On June 3, Sander Jarrelfs will receive his Ph.D. from the University of Amsterdam for his research into primary hyperoxaluria (PH). The studies described in his dissertation focus on the basic pathophysiology, clinical features, disease course and optimal treatment of PH patients.
PH is a group of genetic disorders in which the enzyme AGT does not function properly in the liver and glyoxylates are converted to oxalic acid. Overproduction of oxalic acid leads to kidney stones, renal calcification, and eventually renal failure and systemic oxidation. PH is rare, but the burden of disease is high for individual patients and their families. Because the course of the disease is unpredictable, it leads to a lot of uncertainty throughout life.
Until recently, liver transplantation was the only curative treatment for PH, but it has recently been discovered that RNA interference (RNAi) therapy can be used. With the help of RNAi, the production of certain proteins in the liver is inhibited, which reduces the production of oxalic acid. This new treatment represents a significant expansion of treatment options and may significantly improve the prognosis of patients with PH.
Garrelfs wrote his thesis titled ‘Primary hyperoxaluria: no longer stuck between a rock and an anvilUnder the supervision of the promoters Prof. Dr. J. W Grothoff, Prof. Dr. RJA Wanders, and Co-Promoter Dr. MGS Osterfeld.
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