseases, show a large number of overlapping symptoms, which require the inclusion of new diagnostic parameters for an improved classification of the disease. To this end, the research group of Prof. Alves "Translational Molecular Imaging" at the Max Planck Institute for Experimental Medicine uses new high-resolution imaging strategies, such as multiphoton imaging, in order to display the modified skeletal muscle microarchitecture in biopsies in three dimensions. The aim is to identify new imaging biomarkers for phenotypic profiles in degenerative neuromuscular diseases in order to better classify patients into subgroups and to gain new myostructural knowledge. The collected data is used to improve the digital diagnostic algorithms. At the University Medical Center Göttingen, the working group for Research on Neuromuscular Diseases headed by Dr. Jana Zschüntzsch, senior physician in the Neurology Department, will achieve the non-invasive visualization of muscles in patients with neuromuscular diseases by means of innovative multispectral optoacoustic tomography, which uses pulsed laser light in the near and far infrared range to induce acoustic signals. She also heads one of the 5 work packages that includes the clinical application of digital technologies. Overall, the project is a successful example of a close collaboration between basic research at the Max Planck Institute for Experimental Medicine and the University Medical Center Göttingen, which enables the further development of innovative imaging technologies in connection with artificial intelligence processes in order to ultimately use them to improve diagnosis and therapeutic care of patients with rare diseases.

Project website: www.screen4care.eu

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