2026 Medical Symposium Speaker Directory

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.

Catherine Becker, NP | Pediatric Nurse Practitioner

Catherine (Catie) Becker is a Pediatric Nurse Practitioner at Massachusetts General Hospital (MGH). Catie received her master’s degree in Pediatric Acute/Chronic Advanced Practice Nursing from the University of Pennsylvania. She has spent the last 15 years working in pediatric neurology at MGH as. Catie joined the MGH Leukodystrophy clinic in 2011. Since 2011 she has been fortunate to work with a multidisciplinary team of care providers treating both children and adults with leukodystrophy, while participating in multiple ongoing clinical trials. Catie looks forward to the Hunter’s Hope meeting every year where she leaves feeling even more inspired and determined to push care forward for every individual living with a leukodystrophy.

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.

Florian Eichler, MD | Neurologist

Dr. Florian Eichler is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. He is also the Katherine B. Sims Chair in Neurogenetics. As Director of the Leukodystrophy Service and Director of the Center for Rare Neurological Diseases (CRND) at MGH, he aims to advance care and treatment for devastating neurogenetic conditions.

Sally Evans, MD | Pediatric Physiatrist

Dr. Sally Evans is a pediatric physiatrist with more than 30 years of experience in the field. She is the Chief of the Division of Rehabilitation Medicine as well as the Medical Director for the Center for Rehabilitation at the Children’s Hospital of Philadelphia and a Professor of Clinical Pediatrics and Physical Medicine and Rehabilitation at the Perlman School of Medicine at the University of Pennsylvania. Her clinical expertise spans the field of pediatric rehabilitation medicine; she has published widely about topics including tone management, neuromuscular rehabilitation and rehabilitation robotics. Her international work includes presenting at conferences in the United States and Canada as well as in Europe, China and the Gulf States. In conjunction with colleagues at Children’s National Medical Center, she holds a patent for a robot to increase strength, range of motion and motor control of the foot across the ankle. Dr. Evans is board certified in Pediatrics, Physical Medicine and Rehabilitation and Pediatric Rehabilitation Medicine.

S. Ali Fatemi, MD | 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. 

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.

Michael Gelb, PhD | Professor, Boris and Barbara L. Weinstein Endowed Chair in Chemistry

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.

Steven Gray, PhD | Gene Therapy Researcher and Professor

Dr. Steven Gray received a B.S. degree with honors from Auburn University followed by a Ph.D. in molecular biology from Vanderbilt University and postdoctoral training at the UNC Chapel Hill Gene Therapy Center.  He is currently the Helen J and Robert S Strauss Distinguished Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center.  Dr. Gray co-directs the UTSW Gene Therapy Program.  He maintains secondary appointments with the Department of Molecular Biology, the Department of Neurology, and the Eugene McDermott Center for Human Growth and Development at UT Southwestern.  Dr. Gray’s core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system.  His research focus has also been heavily focused in developing AAV-based treatments for neurological diseases, several of which have translated into clinical trials. He is inventor on over 25 awarded or pending patents and author on over 100 publications related to gene therapy. 

Patricia Hunt, B.A. | NBS Branch Manager

Patricia Hunt has a B.A. in Microbiology from the University of Texas at Austin. Her more than 30 years of laboratory experience includes Clinical Chemistry and Newborn Screening. In November 1999 Ms. Hunt joined the Newborn Screening Program as the supervisor of the Metabolic Screening Team, where she oversaw testing procedures for PKU and Galactosemia.  In July 2006, Ms. Hunt was promoted to manager of the Newborn Tandem Mass Spectrometry Screening Laboratory and was instrumental in the successful implementation of screening for 19 additional amino acid, fatty acid oxidation and organic acid disorder, expansion to add testing of additional markers for secondary targets, development and oversight of the addition of second-tier liquid chromatography-tandem mass spectrometry (LC-MS/MS) tests for Congenital Adrenal Hyperplasia and X-linked Adrenoleukodystrophy.  Additionally, Ms. Hunt was a member of the APHL Newborn Screening Quality Assurance and Quality Control Subcommittee serving as the Co-Chair of the committee for 6 years.  Currently, Ms. Hunt serves as the Branch Manager of the Newborn Metabolic Screening Branch at the Texas Public Health Laboratory.  She most recently managed the addition of newborn screening biochemical tests for Lysosomal Diseases by LC-MS/MS.

Stephanie Keller, MD | Pediatric Neurologist

Dr. Stephanie Keller is a Pediatric Neurologist at Children’s Healthcare of Atlanta and Associate Professor of pediatrics and neurology at Emory University School of Medicine. She serves as Medical Director of the Neurogenetic and Metabolic Disease Program, as well as Director of the Leukodystrophy Care Network Certified Center at Children’s.

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.

Zachery Leeker | NBS Program Manager

Zac Leeker’s first introduction to Krabbe disease was in 1999 when his brother, Trevor, was born and diagnosed. After Trevor passed away in 2001, Zac and his family spent the better part of two decades advocating for expanded newborn screening, raising awareness for Krabbe Disease through medical school scholarships, and providing support to recently diagnosed families. In 2022, Zac became the program manager of newborn screening in his home state of Kansas. Through his efforts, expanded the state screening panel by 5 conditions, including Krabbe Disease. In 2025 Zac transitioned to taking over newborn screening in Iowa, and tangentially, North Dakota, South Dakota, and Alaska.

Yedda Li, MD, PhD | Neurologist

Dr. Yedda Li is an adult neurologist and physician scientist with a deep, longstanding commitment to leukodystrophy care and research. She received her MD and PhD degrees from Washington University in St. Louis, where she studied the pathophysiology and treatment of globoid cell leukodystrophy under the mentorship of Mark Sands, PhD. She subsequently completed her neurology residency at Mass General Brigham and her neurogenetics and gene therapy fellowship under the mentorship of Florian Eichler, MD. Dr. Li is opening a new adult leukodystrophy clinic at Mass General Brigham. This clinic is dedicated to the diagnosis and treatment of adult patients, including those with adult-onset leukodystrophies and those transitioning from pediatric care. Her clinical work is complemented by ongoing research into leukodystrophy disease mechanisms and the development of effective gene-based treatment strategies.

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

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.

Jennifer Rubin, MD | Neurologist

Dr. Jen Rubin is a child neurologist at Ann & Robert H. Lurie Children’s Hospital of Chicago where she is director of the Leukodystrophy Care Center, a multidisciplinary program developed to provide the best possible care to patients with leukodystrophies and their families at every stage of their disease.

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.