University Medical Centre Groningen: Laboratorium Metabole Ziekten

By: Dr. J. (Joost) Groen

What kind of research does your research group conduct?

We conduct clinical research on inborn errors of metabolism. Our focus is on metabolomics and fluxomics studies on inborn errors of metabolism and the using of AI and machine learning to improve diagnosis and patient care.

How is this related to rare diseases/orphan drugs?

Inborn errors of metabolism are almost all rare diseases, so orphan drug play a big role in our field. Examples are the use of sapropterin dihydrochloride in phenylketonuria,  nitisinone in tyrosinemia 1 and several forms of enzyme replacement therapy for lysosomal storage disorders. We perform studies in collaboration with our metabolic team to study the biochemical effects of different orphan drugs.

What has been your latest “discovery” related to rare diseases/orphan drugs?

We have ongoing studies for different orphan drugs and continue to be excited by e.g. the effectiveness of Kuvan in our BH4-responsive phenylketonuria patients.

What do you find the most fascinating about rare diseases/orphan drugs?

The most fascinating thing is truly understanding the biochemical mechanism of a disease and understanding why certain drugs could be used to help treat patients with a rare disease. It’s truly exciting to then see the effects of these drugs on patients’ lives.

How big is your research group?

Our group consists of two clinical chemists, 15 biomedical technicians and a bioinformatician.

Where is your research group located at the Campus?

Our laboratory is a part of the department of laboratory medicine and is located in the University Hospital above the Winkelstraat.

Can students do an internship at your research group? And if yes, who should they contact?

They sure can! They can contact either dr. Rebecca Heiner-Fokkema or dr. Joost Groen. We almost always have exciting internships.