We would like to introduce you to the incredible list of speakers for our 2020 Global Virtual Leukodystrophy Symposium.
Laura Adang, MD PhD MSTR | Pediatric Neurologist
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. 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 has completed additional fellowship training in multiple sclerosis and leukodystrophies and a Masters of Translational research at the University of Pennsylvania. Her primary clinical focus is the care of children with white matter disorders and neuroinflammatory conditions.
Michael Shapiro Barr, Director of Business Development at Backpack Health
Michael Shapiro Barr is the Director of Business Development at Backpack Health, a health technology platform innovator focused on putting patients and foundations first. Michael focuses on working with patients and foundations to identify community needs, provide health management solutions, and empower patients to play an essential role in research and innovation.
Michael has spent most of his professional life involved in the healthcare industry, previously holding business development positions at several law firms that focused on a variety of life sciences issues, including patient rights, privacy, data management, research and ethics. Having been with Backpack Health since nearly its beginning, Michael retains his passion to help those within the rare disease community.
Khaja Basheeruddin, PhD│ IL Department of Health
Khaja Basheeruddin is associated with Newborn Screening Section at Illinois Department of Public laboratory at Chicago. He obtained his Ph.D. in biochemistry from the University of London, UK and completed a post-doctoral fellowship at Johns Hopkins School of Medicine in endocrinology and metabolism. Prior to joining IL public health, he worked in Cook County Hospital Chicago as a manager molecular diagnostic division and associate director of point of care testing program. Dr. Basheeruddin was a member of Institutional Review board of Cook County Bureau of Health. He loves outdoor fun starting from backyard gardening to foreign travel.
Catherine "Catie" Becker | 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.Click here to find out more
Joe Biedenkapp | Senior Director and Program Lead, bluebird bio
Joe Biedenkapp is a Senior Director and Program Lead at bluebird bio, a company leading the gene therapy revolution. With its lentiviral-based gene therapies, T cell immunotherapy expertise and gene editing capabilities, bluebird bio has built an integrated product platform with broad potential application to severe genetic diseases and cancer. Joe serves as the Program Lead for bluebird’s investigational Lenti-D gene therapy program for the treatment of cerebral adrenoleukodystrophy. In addition, he is responsible for shepherding other early stage programs through research, development, and ultimately commercialization. Prior to taking on program leadership responsibilities, Joe worked within the Medical Affairs organization in support of the cerebral adrenoleukodystrophy program. Prior to joining bluebird, Joe was a part of the Medical Affairs team at Dyax, a biopharmaceutical company focused on identifying and developing treatments for hereditary angioedema and other plasma-kallikrein-mediated diseases. At Dyax, Joe served in a variety of roles in medical research, communications, and publications. He received his undergraduate degree in Philosophy from the University of Vermont and his PhD in Neuroscience from the University of Colorado at Boulder. He conducted his postdoctoral research at the Picower Institute for Learning and Memory at MIT. Joe is passionate about rare disease drug development, with particular interest in pediatric neurologic diseases, gene therapy, and working to overcome barriers in the development of treatments for even the rarest of diseases.
Karlita Blackwell | Family Advocate
Karlita Blackwell is from St. Louis, Missouri where she has worked in social services at a non-profit organization for the past seven years. Her son, Ezra, was born in October 2016 and was the first infant in Missouri to receive a positive newborn screening for Krabbe Disease. Ezra received a cord blood transplant at Duke University on November 17, 2016. He is now three years old and is doing wonderfully. Karlita has participated with a Hunter’s Hope workgroup on their research and efforts to publish a piece on the families’ perspectives of the importance of Krabbe newborn screening. She is passionate about educating others on the importance of newborn screening in each state and also has a heart for speaking with families who have just received their diagnosis.
Josh Bonkowsky, MD, PhD | Pediatric Neurologist
Josh Bonkowsky is a pediatric neurologist specializing in clinical care and research. He is a professor of Pediatrics at the University of Utah School of Medicine.
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).
A physician-scientist with interests in clinical and bench research, he studies nervous system development and disease. He has been continuously funded by NIH since 2006, including award of the 2012 Director’s New Innovator grant; and his bibliography includes over 90 peer-reviewed articles.
Dr. Bonkowsky is the Division Chief of Pediatric Neurology at Primary Children’s Hospital, and the Director of the Primary Children’s Center for Personalized Medicine. In addition to these duties, he enjoys his more informal roles, such as the summer picnic with taco truck; and, critically, the Annual Cookie Contest.
Since 2006, Dr. Bonkowsky has personally mentored 60 trainees; including 35 women, and 7 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.Click here to find out more
Allison M. Bradbury, MS, PhD | Asst. Professor and Researcher
Allison M. Bradbury, MS, PhD is an assistant professor in the Department of Pediatrics at The Ohio State University and a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital. Dr. Bradbury earned her PhD in Biomedical Sciences from Auburn University with her doctoral research focused on development of adeno-associated virus (AAV) gene therapy for the GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases), which is currently in human clinical trials. During her NRSA Postdoctoral Research Fellowship at the University of Pennsylvania, Dr. Bradbury evaluated disease mechanisms and developed gene therapy approaches for globoid cell leukodystrophy, also known as Krabbe disease. She joined the Center for Gene Therapy at Nationwide Children’s Hospital in January 2020 where her lab is dedicated to understanding disease mechanisms and developing therapeutic approaches for rare, pediatric neurological disorders.
Andrea DeBarber, PhD | Associate Professor at Oregon Health & Science University
Andrea DeBarber, PhD, Research Associate Professor at Oregon Health & Science University (OHSU), Portland OR, oversees the OHSU Sterol Analysis Laboratory that performs blood and urine testing for diagnosis and therapeutic monitoring of cerebrotendinous xanthomatosis (CTX). Dr. DeBarber also oversees an independent research program at OHSU, where the focus of her research has been on developing improved diagnostic and screening tests for rare genetic disorders of sterol and bile acid synthesis. Most recently she has worked on developing LC-MS/MS based newborn screening for CTX. Left untreated, CTX can cause irreversible neurological damage, developmental and cognitive disability, and premature death. Early identification of this disorder, for example with newborn screening, would be highly significant as the burden of disease if left untreated can be profound, and morbidity and mortality easily prevented through early detection and intervention.
George Dizikes, PhD | TN Department of Health
George Dizikes is the Director of the Tennessee Department of Health Laboratory at Knoxville. He obtained his PhD in microbiology from the University of Minnesota and completed a post-doctoral fellowship at UCLA on the genetics of metabolic diseases. Prior to coming to Knoxville in 2015, Dr. Dizikes spent nineteen years with the Illinois Department of Public Health laboratory at Chicago, where he had been the laboratory manager, supervised the molecular diagnostics and newborn screening sections, and served as CLIA director. Since coming to Tennessee, he has advised the newborn screening program, particularly on issues of timeliness and the implementation of screening for disorders recently added to the RUSP. Dr. Dizikes also serves as co-chair of the Tennessee Genetics Advisory Committee.
Sika Dunyoh | Associate Director of Patient Advocacy at Retrophin
Sika Dunyoh is Associate Director of Patient Advocacy at Retrophin. In her role, she is responsible for supporting and developing meaningful relationships with the rare disease communities she serves through strategic collaboration and partnerships. Additionally, Sika is leading the development of initiatives to address diversity in the rare disease space.
Before joining Retrophin, Sika was the Director of Education Programs at the National Organization for Rare Disorders, where she developed and managed programs designed to educate patients and caregivers, healthcare professionals and students. This included NORD’s annual Rare Diseases and Orphan Products Breakthrough Summit. While at NORD, Sika also established a partnership with Platform Q, an online continuing medical education company to deliver quality education to clinicians around the world. In addition, she created NORD’s popular monthly educational webinar series for patients and caregivers.
Prior to NORD, Sika spent almost 15 years developing marketing strategies for scientific societies and developing engaging educational resources for scientific, technical and medical (STM) professionals and researchers.
In 2015, Sika founded Shine Light on Rare Diseases, an awareness initiative she established in memory of her sister, Carolyn, who passed away from complications of relapsing polychondritis, a rare autoimmune disease. The goal of Shine Light on Rare Diseases was to highlight the prevalence of rare diseases and to help people with rare diseases receive faster diagnoses to save and improve the quality of their lives.
Sika volunteers her time to global health organizations and mentors young professionals pursuing careers in marketing and rare diseases.
Florian Eichler, MD | Neurologist
Dr. Eichler is an Associate Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. He serves as the Director of the Leukodystrophy Service at MGH, Director of the Center for Rare Neurological Diseases at MGH, chair of the Rare Disease Think Tank at MGH, and cofounder and president of the international consortium ALD Connect.Click here to learn more...
S. Ali Fatemi, MD | Pediatric Neurologist
S. Ali Fatemi, M.D., 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.Click here to find out more
Nasha Fitter MBA | Ciitizen
Nasha‘s career shifted from technology to rare disease and biotech after her daughter’s diagnosis. Formerly, she was the founder and CEO of tech startup Schoolie, which was acquired in 2016 by GreatSchools. She also was a Director at Microsoft Corp where she held various management and product development positions, including Chief-of-Staff for Microsoft’s billion dollar education division.
Michael H. Gelb , PhD | Professor of Chemistry
Michael H. Gelb is Professor of Chemistry and Barbara L. Weinstein Endowed Chair in Chemistry, Adjunct Professor of Biochemistry at the University of Washington. Major developments in the Gelb lab include discovery of protein prenylation, development of ICAT proteomic reagents, identification of phospholipases involved in lipid mediator generation, development of anti-parasite drugs, and development of mass spectrometry for newborn screening. Awards include: Repligen Award in Chemistry of Biological Processes (Amer. Chem. Soc.), Univ.of Washington Faculty Lecture Award, Gustavus John Esselen Award (Harvard Univ.), AAAS Fellow, NIH Merit Award, Medicines for Malaria Project of the Year Award, Pfizer Award in Enzyme Chemistry, ICI Pharmaceuticals Award for Excellence in Chemistry. The Gelb lab has published more than 500 papers and 100 patents in biological chemistry. The Gelb laboratory has developed mass spectrometry for worldwide newborn screening of lysosomal storage diseases (the latest expansion of newborn screening panels).
Angela D. Gumby | Pennsylvania Department of Public Health Public Health Program Administrator
Ms. Gumby graduated from the Pennsylvania State University December 1992 with a Bachelor of Humanities and a Minor in Business. She is currently employed by the Commonwealth of Pennsylvania, Department of Public Health as a Public Health Program Administrator. Ms. Gumby’s primary job duties and responsibilities include Dried Blood Spot Coordinator for the Bureau of Family Health’s Division of Newborn Screening and Genetics. She has over 27 years of health insurance related experience including 8 years in private business assisting hospital providers and physicians with billing, claims submission and claims processing; 19 years in government health programs including systems construction, implementation and monitoring requirements, claims submission and processing requirements, prior authorization criteria, pharmacy drug claims criteria and system requirements, program communication and coordination and project management. In her spare time she enjoys playing the piano and making gift baskets. She reside in Harrisburg, PA and has two adult children, Danielle and Napier.
Madhuri Hegde, Ph.D., FACMG | VP and Chief Scientific Officer, Global Laboratory Services, PerkinElmer
Dr. Hegde is the VP and Chief Scientific Officer, Global Laboratory Services, PerkinElmer and Adjunct Professor of Genetics and Pediatrics at Emory University and Georgia Tech. Previously, she was the Executive Director of Emory Genetics Laboratory and Professor of Genetics and Pediatrics at Emory University. The focus of her clinical work is the development and implementation of high-throughput strategies for discovery and clinical testing for rare disorders using next generation sequencing (NGS), robotics, clinical exome and genome sequencing, and oligonucleotide array platforms. Her recent work is focused developing strategies for offering clinical genome sequencing for newborns and adult (neurology) populations. Her research work is focused on neuromuscular disorders and understanding the impact rare variant burden in genetic diseases. Dr.Hegde has over 20 years’ experience in clinical diagnostics, which includes laboratory administration, management, developing tools for analysis and interpretation for genomic variation , and consultation with molecular diagnostic companies. She has extensive knowledge of CLIA and CAP regulations related to LDTs and NGS and a strong understanding of current reimbursement landscape and new CPT coding guidelines. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She completed post-doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics.
Kim Hollandsworth BSN, RN, CPN | Registered Nurse
Ms. Hollandsworth is the Nurse Coordinator for Neurogenetics/Metabolism at Kennedy Krieger Institute. Her experience with leukodystrophies started in 1991 at Johns Hopkins Hospital for 10 years and then onto Kennedy Krieger Institute for a total of 29 years. She has been involved in both research and clinical care. Ms. Hollandsworth feels fortunate to work with such a great team who cares so much for their leukodystrophy families and is proud to be a part of Hunter’s Hope!Click here to find out more
Stephanie Keller, MD | Pediatric Neurologist
Stephanie Keller, MD, is a Pediatric Neurologist at Children’s Healthcare of Atlanta (CHOA) and is an 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. In 2016, she created the Leukodystrophy Care Center at CHOA, a multidisciplinary clinic that includes neurology, physiatry, physical therapy, social work and genetic counseling. This clinic became a Leukodystrophy Care Network Certified Center in 2019.Click here to find out more
Tracy Klug |Manager, Newborn Screening Unit of the Missouri State Public Health Laboratory
Tracy Klug is the manager of the Newborn Screening Unit of the Missouri State Public Health Laboratory. She has over 15 years’ experience in Newborn Screening, starting as a scientist in the laboratory and working her way up, and has taken a lead role in implementing new disorders in the laboratory throughout her tenure. She is a member of the Association of Public Health Laboratories’ Newborn Screening Committee.
Joanne Kurtzberg, MD | Jerome Harris Distinguished Professor of Pediatrics
Jerome Harris Distinguished Professor of Pediatrics
Professor of Pathology
Director, Marcus Center for Cellular Cures (MC3)
Director, Pediatric Blood and Marrow Transplant Program
Director, Carolinas Cord Blood Bank at Duke
Co-Director, Duke Hospital Stem Cell Transplant Laboratory
Dr. Kurtzberg is an internationally renowned expert in pediatric hematology/oncology, pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation, and novel applications of cord blood 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 Blood and Marrow Transplant Program, Director of the Carolinas Cord Blood Bank, and Co-Director of the Stem Cell Transplant Laboratory at Duke University.
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, which are funded by the Marcus Foundation, include the use of autologous cord blood in children with neonatal brain injury, cerebral palsy, and autism, as well as preclinical studies manufacturing microglial oligodendrocyte-like cells from cord blood to treat patients with acquired and genetic brain diseases. Studies of donor cord blood cells in adults with stroke and children with cerebral palsy and autism are also underway.
Dr. Kurtzberg’s lab has developed novel chemotherapeutic drugs for T-cell Leukemias, assays enumerating ALDH bright cells to predict cord blood potency from segments attached to cryopreserved cord blood units, and is performing translational research testing cord blood expansion, cellular targeted therapies and tissue repair and regeneration. Dr. Kurtzberg currently holds several INDs for investigational clinical trials.Click here to learn more
Eric Mallack, MD | Pediatric Neurologist
Dr. Mallack is the Director of the Leukodystrophy Center at Weill Cornell Medicine. He is an Assistant Professor of Pediatrics and Neurology in the Division of Child Neurology, Assistant Attending at NewYork-Presbyterian Hospital/Komansky Children’s Hospital, and an Assistant Attending Neurologist at Memorial Sloan Kettering Cancer Center.Click here to find out more
Dietrich Matern, MD, PhD | Director, Biochemical Genetics Laboratory at the Mayo Clinic
Dietrich Matern, M.D., Ph.D., 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. Dr. Matern’s research activities involve the development and improvement of laboratory assays for the effective and efficient screening, diagnosis and follow-up of patients with inborn errors of metabolism. He has also participated in the laboratory evaluation of animal models and clinical trials as a collaborator with colleagues at Mayo Clinic and other academic institutions. He authored or co-authored more than 150 peer-reviewed publications and 20 textbook chapters. Since 2005, Dr. Matern has been a member and co-chair (2016-present) of the American College of Medical Genetics and Genomics’ (ACMG) ACTsheet and Confirmatory Algorithms Workgroup. Since 2001 he has been an active member of the Minnesota State Advisory Committee on Heritable and Congenital Disorders, and from 2011 to 2018 was a voting member on the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to the U.S. Secretary of Health and Human Services. He was a board member of the Society for Inherited Metabolic Disorders (SIMD) from 2008 to 2015, and faculty of SIMD’s North American Metabolic Academy (NAMA) from 2007 to 2011. Dr. Matern currently serves on ACMG’s Board of Directors, is a member of the CAP/ACMG Biochemical & Molecular Genetics Resource Committee, and serves on working groups of patient advocacy organizations, the Association of Public Health Laboratories (APHL), and the Clinical Laboratory Standards Institute (CLSI).Click here to find out more
Amy May | Patient Advocate
Amy lives outside of Nashville, in Franklin Tennessee. Amy is a CPA and works part-time doing Business Management for Music Industry clients. She and her husband Phil have 4 children: Jackson (22), Conner (19), Dylan (would be 16 now) and Sophie (13). Dylan was diagnosed with Krabbe Disease on 10/4/2004, and lived until 10 days before his 5th birthday. Caring for and losing Dylan was life-changing for the whole family. Amy is on the LCN Steering Committee to help those who “walk behind”.
Miranda McAuliff BA, MPA | Patient Advocate
Miranda McAuliffe is an advocate with the ALD Alliance. She graduated from Marist College with a BA in communications and received her MPA from Baruch College. Prior to assisting with needs of the ALD Alliance, she worked as a blood drive coordinator for The New York Blood Center and an assistant director of admissions for St. Paul’s School of Nursing. She lives on Staten Island with her husband and son, Jack, who was diagnosed with adrenoleukodystrophy (ALD) at birth thanks to the implementation of newborn screening in New York.
Joseph 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. This and three additional studies showed that psychosine is very elevated in newborns that will be affected by the infantile form of KD. Additionally, the testing shows that second tier testing for psychosine can significantly reduce the number of false positive KD. Dr. Orsini is working with Gelb, Matern, the New York State Krabbe Consortium, and the Krabbe Disease Task Force to redefine who is at risk for late onset KD; the new definition of which patients are truly at risk should reduce the number of infants with possible late onset KD by at least a factor of three. This work will provide the foundation for a successful nomination of Krabbe disease to the RUSP. To learn more about Joseph Orsini, visit his laboratory (linked below) or feel free to reach out to him by email at firstname.lastname@example.org.Click here to find out more
Geovanny Perez, MD | Pulmonologist
Dr. Perez is currently a full time attending physician in the Division of Pulmonary and Sleep Medicine at Oishei Children’s Hospital (OCH) and Associate Professor of Pediatrics at Jacobs of School of Medicine and Biomedical Sciences/University at Buffalo. He also completed the Master in Clinical Translational Research program at the George Washington University. Dr. Perez clinical expertise involve the management of children with severe bronchopulmonary dysplasia (BPD), neuromuscular disease and those requiring respirator support including home mechanical ventilation. His research interests include severe BPD, respiratory airway epithelial immunity, the respiratory microbiome and the pathophysiology of viral-induced wheezing.Click here to find out more
Margie Ream, MD, PhD | Pediatric Neurologist
Margie Ream, MD, PhD, earned graduate degrees from Duke University. She is currently an Assistant Professor and Residency Program Director at Nationwide Children’s Hospital in Columbus, OH. She serves on the Ohio Newborn Screening Advisory Council and as a consultant for the Health Resources and Services Administration regarding outcomes of newborn screening for conditions recently added to the Recommended Universal Screening Panel. She also serves on several Hunter’s Hope workgroups including the Krabbe NBS Council, the EIKD NBS Case Study Workgroup, and the LOKD NBS Guidelines Workgroup.
Molly Regelmann, MD | Endocrinologist
Molly Regelmann, MD is an Assistant Professor of Pediatrics in the Division of Pediatric Endocrinology and Diabetes at the Children’s Hospital at Montefiore. Dr. Regelmann graduated magna cum laude from Cornell University with a degree in Biological Sciences. She received her medical education at New York University School of Medicine and completed general pediatric residency training and pediatric endocrinology fellowship training at the Icahn School of Medicine at Mount Sinai. Currently, she is the Pediatric Endocrinology Fellowship Program Director at the Children’s Hospital at Montefiore and works as a general clinical pediatric endocrinologist with a particular interest in adrenal insufficiency. She is a member of the Pediatric Endocrine Society’s Drug & Therapeutics and Rare Disorders Committee and has been a leader in the development of screening guidelines for adrenal insufficiency in newborn boys diagnosed with adrenoleukodystrophy. Dr. Regelmann has published review articles and case reports of boys with adrenoleukodystrophy and regularly speaks to healthcare and patient advocacy groups about the endocrine concerns associated with adrenoleukodystrophy.
Jullie Rhee, NP | Acute Care Pediatric Nurse Practitioner
Jullie Rhee is an Acute Care Pediatric Nurse Practitioner and the LCN care coordinator for Children’s National Hospital in Washington, DC. She trained at the University of Maryland and her primary role is within the Myelin Disorders Program. In addition to her role as clinician and care coordinator for patients with leukodystrophies, she highly involved in research studies and perform clinical procedures within the department of Neurology. She is the Advanced Practice Provider Team Lead within the Department of Neurology and the Co-Director of Ambulatory services in Neurosciences clinic. In these roles, she coordinates work related activities for clinicians in the Neurology clinic.
Gary Romano, M.D., Ph.D | Chief Medical Officer, Passage Bio
Gary Romano, M.D., Ph.D., has served as Passage Bio’s Chief Medical Officer since September 2019. Prior to that, Dr. Romano worked at Janssen Global Services, LLC, a pharmaceutical company, where he served as Head of Development, Alzheimer’s Disease / Neurology from May 2013 to September 2019 and as Head, Neuroscience Biomarkers from 2009 to 2013. Prior to Janssen, Dr. Romano served in various senior leadership roles at Johnson & Johnson, a healthcare company, and Merck & Co., Inc, a global biopharmaceutical company. Dr. Romano has held an adjunct clinical faculty position in the Department of Neurology at the Lewis Katz School of Medicine at Temple University since January 2017. Dr. Romano received a B.S. in Biology from Trinity College, a Ph.D. in Molecular Neuroscience from Rockefeller University and an M.D. from Johns Hopkin’s School of Medicine, and he completed his post-graduate training in Neurology at the University of Pennsylvania.
Jennifer P. Rubin, MD | Neurologist
Jennifer P. Rubin is an attending neurologist at the Ann & Robert H. Lurie Children’s Hospital of Chicago, and an Assistant Professor of Pediatrics in the Neurology Division, Northwestern University Feinberg School of Medicine. She is the co-director of Lurie’s 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. She also has specialized training and interest in acquired demyelinating diseases (multiple sclerosis, transverse myelitis, neuromyelitis optica). Additionally, Dr. Rubin serves as the chairperson of Lurie Children’s Hospital’s Institutional Review Board (IRB).Click here to find out more
Maura RZ Ruzhnikov, MD, FACMG | Pediatric Neurologist and Medical Geneticist
Miriam Schachter, PhD | NJ NBS Laboratory
Miriam Schachter received her PhD in Biomedical Sciences from The Icahn School of Medicine at Mount Sinai in New York City. She then joined the New Jersey Newborn Screening Laboratory where she was the Ronald H. Laessig Memorial Newborn Screening Fellow, a postdoctoral fellowship supported by the Association for Public Health Laboratories (APHL) and the Centers for Disease Control and Prevention (CDC). She worked on expanding the molecular testing capabilities of the lab and on general quality improvement projects. When the fellowship ended, Miriam took on the role of Lead Molecular Biologist in the NJ NBS Lab. She is responsible for the research and development and validation of molecular tests, including the sequencing assay currently used as a second tier test for Krabbe Disease.
Kimberly N. Seals, MSPH, MPA | Director, Bureau of Maternal and Child Health, SC Department of Health and Environmental Control
Ms. Kimberly Seals is the Director of the Bureau of Maternal and Child Health with the South Carolina Department of Health and Environmental Control. As Director, Ms. Seals, oversees activities within the Divisions of Children’s Health and Perinatal Services, Women’s Health, and the Division of Children’s and Youth with Special Healthcare Needs. Prior to relocating to South Carolina, Ms. Seals, was the Maternal and Child Health Director for the March of Dimes Alabama office. In this role Ms. Seals led the state’s programmatic and mission related activities of giving every baby a fighting chance. One of Ms. Seals largest initiatives was to launch and implement Healthy Babies are Worth the Wait in Alabama as well as Texas,
where she got her start with the organization. Her work in the nonprofit sector also
involved several statewide initiatives such as “Go Before You Show” which focused on increasing early entry prenatal care. She led several 17P educational initiatives for providers and women to prevent subsequent preterm births and collaborated with Medicaid Managed Care Organizations around the U.S. to promote positive maternal health outcomes. Ms. Seals also served as a Public Health Advisor for the Centers for Disease Control and Prevention in Atlanta, Georgia in the Division of Global Migration and Quarantine. As a field assignee for the Galveston County Health District she worked as an Epidemiologist, managed breast and cervical cancer programs and investigated communicable diseases outbreaks.
Kimberly received her Master of Public Administration degree from Texas Southern University and her Master of Public Health degree from Meharry Medical College. She completed her undergraduate work from University of Alabama at Birmingham, with a bachelor’s degree in biology. Ms. Seals participates on several committees across the state of South Carolina and is passionate about racial/ethnic disparities research and evidenced-based programs.
Elisa Seeger | Aidan Jack Seeger Foundation/ALD Alliance
After losing her son, Aidan to ALD in 2012 at the age of 7, Elisa started this foundation in his honor with the primary goal of having ALD Newborn Screening passed in every state. New York became the first state to start screening for ALD with the addition of “Aidan’s Law” in 2013. Since then, Elisa has worked to help other states add ALD by traveling across the country to speak at newborn screening committee meetings. Elisa had federal bills introduced in 2016 which would mandate newborn screening for ALD nationally. This is still a work in progress and as of 2020 has changed this directive to include all diseases added to the the federal recommended uniform screening panel. In addition, the foundation hosts an annual ALD Standards of Care meeting every January, has created and ALD Parent’s Guide with the help of clinicians and parents in the community. This past January we have decided to change our name to ALD Alliance to welcome other families to join our efforts in helping to change the course of ALD.Click here to find out more
Natasha Spencer | Family Advocate
Natasha Spencer is a Parent Advocate, Consumer Representative, and mother to Kenan Witczak, 2/5/2011 – 5/31/2018, Krabbe Leukodystrophy. Natasha has been a member of the Krabbe community since Kenan’s symptomatic diagnosis in 2011. She has volunteered with Partners for Krabbe Research in conjunction with the Program for the Study of Neurodevelopment in Rare Disorders at UPMC Children’s Hospital of Pittsburgh to establish a biorepository specific for Krabbe Leukodystrophy research. From 2015-2018, she was a Consumer Representative on the Illinois Department of Public Health’s Lysosomal Storage Disorders Subcommittee. In 2017, her family was featured in an eight-story Chicago Tribune series that lead to a legislative hearing ending Illinois’s 10-year delay in implementing KD-NBS. She recently co-authored an article, Family Attitudes Regarding NBS for KD, that is pending publication.
Robert Thompson-Stone, MD | Pediatric Neurologist
Dr. 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. He went to medical school at New York University School of Medicine, where he graduated with honors (Alpha Omega Alpha Honor Society member). He went on to study adult and child neurology at the University of Rochester School of Medicine and Dentistry, and graduated from residency in June 2011. Since then he has been been on faculty at the University of Rochester in the departments of Neurology and Pediatrics.Click here to find out more
Jenna Swan | Associate Director, US Patient Advocacy Orchard Therapeutics
As a young girl, Jenna Swan observed her grandparents living with her Grandmother’s diagnosis of Multiple Sclerosis. Due to the neurodegenerative components of her Grandmother’s disease, she was no longer able to do the daily tasks that she once didn’t give a second thought. Her Granddaddy became a caregiver. She watched how this diagnosis changed her whole family’s dynamic.
Witnessing their experience and reimagining how it could have been improved, eventually lead Jenna to her career as a Patient Advocate. Jenna is passionate about better outcomes and support for families living with a life-altering medical diagnosis.
In 2014, Jenna started in Patient Advocacy, serving the rare disease community. She abides by a listen first, understand, then act approach to her work. In her current role at Orchard Therapeutics, Ms. Swan is lead point of contact for the Company’s US presence to build and maintain collaborative relationships with foundations, nonprofits and patient advocacy groups. She serves as the patient “voice” in strategy meetings and patient-facing programs across the Company’s gene therapy pipeline. She’s most proud of the work done in partnerships with organizations that has accomplished what she set out to do in an advocacy role; created better quality of life for families.
Christin Webb | Family Advocate
Christin Webb is a 5th grade math and science teacher and basketball coach from Powell, Tennessee. She is the mother of Mabry Kate and Owen Webb, both diagnosed with Krabbe Leukodystrophy. Mabry Kate was born March 13, 2014 and passed away February 7, 2015. Though her life was cut very short, it was one of even greater purpose. Because of Mabry Kate, her little brother, Owen, was tested in utero and screened positive for Krabbe before he was born. Owen was born March 30, 2015 at Duke University Hospital and transplanted April 22, 2015. He is now 5 years old and doing remarkably well. Christin and her husband, along with the May and Measles families, advocated for Krabbe to be added to the Tennessee newborn screening panel. The Mabry Kate Webb Act was officially implemented in Tennessee on July 1, 2017. Christin also serves on the Leukodystrophy Care Network’s Steering Committee. She has also been a part of the LCN’s Treatment workgroup and their efforts to publish Clinical Practice Guidelines of transplant for both medical professionals and families, as well as participating in a work group aiming to publish a piece on the families’ perspectives of the importance of Krabbe newborn screening. Christin is very passionate about helping in any way possible to add Krabbe Disease to the newborn screening panel in every state.
Sainan Wei, MD, PhD | Medical Director, Kentucky NBS Lab
Dr. Wei received her M.D., and M. Sc in Biochemistry from the College of Human Medicine of Wuhan University, China; Ph.D., in Genetics and M. Sc in Epidemiology in the Michigan State University. She completed her Clinical Molecular Genetics and Clinical Cytogenetics training in the Henry Ford Healthy System. Dr. Wei is board certified in both Molecular Genetics and Cytogenetics. She has over 15 years’s experience in clinical experience including laboratory administration, management, operation, new test development, interpretation of chromosomal aberrations, genomic and genetic variation, as well as inborn errors. She has extensive knowledge and experience of CLIA and CAP regulations.
Tara West, NP | Pediatric Nurse Practitioner
Tara West is a Pediatric Nurse Practitioner at Duke University. Tara received her nursing degrees, both BSN and MSN, from the University of Wisconsin-Madison. She has worked with Leukodystrophy patients and families since 2009. Her passion is education, advocacy, and supportive care, especially for those families whose children are not eligible for any treatment after diagnosis. Tara looks forward to the Hunter’s Hope Symposium every year. In addition to hearing from many of the top experts in the field, it provides an opportunity to meet new families and reconnect with a lot families who have allowed her to be part of their child’s care team over the years.
Brian Wishart, MD | Physiatrist
Dr. Wishart is a pediatric physical medicine and rehabilitation (PM&R) specialist or physiatrist. He is an instructor of PM&R at Harvard Medical School and works at MassGeneral Hospital for Children and Spaulding Rehabilitation Hospital focusing on children with special needs. He completed a dual residency in pediatrics and PM&R at Thomas Jefferson University and A.I. duPont Hospital for Children and has taken a focus on children with progressive neurologic disease.Click here to find out more