Stephan Kemp
Principal investigator
Stephan Kemp grew up in Delft, the Netherlands. He received his Ph.D. from the University of Amsterdam in 1999 after completing translational research training at the Johns Hopkins University/Kennedy Krieger Institute in Baltimore, Maryland. In 1999, he and Dr. Moser co-founded the ABCD1 Variant Registry (www.adrenoleukodystrophy.info), a global reference database for clinicians interpreting genetic variants in ALD patients. For the past 25 years, Stephan has dedicated his career to understanding ALD. His research focuses on unraveling the disease’s pathophysiology, predicting clinical outcomes, developing new treatments, and implementing newborn screening programs. A key breakthrough in his team’s work was discovering that C26:0-lysophosphatidylcholine (LPC(26:0)) is a superior diagnostic biomarker to traditional methods. This discovery enables more accurate and accessible screening using dried blood spots. In 2023, Stephan played a pivotal role in launching the Dutch nationwide newborn screening program for ALD, making the Netherlands one of the first countries to screen newborns for this devastating disease. Most recently, Stephan led the Grey Zone Project, developing a risk-stratification framework that helps families and clinicians interpret uncertain genetic findings identified through screening. This reduces unnecessary anxiety and medical interventions. Stephan is currently a Full Professor of Inherited Neurometabolic Diseases and Newborn Screening at the University of Amsterdam’s Amsterdam UMC. Beyond his academic work, he serves on medical and scientific advisory boards across Europe and the United States, including as a board member of ALD Connect. His research exemplifies translating laboratory discoveries into real-world impact for patients and families affected by rare diseases.
Marc Engelen
Principal investigator
Marc Engelen was born and raised in France. He received his M.D. from the University of Amsterdam in 2002. He then trained as a neurologist and subspecialized in pediatric neurology at the Amsterdam University Medical Center, earning his Ph.D. in 2012 with a thesis titled “Translational Studies in Adrenoleukodystrophy”. His clinical work focuses on the full spectrum of neurological diseases in children, particularly leukodystrophies and peroxisomal disorders. In 2015, the center was designated a national expert center for peroxisomal diseases, and Marc played an instrumental role in establishing the Amsterdam Leukodystrophy Center. The center follows nearly all leukodystrophy patients in the Netherlands and provides international second opinions for suspected cases. One of the defining features of Marc’s research is the Dutch ALD Cohort, a prospective patient registry that he established in 2015. The cohort currently includes more than 180 ALD patients, for whom detailed longitudinal follow-up data has been collected since 2015. This data includes clinical assessments, imaging results, and biobank samples. This longitudinal dataset has transformed our understanding of disease progression in men and women with ALD, revealed new insights into symptom occurrence and severity, and established clinical trial readiness for this rare disease. The cohort’s data have been instrumental in identifying novel outcome measures and biomarkers that correlate with disease severity and predict progression. These discoveries are now being used to design clinical trials and unravel ALD’s underlying pathophysiology. Marc currently serves as head of the Department of Pediatric Neurology at the University of Amsterdam’s Amsterdam UMC. Beyond his clinical and research responsibilities, he is deeply committed to translating scientific discoveries into meaningful treatments for patients. His work demonstrates the critical role of natural history studies and biomarker research in advancing therapeutic development for rare neurodegenerative diseases.
Vivi Heine
Principal investigator
Vivi Heine received her Ph.D. in neurobiology from the University of Amsterdam in 2004. She then completed postdoctoral fellowships at the Dana-Farber Cancer Institute at Harvard University and the University of California, San Francisco, developing expertise in stem cell biology and regenerative medicine. Her research focuses on understanding the critical role of glial cells in the pathophysiology of neurodevelopmental and neuropsychiatric conditions. She uses induced pluripotent stem cell (iPSC) technology to generate patient-derived neural models, which enable the study of human neuron-glia interactions that cannot be captured in animal models. A pioneer in translating iPSC technology into research applications, she established the iPSC Core Facility at Amsterdam UMC. Her laboratory develops optimized protocols for creating iPSC-derived neurons, astrocytes, oligodendrocytes, microglia, and brain organoids. These models are characterized using advanced microscopy, electrophysiology, proteomics, and high-content screening to identify disease mechanisms and therapeutic targets. Her research encompasses several neurological disorders, including 4H leukodystrophy, adrenoleukodystrophy, Zellweger disease, GRIN2B, tuberous sclerosis complex, and schizophrenia. Vivi is a Full Professor of Human Model Systems at Amsterdam UMC and Vrije Universiteit Amsterdam, Scientific Director of iPSC Core Services, Board member of Dutch Society for Human Genetics, Board member of Emma Center of Personalized Medicine, and Coordinator of the iPSC Biobank at Amsterdam UMC. Her work bridges fundamental neuroscience with clinical applications, demonstrating how patient-derived models can accelerate targeted treatment development.
Yorrick Jaspers
Postdoctoral researcher
Yorrick Jaspers, Ph.D., is a postdoctoral researcher and lipidomics expert at Amsterdam UMC. He earned his bachelor’s degree in chemistry from Leiden University of Applied Sciences and a joint master’s degree in chemistry, specializing in analytical science, from the University of Amsterdam and Vrije Universiteit Amsterdam. During his studies, he worked as an analytical chemist at Leiden University, focusing on metabolomics and lipidomics. For his master’s thesis at Utrecht University, he developed novel mass spectrometry-based proteomics methods. He then completed his Ph.D. under the supervision of Stephan Kemp, and Marc Engelen, and Gajja Salomons. His doctoral thesis, titled “Navigating the Lipidomic Landscape of Adrenoleukodystrophy” focuses on developing and applying advanced lipidomics methods to study lipid metabolism dysregulation in ALD. He pioneered a 4D lipidomics platform for structural lipid analysis in ALD fibroblasts and was the first to identify plasma-based prognostic very long-chain fatty acid (VLCFA)-lipid biomarkers for cerebral ALD. Yorrick has extensive expertise in high-resolution mass spectrometry, multidimensional MS data processing, lipid annotation, and statistical biomarker–phenotype analysis. He bridges the gap between analytical chemistry and clinical translation by overseeing assay development, data integration, statistical validation, and cross-disciplinary coordination. In recognition of his contributions, Yorrick received the inaugural Jelte NextGen Award.
Inge Dijkstra
Research technician
Inge Dijkstra is a research technician at the Laboratory Genetic Metabolic Diseases at Amsterdam UMC. After earning her Bachelor of Science in biochemistry in 2005, she joined Stephan Kemp and Marc Engelen to focus on ALD. For over 20 years, she has been a vital member of Team ALD, providing critical laboratory support for ALD research. Inge plays a central role in developing, validating, and implementing advanced diagnostic methods as well as stable-isotope-labeled, fatty acid-based methods for analyzing peroxisomal beta-oxidation and very long-chain fatty acid (VLCFA) synthesis. She has also validated the X-counter and C26:0-lysophosphatidylcholine (LPC(26:0)) measurements for ALD newborn screening (tiers 2 and 3). Her work has been instrumental in optimizing newborn screening protocols, lipidomics profiling, and biomarker discovery for ALD disease severity and progression. She contributes to multiple studies on ALD pathophysiology, clinical correlations, and newborn screening implementation, including the Dutch SCAN study. Inge’s expertise in analytical biochemistry and high-throughput metabolomics ensures reliable, and reproducible data bridging laboratory findings and clinical translation. These efforts support improved diagnosis, risk stratification, and patient care in ALD.
Eda Kabak
PhD candidate
Eda Kabak, MD, is a physician-researcher at Amsterdam UMC with expertise in neurology and a strong clinical and scientific focus on ALD. After earning her medical degree, she began her career as a resident in gynecology and obstetrics, driven by her longstanding interests in gynecology and neurology. She later transitioned fully to neurology and joined the Pediatric Neurology department at Amsterdam UMC to pursue her Ph.D. As an active member of Team ALD, she provides specialized neurological care to ALD patients in the outpatient clinic. Her Ph.D. research integrates clinical trial participation with studies on the natural history of ALD, identification of novel surrogate outcome measures using advanced MRI techniques, and biomarker discovery. She also contributes to pathology projects aimed at deepening the understanding of disease mechanisms and progression. Her work bridges direct patient care with translational research, supporting improved ALD diagnosis, monitoring, and therapeutic development. With her multidisciplinary background and commitment to rare neuro-metabolic diseases, Eda is a key contributor to advancing clinical management and research outcomes in this complex disorder.
Nicki Coveña
PhD candidate
Nicki F. Coveña is a Ph.D. candidate at Amsterdam UMC. After earning a Bachelor of Science in Psychobiology and a Master of Science in Biomedical Sciences (Molecular Neuroscience) from the University of Amsterdam, Nicki joined Team ALD as a Ph.D. student. In Vivi Heine’s stem cell laboratory, he focuses on iPSC-based disease modeling. Using human induced pluripotent stem cell (iPSC)-derived and microglia-containing experimental models, Nicki studies the effects of ALD on microglia and how these changes contribute to central nervous system pathology. Through the use of various techniques, including transcriptomics, lipidomics, immunofluorescent imaging, and biochemical assays, Nicki aims to improve the molecular understanding of ALD and support the development of therapeutic strategies that consider the role of microglia.
Marije Voermans
Clinical research associate
Marije Voermans has an MSc and works as a clinical research associate in the Department of Pediatric Neurology and the Amsterdam Leukodystrophy Center. With more than 10 years of experience in clinical research, she plays an essential role in Team ALD and the broader leukodystrophy research program at Amsterdam UMC. She oversees all ALD clinical studies at Amsterdam UMC and serves as the organizational backbone of the research team. She is invaluable in designing, planning, and executing our natural history studies, including the Dutch ALD Cohort and ongoing clinical trials. Her meticulous approach to data acquisition and study management ensures high-quality, comprehensive datasets that form the foundation of our research discoveries. Marije’s dedication and expertise are invaluable assets, bridging the essential gap between research design and practical implementation. The success of our translational research depends fundamentally on the robust clinical data that Marije helps collect and maintain.
Roberto Montoro Ferrer
PhD candidate
Roberto Montoro Ferrer
Hemmo Yska
Postdoctoral researcher
Hemmo A.F. Yska, M.D., Ph.D., was born and raised in Rotterdam. He earned a Bachelor of Science degree with a focus in biomedical and life sciences and a minor in law from University College Roosevelt in Middelburg. His bachelor’s thesis at the Sophia Children’s Hospital in Rotterdam, which focused on non-invasive monitoring of neonatal microcirculation, sparked his interest in clinically oriented research. He then trained as a physician-clinical researcher in the Selective Utrecht Medical Master (SUMMA) program at Utrecht University, focusing particularly on rare diseases and pediatrics. He completed his master’s thesis at Hôpital Necker in Paris. He then joined the Department of Pediatric Neurology at Amsterdam UMC, where he pursued his Ph.D. under the supervision of Marc Engelen, Stephan Kemp, and Marjo van der Knaap. His doctoral thesis, “From Tissue to Clinical Practice and Back Again: A Translational Approach to Adrenoleukodystrophy,” which he defended in October 2024, bridges fundamental insights into ALD pathophysiology with direct clinical applications. His work spans axonal degeneration, astrocyte pathology, quantitative MRI of normal-appearing white matter, plasma lipidomics, wearable accelerometers as outcome measures for spinal cord disease, and newborn screening policy, reflecting a genuinely translational approach to leukodystrophy research. Hemmo is currently a postdoctoral researcher at the Paris Brain Institute (ICM) in Professor Fanny Mochel’s team.
Stephanie van de Stadt
Neurology resident
Stephanie van de Stadt, M.D., Ph.D., was born and raised in Blaricum, Netherlands. She earned her medical degree from VU University Amsterdam in 2017 while also completing volunteer work and research internships abroad. After graduating, she worked as a non-training neurology resident at Flevo Hospital and the Onze Lieve Vrouwe Gasthuis in Amsterdam.
In 2018, she joined the Department of Pediatric Neurology at Amsterdam UMC as a Ph.D. candidate under the supervision of Marjo van der Knaap, Marc Engelen, and Stephan Kemp. She conducted a three-year prospective cohort study on X-linked adrenoleukodystrophy (ALD) — the Dutch ALD cohort. Her doctoral thesis, Clinical, Biochemical, and Radiological Insights in X-linked Adrenoleukodystrophy, provides a comprehensive overview of the natural history of ALD, its biomarkers, and neuroimaging.
Currently, she is a neurology resident at Erasmus Medical Center in Rotterdam.
Irene Huffnagel
Researcher Rathenau Institute
Irene C. Huffnagel, M.D., Ph.D., was born in Leiderdorp, Netherlands, and spent part of her childhood in Beijing. She then returned to the Netherlands, where she graduated cum laude from the Stedelijk Gymnasium Leiden. In 2015, she completed her medical degree cum laude at the University of Amsterdam (Amsterdam UMC), with a research internship in the Department of Pediatric Neurology focusing on cardiac defects in Rhizomelic Chondrodysplasia Punctata. This experience sparked her enthusiasm for researching rare peroxisomal disorders.
She subsequently joined Team ALD at Amsterdam UMC as a Ph.D. candidate under the supervision of Bwee Tien Poll-The, Marc Engelen, and Stephan Kemp. Her doctoral thesis, “Life Unexpected: Unraveling the Natural History of Adrenoleukodystrophy,” was based on a prospective cohort study of X-linked ALD, contributing to the international understanding of ALD natural history and expanding collaborations with leading expertsworldwide.
Irene currently works as a researcher at the Rathenau Institute, applying her expertise in rare diseases and clinical research to broader questions at the intersection of science, technology, and society.