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Prof. Dr. Dr. Ahmad Aziz, a scientist at DZNE's Bonn site, has been awarded a „Proof of Concept Grant“ from the European Research Council (ERC). He aims to further develop innovative software for analyzing genetic risk factors associated with neurological disorders. The grant provides €150,000 in funding over a period of 18 months.
Over 50 severe hereditary disorders, including many neurodegenerative diseases such as Huntington's disease and spinocerebellar ataxias, are caused by alterations in so called ‘short tandem repeats’ (STRs). STRs are short DNA sequences that occur repeatedly within the genome. These regions are particularly unstable and thereby prone to spontaneous mutations. In affected individuals, the number of repeat units can increase substantially over the course of their lives. The longer these repeat sequences become, the more unstable they are.
Recent studies show that this ‘somatic instability’ plays a key role in disease processes. However, suitable bioinformatics tools to reliably measure and analyze this phenomenon from genetic sequencing data are currently lacking. This limitation hampers both the development of new therapies and clinical diagnostics.
“The instability of these DNA sequences is considered an important factor in a range of severe neurological diseases. Our goal is to provide new analytical tools that support research, diagnostics, and therapeutic development alike,” says Ahmad Aziz, who, in addition to doing research at DZNE is also a consultant neurologist at the Center of Neurology (Clinic for Parkinson, Sleep and Movement Disorders) of University Hospital Bonn. Last year, he was appointed to a joint professorship at the University of Bonn (Institute for Medical Biometry, Informatics and Epidemiology) and DZNE.
Software for research, diagnostics and drug development
The project builds on findings from Aziz’s ERC-funded research, for which he received a €1.5 million ERC Starting Grant in 2022. The team will further develop and validate software that enables both targeted analysis of individual STR instability and genome-wide assessment of STR variation.
To this end, Aziz and his team will leverage DNA sequencing data as well as clinical and population-based datasets, including data from the Rhineland Study and the UK Biobank. The new software will combine innovative bioinformatics algorithms with machine learning approaches to analyze STR variation more rapidly and accurately than existing methods.
The project is being carried out in close collaboration with several DZNE units, including the Rhineland Study led by Prof. Dr. Monique Breteler, the PRECISE platform led by PD Dr. Marc Beyer and the Technology Transfer Office. The project also involves international collaboration partners.
Potential for patient care and innovation
In the long term, the new analytical tool could help accelerate the development of therapies for STR-related disorders, improve the early detection of genetic risk factors, and identify previously unrecognized disease-associated DNA alterations. The project therefore has the potential to advance both neurodegenerative disease research and precision medicine.
“We want to develop software that significantly improves the analysis of tandem repeats and opens up new opportunities for both research and practical applications. In the future, I see applications in the pharmaceutical industry as well as in clinical diagnostics,” says Ahmad Aziz.
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About the ERC „Proof of Concept“ Grant: The European Research Council (ERC), established by the European Union, funds excellent science. The „Proof of Concept Grant“ enables ERC-funded ideas to progress on the path from ground-breaking research towards innovation.
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About Deutsches Zentrum für Neurodegenerative Erkrankungen, DZNE (German Center for Neurodegenerative Diseases): DZNE is one of the world’s leading research centers for neurodegenerative diseases such as Alzheimer’s, Parkinson’s and ALS, which are associated with dementia, movement disorders and other serious health impairments. These diseases place an enormous burden on patients and their families, but also on society and the economy of healthcare. DZNE contributes significantly to the development and translation into practice of novel strategies for prevention, diagnosis, care and treatment. DZNE comprises ten sites across Germany and collaborates with universities, university hospitals, research centers and other institutions in Germany and throughout the world. DZNE is state-funded and a member of the Helmholtz Association and of the German Centers for Health Research. https://www.dzne.de/en
https://www.dzne.de/im-fokus/meldungen/2026/eu-foerdert-bonner-neurowissenschaft... German version of this press release
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