What happens when a single genetic mutation affects not just one organ, but several? This is the question guiding another exciting project supported by the GENeHOPE Fund in 2025.
Mutations in the NPHP3 gene can cause a rare disease known as a ciliopathy, often leading to kidney failure in children. Scientists have discovered that the pancreas may also be involved, making the disease even more complex.
The project brings together the expertise of Prof. Patrick Jacquemin (de Duve Institute, UCLouvain, Brussels) and Dr. Sophie Saunier (Institut Imagine, Paris). By combining fundamental research with preclinical studies, they aim to understand how the kidney and pancreas interact in this rare disease and explore potential avenues for future treatments.
Behind every rare disease are real families searching for answers. By studying multi-organ interactions, this project hopes to uncover new insights that could improve the lives of children affected by NPHP3-related ciliopathies.
In this video interview, Prof. Jacquemin shares his perspective on the challenges and opportunities of this research, explaining why it could transform how we understand and treat rare childhood diseases.
