PROJECT
INVESTIGATORS
Given the size of the Global Leukodystrophy Initiative (GLIA) and its collaborative stakeholders, covering a group of related yet distinct conditions, a strength of our application is that we have harnessed the commitment of multiple investigators to ensure that the GLIA-CTN can operate seamlessly at a national level. Each of these investigators brings extensive and complementary experience in different areas of expertise. They have each been tasked with managing various aspects of the program, and they will work closely with each other - as well as our external stakeholders - to ensure the success of the GLIA-CTN.
Laura A. Adang, Md, PhD
Children’s Hospital of Philadelphia
Dr. Laura Adang is an Assistant Professor of Child Neurology at the Children's Hospital of Philadelphia specializing in the care of children with leukodystrophies. Dr. Adang is a magna cum laude graduate of the University of Georgia's Foundation Fellowship scholarship program and a graduate of the Medical Scientist Training Program at the University of Virginia, where she received both her M.D. and Ph.D. Her graduate work in the laboratory of Dean H. Kedes M.D. Ph.D. characterized the immune evasion mechanisms of herpesvirus infections. Her work has been published in Cell, Journal of Clinical Investigations, and Journal of Virology, among others.
After graduating from the University of Virginia, she completed her pediatrics and child neurology residencies at the Children's Hospital of Philadelphia and the University of Pennsylvania. During her training, her research explored the seasonal trends of NMDA receptor encephalitis in children. She has completed additional fellowship training in multiple sclerosis and leukodystrophies as well. Her primary clinical focus is the care of children with white matter disorders and neuroinflammatory conditions. She is an active member of the Child Neurology Society.
Dr. Adang will serve as a co-investigator on Project 4.
Amy J. Bastian, PhD, PT
Kennedy krieger institute
Dr. Amy Bastian is the chief science officer at Kennedy Krieger Institute, a role in which she identifies and promotes new directions for breakthrough research into the developing brain, spinal cord, and musculoskeletal system. She is also director of the Motion Analysis Laboratory that studies the neural control of human movement. Dr. Bastian is a professor of neuroscience and neurology at the Johns Hopkins University School of Medicine.
After completing her undergraduate degree in physical therapy at the University of Oklahoma, Dr. Bastian completed her doctoral degree in movement science at Washington University in 1995, and a post-doctoral fellowship in neuroscience at Washington University under Dr. W.T. Thach. Dr. Bastian came to Kennedy Krieger Institute in Summer 2001. Prior to that, she was an assistant professor in physical therapy in the Department of Anatomy and Neurobiology at the Washington University School of Medicine in St. Louis.
Dr. Bastian’s research uses computerized movement tracking techniques, non-invasive brain stimulation, novel devices and robotics to control walking and reaching movements. She studies how people with and without neurological damage control movement and learn new patterns. Some of her recent accomplishments include a series of papers on learning new walking patterns using a novel ‘split-belt’ treadmill published in the Journal of Neuroscience, Brain, and Nature Neuroscience. She has coauthored over 100 scientific papers and numerous book chapters and served as chair of the Musculoskeletal Rehabilitation Study Section at the National Institutes of Health (NIH).
Dr. Bastian will serve as a co-investigator for Project 2.
Joshua L. Bonkowsky, MD, PhD
University of Utah Health
Dr. Josh Bonkowsky serves as the Division Chief of Pediatric Neurology at the University of Utah. Dr. Boknowksy is also an associate professor of Pediatric Neurology at the University of Utah.
He completed his undergraduate training at Harvard University. Hobtained his MD and PhD degrees at the University of California, San Diego, and did his Pediatrics and Neurology/Pediatric Neurology training at the University of Utah and Boston Children's Hospital.
Dr. Bonkowsky is engaged in both clinical and basic science studies. His clinical studies are focused on understanding the clinical features of leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating the genetics of leukodystrophies, using both local (Utah Population Database) and national databases, to understand the genetic and medical impacts of these disorders.
Dr. Bonkowsky will serve both as the GLIA-CTN Clinical Liaison and as a co-investigator for Project 1.
Lisa T. Emrick, MD
Texas Children's Hospital
Dr. Lisa Emrick is the Medical Director of Neurogenetics at Texas Children’s Hospital where she routinely evaluats patients with known and unknown leukodystrophies.
She has a strong research interest in the treatment of rare neurogenetic disorders, and has dual training in Neurodevelopmental Disabilities and Clinical Genetics. Dr. Emrick is board certified in Pediatrics, Neurology with a special certification in Child Neurology, Clinical Genetics, and Neurodevelopmental Disabilities. She has completed three clinical studies on individuals with MELAS and Angelman syndrome. She is also principal investigator for a future multi-site gene therapy trial for San Fillippo Type B and is a co-investiagator in the Undiagnosed Diseases Network. Finally, Dr. Emrick is on the Texas Newborn Screening Committee for X-Linked Adrenoleukodystrophy (X-ALD).
Dr. Emrick will serve as a co-investigator on Project 1.
Florian Eichler, MD
Massachusetts General Hospital
Florian Eichler, MD, is the Director of the Leukodystrophy Service and the Center for Rare Neurological Diseases at Massachusetts General Hospital (MGH), as well as an Associate Professor of Neurology at and Harvard Medical School. His laboratory explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration.
Dr. Eichler obtained his medical degree from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in Pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins he underwent residency training in Child Neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.
Dr. Eichler is the principal investigator of several NIH- funded studies on neurogenetic disorders, including a natural history study of Canavan Disease (NCT02851563), ALD (NCT03278899) as well as a gene therapy trial of adrenoleukodystrophy. He also serves as chair of the Rare Disease Think Tank at MGH and is founder of the international consortium ALD Connect, a patient powered research network. In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, he will co-direct Project 1 and Project 2.
S. Ali fatemi, MD, MBA
Kennedy Krieger Institute
S. Ali Fatemi, MD, is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Division of Neurogenetics and the Moser Center for Leukodystrophies, and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute. Dr. Fatemi is also an associate professor of neurology and pediatrics at Johns Hopkins University.
Dr. Fatemi graduated from the Medical University of Vienna in Austria. He completed a postdoctoral fellowship under the mentorship of Hugo W. Moser, during which he developed neuroimaging studies for leukodystrophies. He received clinical training at SUNY Downstate, and Massachusetts General Hospital and returned to Kennedy Krieger Institute in 2008 as a faculty member. In 2009, He received an NINDS K08 career development award to study developmental myelination and glial progenitor cell therapy.
His current research activities encompass both basic and clinical research, and he has served as site PI for several clinical trials. In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, he will co-direct Project 2 and serve as a co-investigator on Project 1.
Jamie L. Fraser, MD, PhD
Children’s national medical center
In her role as the Director of the Myelin Disorders Program at Children’s National, Dr. Fraser diagnoses and coordinates the interdisciplinary management of a cohort of patients (~250) with rare disorders of white matter development, turnover, and degeneration. Most of these rare disorders of brain degeneration also lack adequate therapeutic strategies to protect the brain, and therefore, most patients die before they reach adulthood. Development of novel neurotherapeutics for these disorders remains imperative, and bench-to-bedside studies expedite future therapies for these patients. To advance these goals, I am the principal investigator for a comprehensive natural history study of classical and genetic leukodystrophies at Children’s National, and we collaborate with the GLIA consortium to maximize data collection and analysis of these ultrarare disorders. We also maintain direct collaboration with Dr. Adeline Vanderver on several disease-specific studies.
Dr. Fraser’s clinical and research interests focus on elucidating the pathophysiological mechanisms underlying neurologically-manifesting inborn errors of metabolism (nIEMs) and development of new treatment strategiesto prevent the neuropathology caused by these disorders. These patients develop movement disorders,spastic quadraparesis, seizures, and in some disorders, progress to coma, and even death. My research andclinical practice seek to develop sufficient biomarkers to prognosticate outcomes and identify pathways fortherapeutic intervention as well as provide a framework of care focused on the whole patient-family unit to bestprepare families for living with rare, neurodegenerative diseases. My research interests focus on themechanisms of brain injury and associated inflammation, neuroplasticity, and endogenous repair within thedeveloping brain coupled with functional neurobehavioral studies in affected animal models. I have developed models of nIEM-related brain injury by identifying a particularly vulnerable developmental period to generate areliable and reproducible model of neurological injury in our mice and established the neurobehavioral phenotype in optimally managed mice without acute brain injury. I have also developed a pluri-potent stem cell model to recapitulate cerebral and midbrain development.
Dr. Fraser will serve as a co-investigator for Project 1.
Stephanie keller, md
Emory University
Dr. Stephanie Keller is child neurologist at Emory University who specializes in caring for children with metabolic and geneticdiseases, and in particular leukodystrophies. She directs af a multidisciplinary clinic for children with leukodystrophies and leukoencephalopathies, which currently follows approximately 50 children with a number of these disorders. Dr. Keller is a longstanding member of the Global Leukodytophy Initiative (GLIA) and our program is listed as an associated clinical care site. She regularly attend educational conferences regarding the latest updates and research in leukodystrophy.
Her clinical research experience includes recruiting patients for clinical trials, obtaining consent for research, and providing clinical information andbiological samples for research. She has also been an advisor for an NIH-funded Newborn Screening pilot study for X-Linked Adrenoleukodystrophy (X-ALD) in Georgia.
Dr. Keller will serve as a co-investigator on Project 1.
Richard F. Lewis, MD
Massachusetts general hospital
Dr. Richard Lewis is a board-certified neurologist who specializes in vestibular and balance disorders as well as otoneurology.
Considered one of the world’s leading authorities in otoneurology, Dr. Lewis has been an invited speaker at national and international meetings and has authored numerous peer-reviewed publications in the field. He is the editor of Vestibular Function in Health and Disease, is the associate editor for the Journal for Research in Otolaryngology, is on the editorial board of Otology & Neurotology and The Journal of Neurophysiology, and is an ad hoc reviewer for several other specialty journals. He serves as the Director of the Vestibular section of the Speech and Hearing Bioscience and Technology Program at Mass. Eye and Ear/Harvard Medical School.
Dr. Lewis’ research focuses on vestibular physiology and pathophysiology, specifically the processing of vestibular information by the brain, vestibular prosthesis, vestibular migraine, and vestibular compensation. His clinical work focuses on patients with vestibular disorders and clinical vestibular testing.
Dr. Lewis will serve as a co-investigator on Project 2.
Eric J. Mallack, M.D.
Weill Cornell Medical Center
Eric Mallack, MD, MBE is an Assistant Professor of Pediatrics and Neurology at Weill Cornell Medical College, Assistant Attending at NewYork-Presbyterian Hospital, and Assistant Attending Neurologist at Memorial Sloan Kettering Cancer Center. He is the Director of the Leukodystrophy Center at Weill Cornell Medicine, and Neurologist in the WCM-MSKCC Metabolic Cell and Gene Therapy Program.
Dr. Mallack's translational research program allies with the Newborn Screening Program and Patient/Parent Advocacy Groups to identify presymptomatic patients with X-Linked Adrenoleukodystrophy. He is investigating the ability of multiple advanced neuroimaging techniques, including diffusion tensor imaging, to identify patients appropriate for stem cell transplant prior to symptom onset. Dr. Mallack is a faculty neurologist in the Center for Neurogenetics which focuses on understanding the genetic mechanisms responsible for abnormal brain development. He is also investigating genotype-phenotype correlations in autism under the Weill Cornell Autism Research Project (WCARP).
Dr. Mallack is a recipient of the first GLIA-CTN Career Development Pilot Project Award. His project focuses on prospective natural history data collection for males with X-linked Adrenoleukodystrophy (X-ALD) identified by newborn screening.
Albee Messing, VMD, PhD
University of Wisconsin–Madison
Research in Dr. Messing’s laboratory is directed at understanding developmental and pathologic aspects of glial cell biology in the nervous system of the mouse, with a particular focus on astrocytes and their major intermediate filament protein, GFAP. His main strategies involve genetic manipulation of glial gene expression using transgenic techniques, and gene targeting in embryonic stem cells, to generate mutant strains of mice. Current projects address a variety of topics such as regulation of gene expression, the role of GFAP mutations and accumulation in the pathogenesis of Alexander disease. A major effort is devoted to devising novel therapeutic strategies for treatment of this disorder, and identifying biomarkers to permit monitoring severity or progression of the disease.
Dr. Messing will serve as a co-investigator on Project 3.
Christopher Stephen, MBChB
Massachussets General Hospital
Dr. Stephen is board certified in neurology and is an attending neurologist at the Massachusetts General Hospital and Brigham & Women’s Hospital and an Instructor in Neurology at Harvard Medical School. He obtained his medical degree at the University of Aberdeen in Scotland, UK and completed internal medicine residency training in the UK at the University of Edinburgh and University of Nottingham programs. After attaining his Membership of the Royal College of Physicians in 2009, he pursued further training as a specialist registrar in neurology at the University of Cambridge and was an Honorary Specialist Registrar at the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. He completed his internship and Neurology residency at the Beth-Israel Deaconess Medical Center/Children’s Hospital Harvard neurology program followed by a Fellowship in Movement Disorders and Ataxia at the combined Partners Massachusetts General Hospital and Brigham and Women's Hospital program with additional pediatric experience at Boston Children’s Hospital.
In the Division of Movement Disorders, Dr. Stephen treats patients with Parkinson's disease, tremor and other movement disorders, with a special interest in dystonia and ataxia. He has also been involved with the Brigham & Women’s Hospital Performing Arts Clinic since 2010, where he has been treating musicians since 2014. His research interests lie in the overlap between dystonia and ataxia and especially the spinocerebellar ataxias. He is also conducting research on neurological problems in musicians and is part of an international research collaborative on musician’s dystonia. He is a member of the clinical and research team at the Massachusetts General Hospital Collaborative Center for X-linked Dystonia Parkinsonism and a member of the MGH Center for Rare Neurological Diseases.
Dr. Stephen will serve as a co-investigator on Project 2.
Asako Takanohashi, PhD, DMV
Children’s Hospital of Philadelphia
Dr. Asako Takanohashi is a Laboratory Director in the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia. She previously worked in the National Institute of Neurological Disorders and Stroke (NINDS), an arm of the National Institutes of Health (NIH), and holds a PhD in Veterinary Medicine from the Tokyo University as well as a DVM from Nippon Veterinary and Life Science University in Tokyo, Japan.
Dr. Takanohashi will oversee the program’s biomarker studies, including sample processing, testing, and quality control and analysis of data. She will also contribute to data analysis and manuscript preparation.
Specifically, Dr. Takanohashi will serve as a co-investigator for Project 3 and Project 4.
Adeline L. Vanderver, MD
Children’s hospital of Philadelphia
Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) and the Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics. She is also Program Director of the Leukodystrophy Center of Excellence at CHOP.
Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children's National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.
Dr. Vanderver’s has helped clarify the molecular etiology over a dozen leukodystrophies and has contributed more than 100 peer reviewed manuscripts to the literature on leukodystrophies over the past decade. She has contributed to the development of new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families.
In addition to providing scientific and administrative direction to the Global Leukodystrophy Initiative Clinical Trials Network, she will direct Project 4 and will serve as a co-investigator on Project 1 and Project 3.
Keith p. van haren, MD
stanford children’s health
Dr. Van Haren is a clinically trained child neurologist and scientifically trained neuroimmunologist who has been dedicated to the study of myelin disorders for almost two decades. After completing his medical training in 2010 and post-doc in 2013, Dr. Van Haren helped establish the both ALD Connect and the Global Leukodystrophy Initiative. In 2014, Dr. Van Haren led the effort to establish the first formal care guidelines for inherited myelin disorders. He is currently engaged in an early stage clinical study of vitamin D in X-linked adrenoleukodystrophy.
Dr. Van Haren currently oversees a clinical and translational neuroscience program at Stanford University that is dedicated to improving the standard of care for children and adults affected by myelin disorders. Clinically, his team serves as a regional resource for high-quality, multidisciplinary diagnostic and therapeutic care for patients and families. He is working with his colleagues in the leukodystrophy community to enable the design, implementation, and access to more early stage (i.e. Phase I/II) clinical trials for leukodystrophy patients.
Scientifically, Dr. Van Haren’s team studies the metabolic and immunologic roles of myeloid cells in single-gene disorders (like leukodystrophies) that affect the brain. Dr. Van Haren is currently enrolling patients in a single-arm, dose-escalation study of high dose vitamin D in boys with X-linked adrenoleukodystrophy. The study requires at least three visits over a 12 month period; it will track clinical, biomarker, and mechanistic outcomes.
Dr. Van Haren will serve as a co-investigator for Project 1.
Amy T. Waldman, MD, MSCE
Children’s hospital of Philadelphia
Dr. Waldman is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania. Dr. Waldman received her Medical Doctorate from Jefferson Medical College (Thomas Jefferson University). She completed her pediatrics residency at The Children’s Hospital of Philadelphia (CHOP) and child neurology residency at both CHOP and the Hospital of the University of Pennsylvania. A recipient of the National Multiple Sclerosis Society-American Academy of Neurology Foundation (now the American Brain Foundation) Clinician Scientist Development Award, Dr. Waldman completed a fellowship in pediatric and adult MS at CHOP and the Hospital of the University of Pennsylvania. During her fellowship, she obtained a Master of Science in Clinical Epidemiology degree at Penn.
In 2005, she co-founded the Pediatric MS Center at CHOP, and in 2014, she co-founded the Leukodystrophy Center of Excellence at The Children’s Hospital of Philadelphia where she now serves as the Medical Director. Dr. Waldman’s primary research focuses on the development and interpretation of outcome measures for clinical trials in neuroinflammatory and neurodegenerative diseases. She has received funding from the NIH to study visual function and axonal loss through imaging in children with multiple sclerosis. Her work has also highlighted differences between pediatric and adult-onset MS. She is also a site principal investigator for collaborative research projects with other pediatric MS centers throughout the United States and Canada. Her research has been published in Neurology, Multiple Sclerosis and Related Disorders, Multiple Sclerosis International, Journal of the American Association for Pediatric Ophthalmology and Strabismus, Journal of Child Neurology and others. She has authored numerous book chapters on the clinical features, treatment, and prognosis of CNS demyelination.
Dr. Waldman’s K23 award, entitled Development of Visual and Neurologic Outcome Measures in Pediatric MS, provided the infrastructure and knowledge on clinical trial methodology for her current work in leukodystrophies. There is a lack of standardized metrics for use in neurodegenerative diseases and a critical need for expertise indeveloping such tools. A first-in-human clinical trial using antisense oligonucleotide in Alexander disease is imminent; however, there are no outcome measures that have been established for this disorder. Her position as Medical Director of the Leukodystrophy Center at CHOP has provided her with the opportunity to lead an international natural history study for Alexander disease.
Dr. Waldman will direct Project 3 and serve as a co-investigator for Project 1.