I am a full professor at Amsterdam UMC, University of Amsterdam, specializing in ALD. As project leader, I led the development of a boys-only screening algorithm for ALD that has been implemented nationwide in the Dutch newborn screening program since October 2023. I founded the ABCD1 Variant Registry (www.adrenoleukodystrophy.info) and am actively involved with patient organizations and serve on medical and scientific boards in Europe and the United States, including ALD Connect. Our team collaborates with ALD physicians and researchers around the world to foster open communication. We specialize in translational research, which bridges basic science and clinical advances to advance the field of ALD.
Main Area of Research: Improve diagnostic tests and increase access to ALD diagnostic testing for the wider ALD community. Develop a prognostic test for risk stratification based on our lipidomics and genetics research projects. Monitor and evaluate ALD newborn screening results. Address the growing problem of variants of uncertain significance (VUS) in ABCD1 and develop methods to reclassify them to benign or pathogenic.