Children and adults with hereditary white matter diseases are welcome in our expertise center. We offer diagnostics and patient care, if necessary in collaboration with other departments of Amsterdam UMC.
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Adeline Vanderver, MD, is an attending physician in the Division of Neurology, Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia.
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The Neurology Clinic’s mission is to provide the best neurological care possible. Our team of doctor and staff make every effort to exceed the expectations of patients and their families. We provide advanced diagnostic procedures that include Magnetic Resonance Imaging (MRI), Cat Scan (CT), Ultrasound, Electroencephalography (EEG), Electromyography (EMG/NCV), and Infusion Therapy.
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My research is about rare congenital brain diseases, hereditary white matter diseases. My main focus area is hypomyelination, a heterogeneous disease group characterized by a lack of myelin. Here we are unraveling new disease genes and disease mechanisms. Another area of interest is metachromatic leukodystrophy, a white matter disease for which treatment, hematopoietic stem cell transplantation, is available at an early stage.
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My research focuses on neurodegenerative disorders in children with a special focus on leukodystrophies, a group of inherited white matter diseases of the brain. My research team is investigating the clinical and imaging characteristics of these diseases along with their genetic causes.
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Our laboratory utilizes different molecular and cell biology techniques to study cell lineages and the regulation of myelin formation. These techniques include in situ hybridization, tissue culture, immunocytochemistry, cell transfections, myelin protein synthesis and targeting using enhanced green fluorescent protein as a marker protein, construction of point mutations in myelin protein genes, etc.
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In the division of Cell and Gene Therapy, within the Center for Translational Neuromedicine (CTN), our goal is to understand the regulatory control of stem and progenitor cells of the human CNS, and to utilize that knowledge to design new approaches for treating neurological diseases, primarily using cell and gene therapy.
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The Tesar Laboratory sits at the interface between stem cell biology and developmental neuroscience. They use pluripotent stem cells to model neurological development and disease with a specific focus on glial cells in the central nervous system – oligodendrocytes and astrocytes.
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Dr. Cambi’s laboratory is focused upon oligodendrocyte cell biology, regulation of alternative splicing of genes expressed by differentiating oligodendrocytes and the molecular determinants that regulate oligodendrocyte function in maintaining myelin and axonal integrity during development, in inherited myelin disorders and in injury models.
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Dr. Cambi’s laboratory is focused upon oligodendrocyte cell biology, regulation of alternative splicing of genes expressed by differentiating oligodendrocytes and the molecular determinants that regulate oligodendrocyte function in maintaining myelin and axonal integrity during development, in inherited myelin disorders and in injury models.
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Our research is aimed at repairing the central nervous system in people with myelin disorders. While our major target is multiple sclerosis (MS), we also are devising strategies for myelin repair in the inherited childhood disorders, particularly Krabbe’s disease and Pelizaeus Merzbacher disease.
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