News items Three Marie Curie Personal Fellowships for Radboud university medical center

23 May 2024

Three foreign researchers start scientific research in Radboud university medical center with a Marie Curie Personal Fellowship Grant. The Marie SkÅ‚odowska-Curie Actions fund excellent research and innovation and equip researchers at all stages of their career with new knowledge and skills, through mobility across borders and exposure to different sectors and disciplines. The MSCA helps build Europe’s capacity for research and innovation by investing in the long-term careers of excellent researchers.

Advancing Regenerative Therapies through Artificial Intelligence 

Gerry Koons en Sander Leeuwenburgh, Jeroen van den Beucken en Geert Litjens

Bone health is crucial for everyone, yet current treatments often overlook how regenerative approaches can be optimized for different people—especially men and women—who experience bone diseases like osteoporosis differently. This project uses cutting-edge artificial intelligence (AI)-based technologies to better understand and design treatments for bone conditions by focusing on these differences. By analyzing how bones regenerate in both sexes, especially in conditions like osteoporosis, the research aims to develop new, tailored biomaterials. These advanced materials will help in the design of personalized treatments that are adapted to individual needs, enhancing bone regeneration. This approach not only promises to improve outcomes for patients with bone diseases but also paves the way for innovative, sex-specific treatments in bone health, aligning closely with current needs in women’s health care.

Exploring the neurometabolic basis of FOXP family-associated developmental disorders 

Nicholas Raun and Annette Schenck

Energy metabolism is a key process in cognition, and a largely unexplored avenue for understanding developmental disorders like autism and intellectual disability. The FOXP family of proteins are associated with autism and intellectual disability and have recently been linked to mitochondrial health and metabolism in non-nervous tissues. In this project the researchers aim to establish mechanistic links between FoxP proteins, brain metabolism, and behaviour. To achieve their objectives, the researchers will use the powerful genetic model Drosophila melanogaster (the common fruit fly) to uncover defects in FoxP-deficient brains. With cutting edge microscopy tools, they hope to capture direct evidence that FoxP and its downstream gene network are impacting the balance of metabolites in key neurons associated with evolutionary conserved phenotypes in FOXP patients and models. To extend this project beyond molecular science, they also hope to treat my FoxP flies with gene and pharmaceutical interventions, reversing their metabolic and behavioural defects.

Advancing genomic technologies to estimate how ‘hidden’ mutations drive genomic disease 

Wolfram Hoeps and Alexander Hoischen

More than 5% of individuals carry a rare disease caused by genetic mutations. Some are mild in nature, such as an intolerance to certain foods, while others constitute severe physical or mental impairments. Genetic diagnoses are the key for providing personalised treatment and improving patients’ disease outlook. For most rare genetic diseases, however, clinical testing can only diagnose 1 in 2 patients, forcing millions into ‘diagnostic odysseys’, sometimes lifelong.  

In this study, the researchers are developing new computational tools based on ‘long read sequencing’, a novel genetic technology used to identify hard-to-spot mutations which cannot be resolved by conventional technologies, and which may underlie many undiagnosed diseases. Using new tools, they will systematically survey such ‘hidden’ mutations in 300 patients with undiagnosed diseases. The study will provide key insights into the biology of rare diseases and advance the state-of-art computational methods to survey such mutations.

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Pauline Dekhuijzen

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