A newly developed method based on artificial intelligence is intended to optimize both the diagnosis and treatment of neuromuscular diseases. The Aachen-based optimization specialist, INFORM GmbH, is contributing the expertise of its DataLab to health research for the first time in a research project with the Neuropediatric Department of the University Hospital Essen, the Leibniz Institute for Analytical Sciences (ISAS) and the MVZ Institute for Clinical Genetics in Bonn.
The aim is to improve the diagnosis and treatment of neuromuscular diseases by analyzing patient data using a special algorithm.

Although neuromuscular diseases are rather rare, they can affect up to 2.6 out of 10,000 children. Those affected not only suffer from increasing muscle weakness, muscle pain or muscle cramps, which can lead to immobility, but often also from impaired heart and respiratory functions. In addition, patients often go through lengthy diagnostic procedures until the form of the disease is properly determined and a suitable therapy (if available) can be initiated. The research project, which is part of the LifeSciences.NRW lead market initiative, now hopes to change this. The project is funded by the European Regional Development Fund (EFRE).

Faster and more accurate diagnosis

Since a neuromuscular disease is often genetically determined, complex and costly genetic tests and their accurate interpretation are necessary for a reliable diagnosis. The project participants are now working together to develop faster diagnostic methods. According to the researchers, the solution lies in simpler protein tests. In addition to medical research, artificial intelligence methods will also be used. To evaluate the test results, INFORM is developing a specialist algorithm that is designed to detect certain correlations in the data and thus reliably predict which form of neuromuscular disease a patient is suffering from.

"We hope that the project will lead to great leaps forward," says the manager of the research project, Dr. Andreas Roos from the Department of Neuropediatric at the University Hospital Essen. "With INFORM DataLab as our partner, we have a data science expert on board who understands how to successfully transfer findings from data into reality.”

Data-Knowledge-Decisions: INFORM starts DataLab

One of INFORM's core competencies is deriving knowledge from data to make targeted decisions. With the addition of a new expert area, INFORM DataLab, the software developer expanded its offerings in the areas of data management, data analytics and data science in November 2019. The team's goal is to show or no matter their industry or size what opportunities their data offers. "Equipped with artificial intelligence methods such as predictive analytics and machine learning, software from INFORM can analyze any number of data sources in real time and provide accurate forecasts on the development and interdependence of relevant data," says Gerrit Bury, Head of Consulting Business Intelligence at INFORM. "Within the framework of this research project, we are now using our expertise for the first time in the medical field. We are very pleased that our know-how in the area of Big Data is helping to support health research and thus the timely treatment of affected patients".

About the project: "Gene and protein signatures as GPS for patients with neuromuscular diseases (NME GPS)

Despite enormous progress in genetic analysis, approximately 50 percent of presumed genetically determined cases of neuromuscular diseases remain unexplained. This not only delays or even prevents a possible therapeutic intervention, but also leads to a "diagnostic odyssey" of patients, which in turn causes high costs for the health care system. Using state-of-the-art technologies and microscopic methods, NME-GPS is intended to solve this problem systematically and radically. Using a specially generated algorithm, it will be possible to determine "patterns" of gene and protein co-regulation that accurately predict the causal genetic defect. Reliable diagnosis will have a significant impact on improved genetic counselling and timely therapeutic intervention.

About the lead market initiative LifeSciences.NRW

With the "LifeSciences.NRW" lead market initiative, the state intends to strengthen the innovative power of the lead market LifeSciences in order to sustainably secure competitiveness, employment and prosperity and to increase the international visibility of North Rhine-Westphalia as a leading location for the life sciences.

www.leitmarktagentur.nrw/leitmarktwettbewerbe/lifesciences