From boardrooms to benchtops, our members represent the full spectrum of stakeholders in the effort to diagnose and treat leukodystrophies.
Our Clinicians and Scientists
Laura A. Adang, MD, PhD
Laura A. Adang, MD, PhD, 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.
Laura J. Ball, PhD
Laura J. Ball, PhDis the Director of Hearing & Speech Research at Children’s National Medical Center in Washington DC. She completed her PhD at the University of Nebraska-Lincoln with a specialization in Augmentative and Alternative Communication (AAC) forcomplex communication disorders and motor speech impairments. She has over 35 years’ experience as a clinical speech-language pathologist. Her major research focus is with individuals with complex neuromotor speech disorders across the lifespan. Particular interests are in examining functional communication and participation, augmentative and alternative communication assessment and implementation, and neurological speech-language and swallowing impairments resulting from neuromuscular, neurogenetic, and white matter disease. Current research projects are examining advanced neural decoders for communication interfaces (i.e., brain-computer interface), functional communication for adolescents with Fragile X transitioning from school to vocational environments, augmentative communication assessment and intervention for children with anarthria, and improving patient-provider communication for individuals from minority populations with severe communication impairments.
Dr. Ball served on the Massachusetts General Hospital committee for Assistive Communication and Technology, and is currently active in the Global Leukodystrophy Initiative Standardization of Care Task Force. She has been a member of the Medicare Implementation Team, an Ad Hoc Committee for AAC Funding Advocacy, since 1999. At present, she is serving on the Institute of Medicine (IOM), Committee on the Use of Selected Assistive Devices in Eliminating or Reducing the Effects of Impairments, National Academies of Science, Health and Medicine Division, Board on Health of Select Populations.
Geneviève Bernard, MD, M.Sc., FRCPC
Dr. Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Brais, Pr. Guy A Rouleau and Dr. Sylvain Chouinard. She started her career as an independent investigator and pediatric neurologist in October 2011 at the Montreal Children’s Hospital of the McGill University Health Center (MUHC) and MUHC Research Institute. She is currently an Assistant Professor at McGill University, in the Department of Neurology and Neurosurgery (and Pediatrics) and a member of the Medical Genetics Department (and Pediatrics) of the MUHC.
Dr. Bernard and her team, together with her international collaborators, discovered the three genes responsible for 4H leukodystrophy and published, in collaboration with Dr. Nicole Wolf and numerous international collaborators, the largest clinical, radiological and genetic characterization study on this disorder. Dr. Bernard published numerous peer-reviewed manuscripts, including some in high impact factor journals (e.g. Am J Hum Genet, Arch Neurol, Mov Disord, Med Genet, Ann Neurol, Neurology, Orphanet J Rare Dis, and Nat Commun), book chapters/course notes and abstracts, and she has been an invited speaker in numerous national and international conferences.
Josh L. Bonkowsky, MD, PhD, FAAP
Dr. Josh Bonkowsky is a pediatric neurologist specializing in clinical care and research of children with leukodystrophies. He is an attending physician at Primary Children’s Hospital and the University of Utah Hospital, and is an associate professor of Pediatrics and of Neurology at the University of Utah School of Medicine. He is delighted to accept new referrals.
After graduating from Harvard College, he spent one year on a Fulbright Fellowship in Vienna, Austria. He received his MD and PhD degrees from the University of California, San Diego, and completed residency training at the University of Utah (pediatrics), Children’s Hospital of Boston and University of Utah (pediatric neurology). As a physician-scientist, he studies genetic mechanisms of nervous system development and disease. His bibliography includes over 60 peer-reviewed articles.
Nancy Braverman, MD, MS
Nancy Braverman, MD, MS is an Associate Professor at McGill University, the Montreal Children’s Hospital and the Research Institute of the McGill University Health center. She directs the Peroxisome Disease Center in which children and adults are referred, diagnosed and managed using an interdisciplinary team approach to provide all services required.
Dr. Braverman is has been studying peroxisome disorders for nearly two decades in both the clinic and laboratory. She has been involved in identifying the causative human genes, studying functions of the encoded proteins, engineering novel mouse models to study disease pathophysiology and to test potential therapies. She has spearheaded a natural history study for peroxisome biogenesis and related disorders to answer critical questions on disease course and is on the medical advisory board for the Global Foundation for Peroxisome Disorders. She completed her Masters degree in genetic counseling from Sarah Lawrence College, her pediatrics residency at Yale New Haven Hospital and Genetics Fellowship in clinical and biochemical genetics at the Johns Hopkins Medical Center. She joined McGill in 2008.
Barbara K. Burton, MD
Dr. Barbara K. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and Clinical Practice Director in the Division of Genetics, Birth Defects and Metabolism at the Ann and Robert H. Lurie Children’s Hospital of Chicago. Dr. Burton is a former President of the Society for Inherited Metabolic Disorders (SIMD) and a former Chairman of the Genetic and Metabolic Advisory Committee of the Illinois Department of Public Health; she currently serves as Chairman of the Lysosomal Storage Disorders subcommittee. She represented the SIMD for four years on the Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. She is also a member of the Medical Advisory Board of several patient advocacy organizations, including Hunter’s Hope, and is a member of numerous North American societies including the American Society of Human Genetics and the American College of Medical Genetics.
Her major clinical and research interests are in the area of inborn errors of metabolism and in newborn screening for metabolic disorders. She has been an investigator on numerous clinical trials of new therapeutics for inherited metabolic disorders, including sapropterin and pegvaliase for PKU, elosulfase alfa for Morquio A Syndrome, idursulfase-intrathecal for MPSII with CNS involvement disease, and sebelipase alfa for lysosomal acid lipase deficiency. She has contributed over 200 articles and chapters to the medical literature, many of them focusing on the diagnosis and treatment of inborn errors of metabolism. In addition, she is the co-editor of a textbook entitled “Congenital Malformations."
Florian Eichler, MD
For the past 10 years, Dr. Florian Eichler, MD has been working to bring trials to patients with X-linked adrenoleukodystrophy (ALD). Since his training in Neurogenetics at Johns Hopkins, it has been his goal to advance care and treatment for this devastating disorder. As a Neurogenetics Research Fellow, he investigated biomarkers, neuroimaging, and pathophysiology of this disorder. After becoming Director of the Leukodystrophy Service at Massachusetts General Hospital (MGH), he was able to open the first gene therapy trial in ALD in collaboration with Dr. David Williams at Boston Children’s Hospital in 2013.
He is the principal investigator of several NIH-funded studies on neurogenetic disorders and also serves as chair of the international consortium ALD Connect, a patient powered research network that was awarded a contract from PCORI and is dedicated to eradicating adrenoleukodystrophy. They have developed a multicenter infrastructure that harmonizes data collection in order to conduct longitudinal studies and trials in ALD. Dr. Eichler's overall goal is to facilitate treatments for rare neurological disorders. In that capacity, he serves as chair of the Think Tank on Rare Diseases.
Richard Leventer, PhD, FRACP
Dr. Leventer is a consultant pediatric neurologist at the Royal Children’s Hospital (RCH) in Melbourne and Group Leader of Neuroscience Research within the Clinical Sciences theme of the Murdoch Children’s Research Institute (MCRI). In addition, he holds an honorary appointment at the Florey Institutes of Neurosciences and Mental Health. He is an Associate Professor in the University of Melbourne Department of Paediatrics. Dr. Leventer was awarded his PhD on the topic of cortical malformations in 2007 which included research commenced whilst doing a Fellowship in the Brain Malformation Program at the University of Chicago under the supervision of Prof. William Dobyns and Prof. David Ledbetter. He was president of the Australia and New Zealand Child Neurology Society from 2002 - 2007. He has authored over 85 peer-reviewed publications and six book chapters.
Dr. Leventer is Director of the RCH/MCRI Brain Malformation Program and Clinic, which is the referral center for children with brain malformations from Australia and New Zealand. He is responsible for a brain malformation database of over 1350 patients, which includes a repository of DNA and brain tissue samples stored within the MCRI. He is a Chief Investigator on the MCRI Accelerated Gene Identification Program within the MCRI Bruce Lefroy Centre. Dr. Leventer’s opinion is widely sought for the review of clinical cases and the interpretation of brain MRI scans of children with brain malformations and other neurogenetic conditions. He is a valued collaborative researcher with colleagues throughout Australia, New Zealand, the USA and Europe. Dr. Leventer is the Australian representative on the international consortium studying white matter disorders, known as the Global Leukodystrophy Initiative. He is a Chief Investigator on two current NHMRC Project Grants on the topics of paediatric leukodsytrophies (APP1068278) and agenesis of the corpus callosum (APP1059666). He is currently supervising two PhD students in the field of neurogenetics.
Albee Messing, VMD, PhD
Dr. Albee Messing is Professor of Neuropathology and the Director of the Waisman Center at the University of Wisconsin-Madison, where he has been on faculty in the School of Veterinary Medicine since 1985. He received his B.S from Yale, and his veterinary medical and doctoral degrees from the University of Pennsylvania.
Dr. Messing’s research examines the genetics, cell biology, pathophysiology, and experimental therapeutics of Alexander disease, a leukodystrophy resulting from mutations in GFAP, the major intermediate filament protein of astrocytes. Dr. Messing has been the recipient of both the Weil and Moore Awards from the American Association of Neuropathologists.
Sumit Parikh, MD
Dr. Sumit Parikh is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program, Director of the Cleveland Clinic Multidisciplinary CDKL5 Syndrome Clinic, Medical Director of the Cleveland Clinic Autism Spectrum Evaluation Team, and a Co-Director of the Cyclic Vomiting Syndrome Program. His clinic serves as one of several national sites for the Global Leukodystrophy Initiative's White Matter Disease clinics.
His clinical and research interests include the diagnosis and treatment of patients with mitochondrial cytopathies, select inborn errors of metabolism, cognitive and developmental regression, autism, leukodystrophies, epilepsy and developmental delays. He sees pediatric and select adult patients.
Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh has had the privilege of having Bruce Cohen, Charles Hoppel and Marvin Natowicz serve as his teachers during that time.
He joined the Cleveland Clinic in 2004. Since 2007, Dr. Parikh has been selected as one of "America's Best Doctors."
Amy Pizzino, MS, CGC
Amy Pizzino has been the genetic counselor for the White Matter Disease Program at Children's National Health System since January 2013. Her goals are to help families better understand genetic diagnoses and how to manage these complex conditions.
Amy's research interests include helping to find genetic diagnoses for families who struggle to understand the cause of their child’s condition and learning how families feel throughout the steps to a diagnosis.
Deborah L. Renaud, MD
Dr. Renaud is a neurometabolic specialist focusing on neurologic manifestations of inherited metabolic disorders, with a particular interest in inherited leukoencephalopathies. She is the Director of the Neurometabolic Clinic and Leukodystrophy Program at the Mayo Clinic in Rochester, MN, which provide comprehensive evaluation and care for adults and children with neurometabolic disorders and inherited leukoencephalopahy. She also co-directs the Mayo Clinic Peroxisomal Disorders Program, a multidisciplinary program for patients with peroxisomal disorders with special emphasis on boys with X-linked adrenoleukodystrophy (X-ALD) as well as men and women with adrenomyeloneuropathy (AMN).
Dr. Renaud is a Fellow of the Royal College of Physicians and Surgeons of Canada in both Pediatrics and Neurology. She is a Diplomat of the American Board of Pediatrics and is certified in Neurology with Special Qualifications in Child Neurology by the American Board of Psychiatry and Neurology. More recently, she became certified in Medical Biochemical Genetics by the American Board of Medical Genetics and Genomics. Dr. Renaud is a graduate of the University of Western Ontario where she studied Biology and received her M.D. degree. She completed residency training in Pediatrics and Pediatric Neurology at the Children’s Hospital of Eastern Ontario in Ottawa and Hospital for Sick Children in Toronto. As a Clinical and Research Fellow in Genetic Metabolic Disorders at Hospital for Sick Children in Toronto, she completed a research fellowship in the Neurometabolics Laboratory.
Raphael Schiffmann, MD, MHSc
Raphael Schiffmann, M.D., M.H.Sc. is the Director of the Institute of Metabolic Disease and Clinical Professor at the Texas A&M University Medical School. He holds a Master’s degree of Health Sciences in Clinical Research from Duke University in North Carolina, and has completed his medical degree at the University of Liege in Belgium and Pediatrics in Jerusalem, Israel. His research primarily focuses on neurometabolic diseases and in particular lysosomal storage diseases, the leukodystrophies and undiagnosed neurological disorders. Prior to moving to Dallas, Texas, he was a lead investigator for 17 years at the National Institute of Neurological Disorders and Stroke, Bethesda, Maryland where his work on the leukodystrophies included identification of novel leukodystrophy syndromes such as Childhood Ataxia with Central Nervous System Hypomyelination (CACH; vanishing white matter disease; eIF2B related disease) and 4H Syndrome.
He is the Principal Investigator of the leukodystrophy research protocol: "The Etiology, Pathogenesis, and Natural History of the Leukodystrophies” at the Baylor Research Institute, Dallas, Texas. The protocol serves for the diagnosis and research of children and adults with white matter disorders. He authored 222 peer-reviewed publications – 39of them on the leukodystrophies.
Davide Tonduti, MD
Dr. Tonduti's main research interests are in the areas of leukodystrophies and genetic leukoencephalopathies, inherited metabolic diseases, and pediatric movement disorders.
Over the course of his career, he has developedexpertise in the field of heritable white matter disorders and inborn errors of metabolism. He completed his residency in pediatric neurology at the Child Neurology and Psychiatry Department of Mondino Institute of Pavia, Italy, which is also the headquarters of the International Aicardi-Goutières Syndrome Association (Dr. Orcesi). In 2011, he shadowed physicians in the White Matter Disorders Clinic at Children’s National Medical Center in Washington D.C. (Dr. Vanderver) and in 2012-2013 he worked at the French Reference Center for Inherited Leukodystrophy at the Department of Neurology and Hereditary Metabolic Disorders (Hôpital Robert Debré, Paris, Prof. Boespflug-Tanguy). In 2013 he obtained the Inter-University Degree in Inborn Error of Metabolism at the Faculty of Medicine of Paris Descartes University, France. Between 2012 and 2014 he attended the PhD fellowship program on genetic research in leukodystrophies and genetic leukoencephalopathies on co-direction between University of Pavia, Italy - Paris Diderot University, France.
Since 2013 he has been working as child neurologist at Department of Child Neurology, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta of Milano, Italy, where he is primarily involved in clinical care and in research in the fields of leukodystrophies, genetic leukoencephalopathies, hereditary disorders with cerebral calcification, pediatric movement disorders.
Adeline Vanderver, MD
Dr. Adeline Vanderver is the Director of the Myelin Disorders Program at Children’s National Health System. Dr. Vanderver is an international leader in the study of leukodystrophies, conditions that affect about one in 7,000 children.
Dr. Vanderver has been interested in solving the mysteries of inherited myelin disorders since she was a medical student. She was touched by families that had been trying for years to understand the medical condition their children were experiencing before receiving a diagnosis. Dr. Vanderver also is deeply involved in searching for genetic pathways that might explain how these conditions occur. Just as important, she says, is building community support for patients and their families.
Dr. Vanderver is an Associate Professor in the Departments of Neurology and Pediatrics, and Integrative Systems Biology at George Washington University Medical Center. She also works with the National Human Genome Research Institute at the National Institutes of Health.
Keith Van Haren, MD
Dr. Van Haren is a clinically trained child neurologist and scientifically trained neuroimmunologist who has been dedicated to the study of myelin disorders for over a decade. After completing his medical training in 2010 and post-doc in 2013, Dr Van Haren helped establish the first US-based consortia for inherited myelin disorders (ALD Connect and GLIA). 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.
Amy T. Waldman, MD, MSCE
Dr. Waldman is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania (Penn). 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. 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. The 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.
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. She is currently extending her expertise in clinical outcome measures to the leukodystrophies, with the goal of assisting in clinical trial design and interpretation for these disorders. She is leading a natural history study on Alexander disease, incluidng collecting data on performance-based outcome measures in affected individuals. As a member of GLIA, she is an active participant on their natural history and biorepository task forces. She is the co-director of the neuroepidemiology course at the Center for Clinical Epidemiology and Biostatistics at Penn and a faculty mentor for multiple clinical and research programs at CHOP and Penn. She is the treasurer of the Child Neurology Foundation, and a scientific advisor for The Calliope Joy Foundation. She is also a member of the International Pediatric Multiple Sclerosis Study Group (IPMSSG), International MS Visual System Consortium (IMSVISUAL), American Academy of Neurology, Child Neurology Society, and Clinical Advisory Committee for the National Multiple Sclerosis Society’s Greater Delaware Valley Chapter.
Nicole I. Wolf, MD, PhD
Between 1991 and 1998, Nicole Wolf studied medicine at the Ruprecht-Karl University Heidelberg, Germany, with a scholarship of the prestigious German National Scholarship Foundation, and at Queen’s University Belfast. She received her doctoral degree in 1998 for experimental work on proliferation control of chromaffin cells under the supervision of Dr. K. Unsicker, Department of Anatomy and Cell Biology. She specialized in paediatrics and child neurology at the University Children’s Hospital Heidelberg, in the department of Dr. D. Rating, and spent her last year as a fellow in child neurology at the Kinderspital Zürich, with Dr. E. Boltshauser.
She started to work on leukodystrophies in 2000 and moved in 2008 to the Center for Childhood White Matter disorders, founded in 2000 by Dr. M.S. van der Knaap, where she is PI for hypomyelination and metachromatic leukodystrophy. She described several new white matter disorders, among them 4H syndrome, a frequent cause of hypomyelination and one of her main fields of interest, for several years now in close collaboration with Dr. Bernard. She enjoys the stimulating atmosphere at the Center in Amsterdam and, above all, her work with patients and families.
Dr. Wolf is member of the editorial board of Neurology, communicating editor for the Journal of Inherited Metabolic Disease and editor of Neuropediatrics. She also serves as member of several scientific advisory committees.
Ernst Wolvetang, PhD
Professor Wolvetang obtained his PhD from the University of Amsterdam. After investigating the role of chromosome 21 transcription factors in Down syndrome during his post-doctoral studies he joined the laboratory of Prof. Martin Pera to help pioneer human embryonic stem cell research. In 2009 He took up a group leader position at the Australian Institute for Bioengineering and Nanotechnology at the University of Queensland to interface with emerging microfluidic, nano- and “smart” surface-technologies at the Institute. His laboratory employs iPSC as in vitro disease models and uses CRISPR genome editing tools to interrogate the underlying gene regulatory networks and epigenetic bases of in particular complex neurological diseases. He leads “Cell reprogramming Australia”, was awarded the 2014 LSQ regenerative medicine prize and is a principal investigator in the ARC Centre of Excellence “Stem Cells Australia”.
The Wolvetang laboratory is currently focused on modelling tRNA synthetase deficiencies and other poorly understood childhood leukoencephalopathies. Our strategy involves generation of induced pluripotent stem cells from patients, correcting or introducing patient mutations with CRISPR, differentiating these into neuronal cell types that inform on pathogenic mechanisms in 2D and 3D (organoid) culture formats, and then subject such brain cell types to deep transcriptomic and proteomic analyses. Using this information and the patient derived cell types we can then next test precision medicine therapeutics. We are very interested in working with clinicians and patient advocacy groups to thus close the circle from bedside to bench and back again.
Lawrence Wrabetz, MD
Dr. Lawrence Wrabetz currently serves as the Distinguished Professor of Neurology and Biochemistry, as well as the Director of the Hunter James Kelly Research Institute at the University of Buffalo School of Medicine. He graduated in Medicine from the Pritzker School of Medicine, University of Chicago, in 1984, and was specialized and board certified in Neurology and trained in Neuroscience at the University of Pennsylvania from 1984 to 1991. He is Associate Editor of the Journal of Neuroscience and of ASN Neuro, a peer-reviewed open access scientific journal covering neurochemistry.
The Wrabetz laboratory is interested in the molecular genetics of myelination, studied primarily in transgenic mice. Most recently they have focused on the pathogenesis of inherited demyelinating neuropathies or leukodystrophies. Studies in multiple authentic mouse models of Charcot Marie Tooth neuropathies, or Globoid or Metachromatic leukodystrophies have revealed the mechanisms of disease, potential avenues of therapy and the opportunity to test resulting medicines in preclinical trials.
Ayelet Zerem, MD
Dr. Ayelet Zerem is the Director of the White Matter Disorders Clinic and an attending physician in the pediatric neurology unit at Edith Wolfson Medical Center in Holon, Israel. The White Matter Disorders Clinic, which is a part of the Metabolic Neurogenetic Clinic, consists of a multidisciplinary team of pediatric neurologists, geneticists, physiotherapists, social workers, dieticians and nurses. Patients with known or suspected white matter disorders are referred from around the entire country.
Dr. Zerem obtained her medical degree at Hadassah Hebrew University in Jerusalem, and completed her residency and fellowships at Shaare Zedek Medical Center and Edith Wolfson Medical Center, respectively. She actively participates in research, where her main interest lies in the clinical, radiological and genetic characterization of white matter disorders. She has been published in numerous peer-reviewed journals, with papers related to leukodystrophies, neurometabolic and neurodegenerative diseases, and the genetics of epilepsy.
Stephen Damiani, OAM
Mission Massimo Foundation
Stephen is co-founder of the Mission Massimo Foundation, a non-profit organisation that promotes the prevention, diagnosis and treatment of childhood Leukodystrophies. He has no college-level biomedical training but has had to learn much about genetics and bioinformatics, since his son Massimo showed signs of having a rare genetically unclassified Leukodystrophy. Thanks to the close collaboration of many GLIA members, Massimo was the first ever patient to be diagnosed with a previously unknown disease to medicine (HBSL) using a familial trio of genomes to identify the genetic cause of his condition.
Stephen has a professional background in construction economics, information technology and telecommunications and, more recently, in his own life sciences businesses.
Don Hobson served as the PMD Foundation Board Chair from its founding in 1999 until retiring in January 2015. He is the husband of Dr. Grace Hobson, a recently retired Sr Research Scientist at the duPont Hospital for Children and member of the PMD Foundation Scientific Advisory Committee. Don received a BS in Mechanical Engineering from the University of Virginia and an MBA from the Darden Business School, also at the University of Virginia. He has over 40 years experience in the use of Computer and decision support Technology for business management. He began his career working for IBM, worked for for several corporations, and worked for ICI Americas through several corporate mergers, the last ten for Zeneca and AstraZeneca Pharmaceuticals.
He retired in 2000 and has volunteered in several capacities at the AI duPont Hospital for Children. He has 15 years experience with four non-profits in several capacities, from: Board Chair, board member, treasurer and volunteer. Don spends many hours as the “PMD Ambassador” at NIH/NINDS and International Genetics, Rare Disease and Research Conferences. He is a founding board member and Patient Advocate with the PMD Foundation, the World Leukodystrophy Alliance and the Global Leukodystrophy Initiative (GLIA).
United Leukodystrophy Foundation
Robert Rauner has been involved with the United Leukodystrophy Foundation (ULF) since 1994 and has been a board member since 2000. He has previously served as treasurer and is currently serving as the president of the ULF. He is a former UPS truck driver who decided to devote his retirement time to the future of the ULF.
Robert had a son, Kevin, who passed away from Adrenoleukodystrophy. His son Paul has Adrenomeyloneropathy. Through the ULF, he hopes to raise public awareness about leukodsytrophies, help drive research aimed at finding treatments and cures, and support families who have been affected by leukodystrophies.
Dean and Teryn Suhr
Dean & Teryn are co-founders of MLD Foundation and respectively serve as President and Executive Director. The Foundation serves families around the world with metachromatic leukodystrophy (MLD), a rare terminal neuro-metabolic condition. Two of their three children have MLD, Darcee passed away at age 10 in 1995 and Lindy is alive and doing better than expected at age 35. Dean and Teryn are active on behalf of the MLD, leukodystrophy, lysosomal and rare disease communities. Dean's special interests is in global health policy, newborn screening (RUSP Roundtable is a MLD initiative), registries (PCORI, cross-disease and linking data silos, patient driven researcher quality data, dynamic privacy/sharing, and consent are his hot buttons), diagnostics, consent, privacy, ethics, openNHS, FDA/NIH issues, and empowering other advocacy organizations. Dean and Teryn are particularly passionate about research consortiums such as GLIA and the Lysosomal Disease Network.
Dean is a frequent conference speaker and poster author, regularly "educates" and testifies in Washington DC. His formal schooling at the University of Southern California was in electrical engineering. He spent 30 years working in project management, operations, manufacturing, sales, and strategic business development with early stage and start-up companies. Since 2008 he has focused almost exclusively on non-profit work benefitting the rare disease community. Teryn graduated in 1978 as a registered nurse and spent much of her time in pediatrics, newborn nursery, and hospice home health. She now is focused working with affected families, collaborating with researchers and pushing research forward for MLD and related diseases.
MLD Foundation’s mission is We C.A.R.E.™ ... Compassion for families, increasing Awareness, influencing & funding Research, and promoting Education for Metachromatic Leukodystrophy, a very rare terminal genetic neuro-metabolic disease where over half the cases affect infants.
Jacque L. Waggoner
Hunter's Hope Foundation
The Hunter’s Hope Foundation’s Board of Directors appointed Jacque L. Waggoner to Chief Executive Officer of the Foundation in July 2007. Ms. Waggoner joined Hunter’s Hope Foundation in October of 1997, serving as Chairman of the Board. During her 10-year tenure, Waggoner has played an instrumental role in the development and expansion of the Foundation’s mission while assisting Pro Football Hall of Fame member and former Buffalo Bills quarterback, Jim Kelly and wife Jill, after their infant son, Hunter was diagnosed with Krabbe Leukodystrophy, an inherited, fatal nervous system disease.
Before joining Hunter’s Hope in October 1997, Ms. Waggoner had over 20 years of work experience. She was employed with Computer Task Group (CTG) with corporate headquarters in Buffalo, NY, and served in various Information Technology Management positions including Director of National and International Application Maintenance Outsourcing. Prior to CTG, she served as Director of Business Systems with Layers Cooperative Publishing (Rochester, NY), Systems Engineer/Consultant with Electronic Data Systems (Buffalo, NY), as well as Manager of Academic Computing with Systems & Computer Technology at Genesee Community College (Batavia, NY). Prior to her computer related experience, Ms. Waggoner taught middle and high school mathematics. She has a BS in Mathematics from the University at Buffalo.
Australasian Leukodystrophy Foundation and Leukodystrophy Resource & Research Organization Inc.
Bob Wyborn is the president and founder of the Australasian Leukodystrophy Foundation (ALF), as well as the the president and founder of Leukodystrophy Resource & Research Organisation Inc. (LRRO). He established both of these non-profit organisations to fulfil an urgent need for active and committed companies to promote and fund research into all the Leukodystrophies and to create a holistic resource base to assist all those affected families. Over the years the ALF has created a large and enviable working relationship with the majority of scientists, clinicians and advocate groups that are involved with all the Leukodystrophies. It has very large resource base to assist all those families within Australasia in finding their entitlements and support systems at Federal, State and Local Council levels.
Bob Wyborn’s working background is in sales and marketing fields, mainly in the hardware and engineering fields where he successfully established a proven record in building companies from small beginnings to market forces. He has a Grief &Wellness Services Not For Profit Company which deals with grief at all levels with all community sectors. He is also the president of the Elisabeth Kubler-Ross Foundation Australia.
Alexander Sherman, PhD
Alex has 30+ years of experience in research, software development, software architecture, expert systems design, clinical trials systems design, data management and clinical trials management. As the Director Systems at the Neurological Clinical Research Institute (NCRI), Mr. Sherman is responsible for the successful design, development and deployment of software systems for numerous clinical trials and biomarker studies in ALS, Huntington’s disease, Parkinson’s disease, stroke and depression. Alex conceived and was instrumental in design, development and adoption by the international research community of NeuroBANK™, an accelerated clinical research platform, and ALSBANK™ platform, a virtual distributed biorepository currently utilized by numerous researchers and institutions. His team was responsible for design and implementation of PRO-ACT project that created the largest clinical dataset in ALS (10,700+ subjects) and is the de-facto reference dataset in ALS research. This platform was selected as the Best Bio-IT project of 2013 by the Bio-IT World Congress. Alex served on the NINDS Common Data Elements committee, is the Chair of the NeuroBANK™ committee of NEALS and is a Board Member of the ALS Research Group (ALSRG) and ALD Connect consortium. Mr. Sherman holds Masters of Science degree in Nuclear Engineering and graduated from a doctorate program in Nuclear Engineering. He is a Principal Associate in Neurology at Harvard Medical School.
Alex's interests and passion are in developing collaborations in clinical research and building disease-specific research networks and consortia to achieve “Big Data” in rare diseases. He is a frequent speaker at academic and industry conferences and has many publications on the topics of collaboration in clinical research, data and biospecimen sharing and technology utilization for these purposes.
Omar Sherbini, MPH (Clinical Research Coordinator)
Omar Sherbini is one of the newest members of the Global Leukodystrophy Initiative, having joined Dr. Vanderver's team at Children's National in August 2015 as a clinical research coordinator. Aside from his clinical/research responsibilities, Omar manages GLIA's day-to-day activities, which may include:
- Serving as a liaison between GLIA's clinicians and researchers during research initiatives;
- Engaging with patient advocacy groups and, oftentimes, patient families directly to get them involved in GLIA's strategic planning;
- Event planning, including the organization of annual scientific and family conferences for GLIA members;
- Community outreach and PR.
Before joining the GLIA team, Omar obtained a Master of Public Health (MPH) degree from Johns Hopkins, with a focus on infectious diseases. He previously worked in a research laboratory - also at Johns Hopkins - where he investigated stroke pathophysiology and preventative therapies using live animal models.