Learn more about the 2026 Medical Symposium Speakers.
Dr. Laura Adang | 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 MD and PhD. 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. She completed additional fellowship training in multiple sclerosis and leukodystrophies and a Masters of Translational Research at the Institute for Translational Medicine and Therapeutics (ITMAT) of the Perelman School of Medicine at the University of Pennsylvania. Her primary research focus is clinical trial readiness for leukodystrophies.
Joshua L. Bonkowsky, MD, PhD | Chief of the Division of Pediatric Neurology
Dr. Josh Bonkowsky is a professor of Pediatrics at the University of Utah School of Medicine and Primary Children’s Hospital, Chief of the Division of Pediatric Neurology, and Director of the Center for Personalized Medicine. After graduating from Harvard College, he spent one year on a Fulbright Fellowship in Vienna, Austria, followed by MD and PhD training at U.C.S.D. Dr. Bonkowsky is a physician-scientist with interests in clinical and bench research, including the pathophysiology, outcomes, and treatments for leukodystrophies. Since 2006, Dr. Bonkowsky has personally mentored more than 70 trainees; more than half of whom are women or under-represented minority trainees. Together with his wife, a pediatric infectious disease physician, he juggles his personal and professional responsibilities. In his “spare” time he enjoys camping with his daughter, building a quasi-functional radio telescope with his sons, and trail running.
Andrea E. DeBarber, PhD | Research Associate Professor at Oregon Health & Science University (OHSU)
Dr Andrea E. DeBarber is a Research Associate Professor at Oregon Health & Science University (OHSU), where she oversees the OHSU Sterol Analysis Laboratory which performs biochemical diagnostic testing for Cerebrotendinous Xanthomatosis (CTX). Over the last decade, Dr DeBarber’s laboratory has validated multiple blood and urine CTX biomarkers that are useful both for diagnosis and to monitor the efficacy of therapy for CTX. In addition, Dr DeBarber serves as co-chair of the Medical & Scientific Advisory Board for the CTX Alliance patient advocacy group and is leading efforts to get CTX added to the RUSP.
Christine Duncan, MD | Director, Gene Clinical Research and Clinical Development, Boston Children’s Hospital
Dr. Christine Duncan focuses on the cellular therapy of children with rare, nonmalignant disorders and the and the long-term effects of pediatric hematopoietic cell transplant (HCT) and gene therapy. Dr. Duncan has been in an
attending and clinical researcher in this space since 2007.
During that time she has served in multiple leadership capacities at our center and in international consortia. The current focus of her work is the cellular therapy of children with rare neurologic and2 metabolic diseases with an emphasis on patients diagnosed with adrenoleukodystrophy. Dr. Duncan has led multiple international studies of gene therapy for boys with the cerebral form of this rare, X-linked disease.
S. Ali Fatemi, MD | Pediatric Neurologist
Dr. Ali Fatemi, is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Moser Center for Leukodystrophies at Kennedy Krieger Institute and holds the Blum-Moser Chair for Pediatric Neurology. Dr. Fatemi is also professor of neurology and pediatrics at Johns Hopkins University. His research focuses on gene targeted therapies for the leukodystrophies.
Michael Gelb, PhD | Boris and Barbara L. Weinstein Endowed Chair in Chemistry, University of Washington
Dr. Michael H. Gelb is the Boris and Barbara L. Weinstein Endowed Chair in Chemistry in the Department of Chemistry and Department of Biochemistry at the University of Washington. He holds a Ph.D. from Yale University, and was an American Cancer Society Postdoctoral Fellow at Brandeis University with Professor Robert H. Abeles. In 1985, he joined the faculty of chemistry at the University of Washington. The Gelb research laboratory combines chemical and molecular and cellular biochemistry techniques to study enzymatic processes of medical importance.
Major achievements include: 1) Discovery of protein prenylation; 2) The development of Isotope-Coded Affinity Tags (ICAT) for quantitative proteomics; 3) The development of assays for newborn screening of metabolic diseases; 4) Development of drugs to treat tropical parasite diseases; 5) Discovery of phospholipases A 2 and understanding their mode of action. In the area of newborn screening, assays for approximately half of the diseases added to the Recommended Newborn Screening Panel (RUSP) over
the past decade have been developed in the Gelb laboratory.
He has received a number of awards including the Repligen Award and the Pfizer Award in Biological Chemistry (American Chemical Society), the ICI Pharmaceuticals Award for Excellence in Chemistry (AstraZeneca, Inc.), the Gustavus John Esselen Award (Harvard University), Merit Award (National Institutes of Health), Medicines for Malaria Venture Project of the Year (MMV, Geneva), Guthrie Award (International Society of Neonatal Screening), and the University of Washington Faculty Lecture Award. He is a Fellow of the American Association for the Advancement of Sciences and a Fellow of the Alfred P. Sloan Foundation.
Rafael Galindo, MD, PhD | Washington University School of Medicine
Dr. Rafael Galindo is an Associate Professor of Neurology at Washington University School of Medicine and Director of the WashU Leukodystrophy and Neurometabolic Care Center. He specializes in newborn neurological disorders, leukodystrophies, and neurometabolic diseases. Dr. Galindo’s research focuses on the mechanisms of neuronal degeneration in the neonatal brain and the development of neuroprotective strategies. He also serves as Co-Director of the Research Development Program at the Institute of Clinical and Translational Sciences and is committed to mentoring early-career investigators through various NIH-funded training initiatives.
Joanne Kurtzberg, MD | Medical Director, Duke Marcus Center for Cellular Cures
Dr. Joanne Kurtzberg is an internationally renowned expert in pediatric hematology/oncology, pediatric blood and marrow transplantation, diagnosis and treatment of pediatric patients with leukodystrophies, umbilical cord blood banking and transplantation, and novel applications of cord blood and birthing tissues in the emerging fields of cellular therapies and regenerative medicine. Dr. Kurtzberg serves as the Director of the Marcus Center for Cellular Cures (MC3), Director of the Pediatric Transplant and Cellular Therapy Program, Director of the Carolinas Cord Blood Bank, and Co-Director of the Stem Cell Transplant Laboratory at Duke University. The Carolinas Cord Blood Bank is an FDA licensed public cord blood bank distributing unrelated cord blood units for donors for hematopoietic stem cell transplantation (HSCT) through the CW Bill Young Cell Transplantation Program. The Robertson GMP Cell Manufacturing Laboratory supports manufacturing of RETHYMIC (BLA, Enzyvant, 2021), allogeneic cord tissue derived and bone marrow derived mesenchymal stromal cells (MSCs), and DUOC, a microglial/macrophage cell derived from cord blood. Dr. Kurtzberg’s research in MC3 focuses on translational studies from bench to bedside, seeking to develop transformative clinical therapies using cells, tissues, molecules, genes, and biomaterials to treat diseases and injuries that currently lack effective treatments. Recent areas of investigation in MC3 include clinical trials investigating the safety and efficacy of autologous and allogeneic cord blood in children with neonatal brain injury – hypoxic ischemic encephalopathy (HIE), cerebral palsy (CP), and autism. Clinical trials testing allogeneic cord blood are also being conducted in adults with acute ischemic stroke. Clinical trials optimizing manufacturing and testing the safety and efficacy of cord tissue MSCs in children with autism, CP and HIE and adults with COVID-lung disease are underway. DUOC, given intrathecally, is under study in children with leukodystrophies and adults with primary progressive multiple sclerosis. In the past, Dr. Kurtzberg has developed novel chemotherapeutic drugs for acute leukemias, assays enumerating ALDH bright cells to predict cord blood unit potency, methods of cord blood expansion, potency assays for targeted cell and tissue based therapies. Dr. Kurtzberg currently holds several INDs for investigational clinical trials from the FDA. She has also trained numerous medical students, residents, clinical and post-doctoral fellows over the course of her career. Finally, over the past 20 years, Dr. Kurtzberg has advocated for newborn screening for babies with inherited brain disorders including Krabbe disease which was added to the RUSP in July of 2024.
Dietrich Matern, MD, PhD | Director, Biochemical Genetics Laboratory at Mayo Clinic
Dr. Dietrich Matern is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and co-director of the Biochemical Genetics Laboratory at the Mayo Clinic in Rochester, Minnesota. He has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly lysosomal disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, and amino acidopathies.
Amanda Nagy, MD | Instructor in Neurology, Massachusetts General Hospital
Dr. Amanda Nagy received her M.D. from the Case Western Reserve University School of Medicine. After graduating from medical school, she completed Child Neurology residency training at Massachusetts General Hospital. She then completed a fellowship in Neurogenetics and Gene Therapy at Mass General Brigham, where she developed her interest in clinical trials. Now, as an Instructor in Neurology at Harvard Medical School, her clinical interests focus on rare neurogenetic disorders with a specific emphasis on leukodystrophies. Her research concentrates on the use of magnetic resonance imaging to understand disease severity and clinical progression in the leukodystrophies and defining the natural history of monogenic disorders to prepare for clinical trial readiness.
Paul Orchard, MD | Director, Inherited Metabolic and Storage Disease Program
Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program, and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in the use of hematopoietic stem cell transplantation (HSCT) and other cell therapies, including gene therapy, to improve outcomes. In addition to his clinical work with patients who have inherited metabolic diseases, Dr. Orchard is engaged in research designed to identify strategies that enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes. Other interests include the modification of stem cell transplant approaches and combination therapies to improve outcomes for patients with inherited diseases, and the potential to develop multi-institutional cooperative studies for these disorders.
Joe Orsini, PhD | New York Newborn Screening Program
Dr. Joseph Orsini is the Deputy Director for the New York Newborn Screening Program. Dr. Orsini’s laboratory was the first to implement newborn screening for Krabbe disease (KD), applying the research method of Gelb and coworkers to high throughput screening. Dr. Orsini worked with Genzyme (Currently Sanofi) in developing a test that could screen for psychosine, this is a substrate of galactocerebrosidase, the enzyme that is deficient in Krabbe disease patients.
Jenn Orthmann-Murphy, MD, PhD | Assistant Professor of Neurology, University of Pennsylvania
Dr. Jenn Orthmann-Murphy is an assistant professor in Neurology at the University of Pennsylvania. She leads a translational research program studying the role of glial cells in acquired and inherited myelin disorders. She also sees patients with multiple sclerosis, and leads an ‘Undiagnosed White Matter Disorders’ neurogenetics clinic. She is co-director of the Age Span Fellowship in Multiple Sclerosis and Neuroinflammatory disorders.
Margie Ream, MD, PhD | Pediatric Neurologist
Dr. Margie Ream is a Child Neurologist, Associate Professor, and Residency Program Director in the Department of Pediatrics at Nationwide Children’s Hospital/The Ohio State University College of Medicine. She has an extensive research background in fetal physiology and nervous system development as this was the focus of her PhD thesis work. She has public policy experience and subject matter expertise regarding leukodystrophies and other rare genetic disease as Director of the Leukodystrophy Clinic at Nationwide Children’s Hospital, member of the Ohio Newborn Screening Advisory Council, member of the Secretary’s Advisory Council for Heritable Disorders in Newborns and Children’s (ACHDNC) Follow Up and Treatment Workgroup, and as co-investigator for the ACHDNC Evidence Review Group. She serves on the Hunter’s Hope Krabbe NBS Council, coauthored a case series of infants with early infantile Krabbe disease recently identified by newborn screening, helped develop recommendations for follow up of infants identified as at risk of late onset Krabbe disease and is working on describing a consensus approach to long term neurodiagnostic follow up of patients with infantile Krabbe disease transplanted early in life.
Robert Thompson Stone, MD | Pediatric Neurologist
Dr. Robert Thompson Stone is a pediatric neurologist with special expertise in caring for children with immune conditions affecting the neurologic system and those with inherited disorders of white matter (leukodystrophy). He currently serves as Director of the Pediatric Neuroimmunology and Multiple Sclerosis Program and Director of the UR Leukodystrophy Care Center.
Amy White, MS, CGC | Genetic Counselor
Amy White is a laboratory genetic counselor at Mayo Clinic Biochemical Genetics Laboratory, where she specializes in diagnostic testing of inborn errors of metabolism, communication with physicians and other clinicians, and scientific education and research activities. She is an Assistant Professor of Laboratory Medicine and Pathology in Mayo Clinic College of Medicine and Science. Prior to this, she was a clinical genetic counselor in the Metabolic Genetics Clinic at Children’s Wisconsin for over 12 years. She has been actively involved in newborn screening programs in both Wisconsin and Minnesota for over 20 years.
White completed her undergraduate degree at Lawrence University and obtained a master’s degree in Medical Genetics-Genetic Counseling from the University of Wisconsin-Madison. She is board-certified by the American Board of Genetic Counseling and a licensed genetic counselor in Minnesota.