The Gerrit Jan Mulder Foundation awards an annual prize for the best master thesis at Erasmus MC. The foundation hopes to stimulate the exchange of information among researchers. This year, Mashiro van Dal (right) and Midas van den Tweel (left) won the prize. In addition to the title, the winners also receive a monetary award.
Rare Genetic Brain Disorder
Marshiro van Dal studied the research master Molecular Medicine. For her master thesis, she investigated the Barakat-Perenthaler syndrome, a rare genetic brain disorder that causes a severe therapy-resistant form of epilepsy.
Mashiro explains: ‘The cause lies in a gene UDP-Glucose-Pyrophosphorylase 2 (UGP2), which plays a crucial role in sugar metabolism. In our DNA, everyone has two ‘recipes’ to make this enzyme: a fast and a long variant. In our brains, the long recipe is ‘turned off,’ and in patients with the syndrome, the fast recipe is broken. So, there is no functioning recipe left for them. The brain can no longer use sugar as an energy source. The prognosis is very poor, and to this day, there is no effective medication.’
Mashiro had two main goals: understanding the regulation of the UGP2 enzyme in the brain and repairing the (broken) fast recipe. Mashiro says: ‘After all, we don’t know why the long recipe of UGP2 is turned off in our brains. The clue may lie in the non-coding part of your DNA, whose function was unknown for a long time and was also known as ‘junk DNA’. We now know that part is indeed involved in various essential processes. During my graduation research, I developed various cell lines and zebrafish models to map that out.’
With the monetary award, Mashiro treated the lab to dinner. Mashiro says: ‘It’s a prize for the whole lab, of which I had the honor to be a part.’ She now works as an AIOS in the Pathology department. ‘I hope to one day bridge the gap between clinical practice and diagnostics and science.’
Bile Duct Complication after Postmortem Liver Transplantation
Medical student Midas researched the different manifestations of post-transplantation cholangiopathy (PC), one of the most feared bile duct complications after a deceased donor liver transplantation.
The complication is characterized by changes in the donor’s bile ducts. There is also a connection with reduced blood supply (ischemia) during transplantation. Midas says: “PC is not one entity but a collective term for various forms of bile duct damage, each with its own clinical course. By classifying the different forms with radiology, we may be able to say something about the prognosis. The outcomes are therefore useful in daily liver transplantation practice.”
Midas: ‘After completing my master thesis, my supervisor encouraged me to submit an abstract for two conferences: the annual congress of the Dutch Transplantation Society and the European transplantation congress in Greece. To our great delight, both submissions were accepted for oral presentation. It was a great experience!’
With the prize money, Midas could cover the travel expenses. Midas says: ‘My laptop also suffered from all the large Excel files. It’s time for a replacement; some of the money can go there too.’
