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MHH Human Genetics is improving the diagnosis of rare diseases in order to tailor treatments for critically ill newborns and children.
Around four million people in Germany suffer from one of the many different, mostly genetically caused rare diseases. Most of them are children, some of whom also require intensive care. Helping them receive a diagnosis more quickly and, building on that, improving their treatment in a targeted manner – that is the goal of many doctors and researchers. An interdisciplinary team led by Dr. Bernd Auber from the Institute of Human Genetics at the Medical University (MHH) has now come a step closer to this goal – with the new AI-LIGHTS project.
“With AI-LIGHTS, we aim to make the diagnosis of rare genetic disorders in critically ill newborns and children faster and more reliable, to gain a better understanding of disease mechanisms, and to enable more targeted therapeutic decisions,” says Dr. Auber. A total of 400 young, critically ill newborns and children are to be enrolled in the study; these are being treated in the intensive care units at MHH and are suspected of having a rare disease. Their genetic material will be examined using so-called modern long-read genome sequencing. This involves analysing very long DNA segments, which allows even complex genetic changes to be better identified. Additional technologies will also be used, for example to analyse gene regulation, proteins and other metabolic products.
The project will begin on 1 June 2026, run for four years, and receive funding of around €4.3 million from the State of Lower Saxony and the Volkswagen Foundation as part of the zukunft.niedersachsen programme. The team comprises researchers and clinicians from the MHH, Leibniz University Hannover and the Technical University of Braunschweig. The MHH will receive approximately 75 per cent of the funding. AI-LIGHTS stands for “AI-assisted Long-read Genomics and Integrated OMICs for Healthcare Solutions”.
From diagnosis to personalised treatment
The project builds on the Baby Lion study, in which ultra-rapid genome sequencing was established at the MHH for critically ill children. It was demonstrated that genetic diagnoses can be made within a very short time in almost half of the children and that they can have an immediate impact on treatment: in more than 70 per cent of children with a genetic diagnosis, the treating doctors reported a concrete clinical benefit.
AI-LIGHTS is now taking things a step further: in addition to speed, the focus is primarily on more comprehensive genetic analysis, a better understanding of disease mechanisms, and the analysis of data using artificial intelligence. The aim is to further improve diagnoses, better predict individual disease progression, identify commonalities between different rare diseases, and systematically investigate the concrete benefits of this enhanced diagnostics for patient care.
The consequences of genes
There are currently around 9,000 different rare diseases known. A disease is considered rare if it affects no more than five in every 10,000 people. An early diagnosis can be crucial for those affected: not only does it make it easier to manage the condition, but in many cases it also allows for more targeted treatment.
For example, epileptic seizures are a common symptom among the children to be included in the study. “If we diagnose the genetic cause of their condition, there is a possibility of personalising their treatment and thus reducing the number of seizures or even bringing the condition to a complete halt,” says Dr. Auber. In the case of metabolic disorders, too, a genetic diagnosis can have immediate therapeutic implications – for instance, through specific dietary adjustments or enzyme replacement therapy. Furthermore, identifying the causative genetic mutation forms the basis for future, individually tailored therapeutic approaches, including gene therapy.
Close collaboration between medicine, the natural sciences and computer science
The project thrives on close collaboration between medicine, the natural sciences and computer science. On the MHH side, participants include the Institute of Human Genetics, the Centre for Paediatrics and Adolescent Medicine, the Peter L. Reichertz Institute for Medical Informatics (PLRI), the Hannover Unified Biobank (HUB) and the Central Research Facility for Proteomics.
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For further information, please contact Dr. Bernd Auber, auber.bernd@mh-hannover.de.
In the paediatric intensive care unit at the MHH (from left): Professor Dr. Helena U. Zacharias (PLR ...
Copyright: Karin Kaiser/MHH
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In the paediatric intensive care unit at the MHH (from left): Professor Dr. Helena U. Zacharias (PLR ...
Copyright: Karin Kaiser/MHH
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