Tailoring treatments for rare metabolic diseases
How do you find a solution for a disease so rare that sometimes only one patient a year is diagnosed? During his PhD, Imre Schene addressed this question for hereditary metabolic diseases in children. He successfully defended his thesis on March 19, 2026.
Metabolic diseases are a large group of innate disorders caused by an error in the genetic material. Because of this error, a protein can no longer properly convert one substance into another. The symptoms that arise depend on the specific defect.
“There are hundreds of different conditions, and some are extremely rare,” Imre explains. “For some diseases we may see only one or two patients per year. As a result, there is often no commercial incentive to develop drugs, and only about 30% of these rare diseases have an effective treatment.”
During his PhD, Imre therefore worked on new ways to study these diseases and potentially treat them. He conducted this research under the supervision of Sabine Fuchs, Edward Nieuwenhuis, and Peter van Hasselt.
About Regenerative Medicine Utrecht
Regenerative Medicine Utrecht(RMU) is a world-renowned collaboration of excellent knowledge institutes and start-ups, located at the Utrecht Science Park. We bring together researchers from UMC Utrecht, Utrecht University (UU) and the Hubrecht Institute. Our focus is on restoring health and vitality instead of symptom control. By repairing, replacing, or regenerating cells, tissues, and organs, we aim to cure patients.