جستجوی استاد راهنمای دانشگاهی

Professor Alain de Bruin (born 1968) is a distinguished academic at Utrecht University, serving as Professor in the Department of Biomolecular Health Sciences within the Faculty of Veterinary Medicine. Since January 1, 2020, he has been Head of the Department of Biomolecular Health Sciences. His academic journey began with veterinary medicine studies at the University of Hannover in Germany, followed by a PhD from the University of Bern in Switzerland in 1999. After specializing in veterinary pathology and completing a postdoctoral position at Ohio State University, he was appointed professor of pathobiology at Utrecht University in 2005. In 2010, he founded the Netherlands Molecular Pathology Center (UU/UMCG) and became an honorary professor of molecular pathology at the University of Groningen in 2014. Professor de Bruin's research primarily focuses on cancer biology, liver pathology, tumor suppression mechanisms, and aging processes. His expertise includes in vivo modeling, cell cycle analysis, generating transgenic mouse models, pathological analysis of animal disease models, and single-cell transcriptomics. His work centers on proteins that regulate cell proliferation, particularly E2F transcription factors, which he has discovered play critical roles in inhibiting cancer cell growth. His research themes span Life Sciences, Regenerative Medicine, and the Utrecht Platform for Organoid Technology. Analysis of his recent publications reveals a consistent research trajectory centered on cell cycle regulation, particularly the atypical E2F transcription factors (E2F7 and E2F8), and their roles in cancer development, polyploidization, and liver disease. His work demonstrates how these factors influence tumor suppression, angiogenesis, and cellular responses to DNA damage. The publications span multiple disciplines including cancer biology, molecular oncology, hepatology, and regenerative medicine, with applications in both human and veterinary medicine. Professor de Bruin has held significant leadership positions, including chairing the research council (2017-2019) and coordinating the 'Regenerative Medicine, Stem Cells, and Cancer' research program (2013-2019). He serves on the editorial board of 'Frontiers in Cell and Developmental Biology' and participates in review committees for NWO-Rubicon/Veni, the research alliance UTwente/UU/UMCU, and the Comprehensive Cancer Center at Ohio State University. His laboratory work has made significant contributions to understanding how E2F transcription factors regulate cell proliferation, with implications for developing novel cancer therapy strategies. His research on polyploidization mechanisms has provided insights into liver regeneration and tumor development, while his work on senescence has implications for aging-related diseases.

• Cancer
• Liver Pathology
• Tumor Suppression
• +۶ مورد دیگر

Ans T. van der Ploeg is a Full Professor in the Department of Pediatrics at Erasmus MC, a leading academic medical center in the Netherlands. Her work is centered on rare metabolic and neuromuscular disorders, particularly Pompe disease (Glycogen Storage Disease Type II), where she has made significant clinical and research contributions. Her research interests include: Enzyme Replacement Therapy Lysosomal Storage Diseases Pompe Disease Pathophysiology and Management Patient Quality of Life and Fatigue Real-World Evidence in Rare Diseases Neuromuscular and Pediatric Metabolic Disorders Recent publications highlight her leadership in clinical trials, patient-centered outcomes, and international collaborations, especially within the ERN EURO-NMD network. Her work spans high-impact journals such as The Lancet Neurology and Orphanet Journal of Rare Diseases . The trends in her recent articles show a consistent focus on: Improving therapeutic delivery (e.g., home infusion) Evaluating long-term treatment outcomes Understanding patient-reported outcomes Advocating for robust real-world data in rare disease regulation Collaborative European research initiatives Clinical guidelines and awareness among healthcare providers While no specific scientific awards are listed in the provided text, her extensive publication record (276 research outputs) and supervision of 34 research works reflect significant recognition and academic leadership. She has supervised numerous students and early-career researchers, contributing to training in rare disease medicine. Although specific grants are not mentioned, her involvement in multi-center clinical trials and European networks suggests substantial grant funding and collaborative support. Her work is deeply integrated into clinical practice and policy development for rare diseases. She is actively involved in research teams focusing on metabolic disorders and participates in international consortia such as ERN EURO-NMD, facilitating cross-border collaboration to improve diagnosis, treatment, and patient support for rare neuromuscular conditions.

• Metabolic Storage Disorders
• Pompe Disease
• Glycogen Storage Disease Type II
• +۷ مورد دیگر

Prof. G.Peter A. Smit is a Professor at the Faculty of Medical Sciences, University of Groningen. His research focuses on metabolic diseases, particularly glycogen storage disorders, inflammatory bowel disease, and pediatric nutritional management. He collaborates internationally on studies involving diagnostic imaging (e.g., muscle ultrasound), dietary protocols, and genetic analysis. Education: His academic background includes advanced training in pediatrics and metabolic medicine (university details not explicitly stated). Research Interests: Smit explores the clinical and biochemical aspects of inherited metabolic disorders, emphasizing translational research to improve patient care. His work combines molecular diagnostics, nutritional interventions, and longitudinal clinical studies. Recent efforts involve dynamic gastrointestinal modeling to optimize dietary strategies for hepatic glycogen storage disease patients. Professional Activities: He maintains a clinical role as a pediatrician specializing in metabolic diseases and serves as a consultant at Talant Drachten/Beetsterzwaag. His publications (2014-2017) highlight interdisciplinary approaches to understanding disease mechanisms and improving diagnostic tools.

• Pediatrics
• Metabolic Diseases
• Glycogen Storage Disease
• +۳ مورد دیگر

Dr. Janneke Langendonk is a Researcher in the Department of Internal Medicine at Erasmus University Medical Center in Rotterdam, Netherlands. Her work focuses on rare metabolic disorders and their clinical management, with particular expertise in photosensitivity conditions and inborn errors of metabolism. Her primary research interests include: Erythropoietic Protoporphyria and related photosensitivity disorders Inborn Errors of Metabolism Bone health in patients with limited sunlight exposure Hepatic encephalopathy treatments Endocrine disorders including pancreatic neuroendocrine tumors Dr. Langendonk's recent research has examined the impact of minimal sunlight exposure on bone health in erythropoietic protoporphyria patients, investigated treatments for hepatic encephalopathy, and documented the frequencies of various inborn errors of metabolism in adult metabolic centers. Her work often involves cohort studies and systematic reviews to advance understanding of rare conditions that affect small patient populations. She has presented her research on erythropoietic protoporphyria treatment at academic conferences, with her work gaining attention from multiple news outlets and social media platforms including X (formerly Twitter) and Bluesky. Her invited talk in August 2022 on this topic was covered by 4 news outlets and shared by 16 X users. Dr. Langendonk has supervised at least two students or junior researchers and maintains an active research profile with 112 research outputs including articles, book chapters, and review articles. Her collaborative approach is evident in her international co-authorships across multiple publications.

• Erythropoietic Protoporphyria
• Afamelanotide
• Inborn Errors of Metabolism
• +۷ مورد دیگر

Dr. Maaike Oosterveer is an Associate Professor at the University Medical Center Groningen, Department of Pediatrics, specializing in metabolic diseases research. Her work primarily focuses on glycogen storage disorders, diabetes mechanisms, and metabolic pathways using mouse models as key research tools. She maintains active collaborations across the Netherlands and internationally in the field of metabolic research. Dr. Oosterveer's research interests center around understanding metabolic disorders at molecular and physiological levels, particularly glycogen storage diseases (GSD) types Ia and Ib, gestational diabetes, and liver metabolism. Her laboratory employs sophisticated mouse models to investigate how metabolic pathways are disrupted in disease states and how these disruptions affect whole-body metabolism. A significant portion of her work examines the role of transcription factors like ChREBP in regulating carbohydrate metabolism and their implications for metabolic disease pathology. Analysis of Dr. Oosterveer's recent publications reveals a strong focus on translational metabolism research, particularly in glycogen storage diseases and gestational diabetes. Her work bridges basic science with clinical applications, using both mouse models and human patient studies. The research consistently examines metabolic pathways, with particular attention to glucose homeostasis, lipid metabolism, and the molecular mechanisms underlying metabolic disorders. Her scientific achievements have been recognized with prestigious awards: VIDI grant from the Dutch Research Council (2017) Rosalind Franklin Grant (2014) Dr. Oosterveer actively supervises research projects, with 12 supervised works documented in her profile. She has secured competitive research funding through major Dutch grants that support her independent research program. She is an active organizer in the metabolic research community, having co-founded the Dutch Translational Metabolism Conference (DTMC) in 2022 and 2023, and serves on the board of the Dutch United for Metabolic Diseases Consortium (UMD) since 2021. Her laboratory specializes in mouse models of metabolic disease, particularly focusing on glycogen storage disorders and gestational diabetes. The research team employs comprehensive metabolic phenotyping approaches, including isotope tracer studies, lipidomics, and detailed molecular analyses to understand disease mechanisms and identify potential therapeutic targets.

• Metabolism
• Glycogen Storage Disease
• Mouse Models
• +۴ مورد دیگر

Laurike Harlaar is a Researcher in the Department of Neurology at Erasmus University Medical Center in Rotterdam, Netherlands. Her work focuses on neuromuscular disorders, particularly Pompe disease and diaphragmatic function assessment using MRI technology. Her research interests include: Glycogen Storage Disease Type II (Pompe disease) Magnetic Resonance Imaging applications in neuromuscular disorders Diaphragm function and weakness in rare diseases Neuromuscular disease progression and monitoring Enzyme Replacement Therapy outcomes Dr. Harlaar has published extensively on Pompe disease and diaphragmatic function, with her research demonstrating how MRI can detect early signs of diaphragmatic weakness before traditional spirometry measurements show abnormalities. Her work bridges imaging technology and clinical application for rare neuromuscular disorders, particularly focusing on respiratory complications. Her publications show consistent progression in understanding diaphragmatic motion changes, curvature alterations, and their correlation with clinical outcomes in Pompe disease patients. Dr. Harlaar completed her doctoral thesis titled "MRI analysis of diaphragmatic weakness and clinical variation in Pompe disease" in March 2023, which represents a significant contribution to the field of neuromuscular imaging. Her research has accumulated multiple citations across Web of Science and Scopus databases, with particular impact in the area of diaphragmatic dysfunction assessment.

• Glycogen Storage Disease
• Magnetic Resonance Imaging
• Diaphragm Function
• +۴ مورد دیگر

Ilse Sinke is a Researcher in the Department of Anesthesiology at Erasmus MC, Rotterdam, Netherlands, specializing in high-risk obstetric and pediatric anesthesia scenarios. Her work addresses critical clinical challenges including epidural analgesia complications, rare genetic disorders during delivery, and pediatric critical events. Her primary research domains feature: Epidural analgesia safety in obese parturients Management of postdural puncture headache in obstetrics Critical event epidemiology in pediatric anesthesia Anesthetic protocols for rare conditions (Pompe disease, SCN5A mutations) Publication analysis reveals consistent focus on evidence-based safety improvements through large-scale collaborative research. Her systematic reviews and multicenter observational studies (including the 261-hospital APRICOT study) directly influence obstetric and pediatric anesthesia guidelines, particularly regarding obesity-related complications and rare disease management. No scientific awards were documented in available sources. Student supervision activities and research grant details were not specified in the profile. She actively participates in international networks including the European Society of Anaesthesiology Clinical Trial Network, contributing to high-impact studies referenced in clinical guidelines and widely disseminated through academic platforms like Mendeley.

• Epidural Analgesia
• Obstetric Anesthesia
• Pediatric Anesthesia
• +۳ مورد دیگر

Hannerieke van den Hout is a researcher in the Department of Pediatrics at Erasmus MC, Faculty of Medicine. Her work is centered on rare metabolic and lysosomal storage disorders, with a strong focus on Pompe disease and enzyme replacement therapy. Research Interests: Dr. van den Hout's research spans rare diseases, metabolic disorders, and patient-centered outcomes. She investigates clinical pathways, treatment efficacy, and quality of life in children with Pompe disease. Her work contributes to international guidelines through collaborations with MetabERN and the European Pompe Consortium. Publication Trends: Her recent publications emphasize clinical recommendations, patient registries, and therapeutic strategies for rare diseases. The research integrates neurology, pediatrics, and pharmacology, with a growing focus on multistakeholder data systems and evidence-based treatment criteria. Scientific Contributions: Active contributor to clinical guidelines for Pompe disease Key participant in European rare disease networks Research on health-related quality of life in pediatric rare disease populations Advising and Grants: While specific grant details are not listed, her involvement in large consortia suggests participation in funded collaborative projects. She has supervised at least two research works, indicating an active mentoring role. Labs and Teams: Dr. van den Hout collaborates within Erasmus MC’s pediatric research unit and is part of international networks including the European Pompe Consortium and MetabERN’s Lysosomal Disorders subnetwork, contributing to coordinated research and clinical standardization efforts.

• Rare Diseases
• Metabolic Disorders
• Enzyme Replacement Therapy
• +۷ مورد دیگر

Dr. Hidde Huidekoper is a researcher in the Department of Pediatrics at Erasmus MC , affiliated with the Faculty of Medicine. His work focuses on inherited metabolic disorders, particularly in newborn screening, glycogen storage diseases, urea cycle disorders, and folate metabolism. His research spans clinical studies, cohort analyses, and European collaborative efforts such as MetabERN, contributing to clinical pathway development and treatment accessibility for rare metabolic conditions. Key research areas include: Glycogen Storage Disease Type II (Pompe Disease) Enzyme Replacement Therapy Newborn Screening Programs Metabolic Biochemistry and Blood Plasma Analysis Quality of Life in Pediatric Metabolic Disorders Folate and Carnitine Metabolism Defects Recent publications highlight trends in evaluating treatment accessibility, developing clinical guidelines, and assessing long-term outcomes in rare diseases. His work is frequently published in high-impact journals such as Orphanet Journal of Rare Diseases and Journal of Inherited Metabolic Disease . He has no listed scientific awards in the provided text. Dr. Huidekoper actively collaborates with European experts in metabolic diseases and contributes to multidisciplinary research networks. While no formal advisees are listed, his role involves significant research leadership and clinical investigation. There is no mention of specific labs or teams, but his involvement in MetabERN indicates integration into large-scale clinical research infrastructure.

• Inherited Metabolic Diseases
• Newborn Screening
• Glycogen Storage Disease
• +۷ مورد دیگر

Dr. M.H. (Maaike) Oosterveer is a Principal Investigator at the Faculty of Medical Sciences, University of Groningen. Her research focuses on metabolic diseases, nutrient sensing, and translational research. She holds a PhD in Medical Science from the University Medical Center Groningen (2009) and completed postdoctoral research at EPFL in Switzerland (2010–2012). Key honors include the NWO VIDI Grant (2017) and the Rosalind Franklin Fellowship (2013). Her expertise spans genetic metabolic disorders, stable isotope-based metabolic flux analysis, and transcriptional regulation. She leads projects funded by grants such as Stichting Metakids and collaborates on studies about gestational diabetes and liver metabolism. Press coverage highlights her work on metabolic models and animal testing ethics. Education: MSc Human Nutrition and Health (2003) PhD Medical Science, UMC Groningen (2009) Postdoc, EPFL, Switzerland (2010–2012) Research Focus: Biochemistry & Molecular Biology Endocrinology & Metabolism Genetic Metabolic Diseases Awards: NWO VIDI Grant (2017) Rosalind Franklin Fellowship (2013) Ter Meulen Fund Stipend (2010) Grants & Collaborations: NWO VIDI Grant Stichting Metakids Stichting Stofwisselkracht Her lab investigates metabolic pathways using ex vivo liver models and mouse systems, contributing to understanding gestational diabetes and liver dysfunction. Recent work includes studies on lipid signatures in glycogen storage diseases and postpartum metabolic disorders.

• Biochemistry & Molecular Biology
• Endocrinology & Metabolism
• Genetic Metabolic Diseases
• +۴ مورد دیگر

Dr. T.G.J. (Terry) Derks is a Physician Scientist at the Faculty of Medical Sciences , University of Groningen, specializing in pediatric metabolic diseases. He works at the University Medical Center Groningen (UMCG) and holds a University Teaching Qualification Certificate. Education: MSc in Medicine (1999), MD (2001), Pediatrics specialization (2010), Inborn Errors of Metabolism specialization (2013) External Roles: Chairman of Erfelijke Stofwisselingziektes Nederland (2019-2025), Board member of European Reference Network for Hereditary Metabolic Disorders (MetabERN), Member of Advisory Committee on Neonatal Screening for Metabolic Diseases His research focuses on inborn errors of metabolism , particularly glycogen storage diseases and fatty acid oxidation disorders . He investigates diagnostic protocols, dietary management, and emerging therapies like gene therapy for GSDIa. His 2025 publications include machine learning diagnostics for GSDIa, iPSC organoid modeling for MCAD deficiency, and DNA-first newborn screening frameworks. Scientific contributions include: Awards: Garrod Award (2017), Beatrix Children's Hospital Teaching Price (2022), Mandema Stipend (2009) Leadership: Chairman of Summer School Pediatrics (2013), Organizer of international postgraduate courses Education: Coach for Molecular Medicine Learning Community, developer of metabolic disease teaching modules Recent publications highlight collaborations in clinical trials (DTX401 gene therapy, mRNA-3745), machine learning for rare disease diagnostics, and international consensus statements on GSD management. His work bridges translational research and public health policy through neonatal screening innovations.

• Inborn Errors of Metabolism
• Pediatrics
• Neonatal Screening
• +۳ مورد دیگر

Dr. Rebecca Heiner-Fokkema is a Clinical Chemist specializing in inborn errors of metabolism at the University of Groningen's Faculty of Medical Sciences. Her research encompasses: Newborn screening methodologies Metabolic disorder diagnostics Biochemical monitoring of inherited disorders Metabolomics applications Her extensive publication record demonstrates significant contributions to phenylketonuria research and neonatal screening programs. Research focuses include: Development of DNA-first newborn screening approaches Metabolic profiling in genetic disorders Biomarker discovery for treatment monitoring Point-of-care testing for metabolic diseases She actively contributes to international consortia evaluating tyrosinemia screening and develops novel diagnostic algorithms using machine learning approaches for rare metabolic conditions.

• Inborn Errors of Metabolism
• Newborn Screening
• Clinical Chemistry
• +۲ مورد دیگر

Nadine A.M.E. van der Beek is a Researcher at Erasmus MC's Neurology department, focusing on rare metabolic diseases, particularly Pompe disease (Glycogen Storage Disease Type II). Her work emphasizes clinical research, enzyme replacement therapy optimization, and interdisciplinary collaboration through networks like MetabERN and ERN EURO-NMD. Her research interests include defining clinical outcome thresholds, improving real-world evidence utilization, and developing standardized clinical pathways for rare disorders. Key contributions involve the COMET study for Pompe disease biomarkers and collaborative efforts to enhance patient care through multidisciplinary guidelines.

• Glycogen Storage Disease Type II
• Enzyme Replacement Therapy
• Neuromuscular Disorders
• +۳ مورد دیگر

Dr. Rebecca Fokkema serves as a Researcher within the Metabolism and Transport (MT) department at the Faculty of Medical Sciences, University of Groningen (UMCG). Her work focuses on inherited metabolic disorders with emphasis on phenylketonuria, newborn screening methodologies, and metabolic homeostasis. Her research interests span Phenylketonuria pathophysiology and treatment optimization Novel newborn screening approaches including DNA-first strategies Phenylalanine and creatine homeostasis mechanisms Dried blood spot monitoring for remote patient management Metabolic consequences of kidney transplantation Current work integrates machine learning with metabolomics for rare disease diagnosis. Recent publications demonstrate strong focus on translational applications, particularly in Glycogen storage disorder diagnostics using acylcarnitine profiles Individualized phenylalanine management in neurological contexts Treatability criteria for expanding newborn screening panels Her team actively contributes to European metabolic disorder research networks. Dr. Fokkema has supervised 4 research projects and delivered multiple professional presentations including 'Dried blood spot monitoring in Tyrosinaemia type I' (2020) and 'Aspartame in soft drinks across Europe' (2019). She has contributed to 16 research datasets with emphasis on mitochondrial fatty-acid oxidation disorders and metabolic modeling.

• Phenylketonuria
• Newborn Screening
• Phenylalanine Metabolism
• +۵ مورد دیگر

Pim Pijnappel is a Full Professor at Erasmus University Medical Center (Erasmus MC), affiliated with the Department of Clinical Genetics and the Department of Pediatrics within the Faculty of Medicine. His research is highly focused on genetic metabolic disorders, particularly lysosomal storage diseases such as Pompe disease and mucopolysaccharidosis. His primary research interests include gene therapy , enzyme replacement therapy , skeletal muscle biology , and 3D tissue-engineered muscle models for studying muscular dystrophies. He actively investigates disease mechanisms and therapeutic interventions for conditions like facioscapulohumeral muscular dystrophy and Pompe disease, with an emphasis on translational and clinical applications. The recent publications highlight a strong trend in developing and utilizing advanced 3D-tissue-engineered skeletal muscle systems for disease modeling, gene knockdown strategies, and evaluating novel gene therapies. His work frequently involves collaboration with international consortia such as the European Pompe Consortium, underscoring his leadership in clinical guideline development and therapeutic innovation. Enzyme Replacement Therapy Glycogen Storage Disease Type II (Pompe Disease) Mucopolysaccharidosis Gene Therapy Skeletal Muscle Modeling Newborn Screening Pim Pijnappel supervises research and has contributed to 59 research outputs, including articles, reviews, and book chapters. His collaborative network spans multiple institutions and countries, reflecting extensive engagement in both basic and clinical research. He is involved in advising and mentoring through supervised research work, though specific student names are not listed. His lab focuses on developing and applying tissue-engineered models to understand and treat rare genetic muscle disorders, with future work likely to expand into in vivo validation and clinical translation of gene therapies.

• Gene Therapy
• Enzyme Replacement Therapy
• Skeletal Muscle Biology
• +۷ مورد دیگر