“Hora est!” On October 14, Dr. Hemmo Yska successfully defended his Ph.D. dissertation, titled “From Tissue to Clinical Practice and Back Again: A Translational Approach to Adrenoleukodystrophy”, at the Agnietenkapel at the University of Amsterdam in the Netherlands. [Click to read more ▼]
His dissertation provides a translational approach to ALD, bridging fundamental insights into pathophysiology with direct clinical applications. The dissertation deepens our understanding of ALD pathology at the cellular level. It evaluates the hypothesis that axonal degeneration with secondary demyelination is central and proposes a comprehensive theory that highlights the understudied role of astrocytes. Quantitative MRI reveals early changes in tissue at the level of normal-appearing white matter, highlighting the significant involvement of axons and myelin. Lipidomics in plasma reveals distinct profiles in severely affected patients. Meanwhile, wearable accelerometers offer reliable outcome measures for spinal cord disease that correlate with fall risk and traditional disability scales. The research shows that patients with more severe baseline disease experience faster spinal cord deterioration—an important consideration for clinical trials. Finally, exploring attitudes toward newborn screening reveals that most patients favor screening both boys and girls, offering valuable guidance for future policy.
The promotors, Marc Engelen, Stephan Kemp, and Marjo van der Knaap, would like to thank the members of the thesis committee: Annet Bosch, Carla Hollak, Fanny Mochel, Liesbeth Reneman, Marianna Bugiani, and Marielle Brouwer for their insightful and engaging feedback.