2023 Medical Symposium Speaker Directory

Joshua Baker, DO | Medical Biochemical Geneticist

Joshua Baker, DO is a Medical Biochemical Geneticist at Ann & Robert H Lurie Children’s Hospital of Chicago. Director of Inborn Errors of Metabolism in the Division of Genetics, Genomics and Metabolism. Associate Program Director of the Leukodystrophy program. Special research interest and clinical trials on newborn screening detection, management, and treatment of Lysosomal storage disorders; including Krabbe disease.

Catie 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.

Beth Bair, MS | Chemistry Division Director, South Carolina Department of Health

Beth Bair, MS currently works for the South Carolina Department of Health and Environmental Control (SC DHEC)
Public Health Laboratory (PHL) in Columbia, South Carolina, as the Chemistry Division Director. She manages
the operations and strategic planning for two public health programs within the PHL: Newborn
Screening and Analytical Chemistry. Ms. Bair began her career in 2004 as a chemist and supervisor of the
analytical chemistry section at the SC PHL but later went to the University of South Carolina (USC) where
she managed a mass spectrometry lab for 10 years. Ms. Bair earned a M.S. degree in geochemistry from Georgia
Tech in 2003 and B.S. degrees in chemistry and geology from New Mexico Tech in 2001. She is currently
working on a Ph.D. in environmental health sciences (public health) at USC.  She lives in Blythewood, South
Carolina, with her husband of 16 years, Ben, and their 3 children, Winona, Sam, and Gus.

Joshua L. Bonkowsky, MD, PhD | Chief of the Division of Pediatric Neurology

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.

Patricia Edge, RN | Metabolic Program Coordinator, PA Department of Health

Patricia (Pat) Edge is a registered nurse with over 30 years’ experience. Ms. Edge has devoted the bulk of her career to acute inpatient settings, spending the last 17 years serving in a leadership capacity.

Maria Escolar, MD, MS | Chief Medical Officer at Forge Biologics

Dr. Maria Escolar is Chief Medical Officer at Forge Biologics, a Professor of Pediatrics at the University of Pittsburgh, and Founder of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at UPMC Children’s Hospital of Pittsburgh. She has more than 25 years of experience as a practicing clinician and researcher and is internationally known for her work in neurodevelopment of children with leukodystrophies, mucopolysaccharidosis and other genetic neurodegenerative conditions. Dr. Escolar has authored more than 80 manuscripts, including two original research articles in the New England Journal of Medicine. Her research focuses on behavioral and neuroimaging outcomes of lysosomal storage disorders and prospective natural history studies of other rare neurological diseases. She is also recognized for the development of a novel automated neuroimaging tool to quantitate white matter changes in children affected by these disorders. Dr. Escolar is a graduate of the Escuela Colombiana de Medicina, in Bogota, Colombia. She has a Master of Science in Human Nutrition from Columbia University, and completed a residency in Pediatrics and a Fellowship in Developmental and Behavioral Pediatrics at Cornell University Medical Center. She is a leader in clinical trials design for rare diseases and has extensive experience as PI in seven gene therapy trials with different types of administration and multiple small molecule and enzyme replacement clinical trial approaches. Most recently, she has led the development of a novel therapy for Krabbe disease, a combination treatment of umbilical cord blood transplantation and adeno-associated virus gene therapy. Forge Biologics Inc. has licensed the therapy from the University of Pittsburgh and advanced it to a Phase I/II clinical trial.

Sally Evans, MD | Chief, Rehabilitation Medicine

Dr. Evans is a Professor of Clinical Pediatrics and Physical Medicine and Rehabilitation at the Perelman School of Medicine at the University of Pennsylvania.  In  her role as the Chief of the Division of Rehabilitation in the Department of Pediatrics at the Children’s Hospital of Philadelphia, she is responsible for the oversight of the 23-bed inpatient rehabilitation unit at CHOP as well as the consultation services for children in the inpatient and outpatient arenas on all the campuses of the Children’s Hospital of Philadelphia. She is the medical director for the Departments of Physical and Occupational Therapy

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 a professor of neurology and pediatrics at Johns Hopkins University.

Michael 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.

Stephanie Keller, MD | Pediatric Neurologist

Joanne Kurtzberg, MD | Jerome Harris Distinguished Professor of Pediatrics

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 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. 

Austin Larson, MD | Pediatrician, Geneticist

Dr. Larson is board certified in pediatrics, medical genetics and biochemical genetics. He practices at Children’s Hospital Colorado and is on the faculty at the University of Colorado School of Medicine. He is the director of the medical genetics residency program in Colorado. His interests include promoting early and accurate diagnosis of rare genetic conditions and participating in clinical trials for treatment of rare disorders.

Deitrich Matern, MD, PhD | Director, Biochemical Genetics Laboratory at 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.

Gwendolyn McKee, MBA/HCM, BS, MT | NBS Lab Manager

Gwendolyn McKee is the Newborn Screening MSMS/2 nd Tier/ Data Entry Lab Manager for the Tennessee Dept. of Health. She has over 30 years of lab experience. She has been with Tennessee Dept. of Health Laboratory for 12 years. She manages the section that screens for Amino Acid, Acylcarnitine’s, Lysosomal Storage disorders, 2 nd Tier testing (X-ALD, HCY/MMA/MCA) and Accessioning /Data Entry. In 2015 she became the MSMS Supervisor and 2 years later the Manager over MSMS. She received a bachelor’s degree in Chemistry and Medical Technology from Tennessee State University and an MBA/HCM from the University of Phoenix.

Andreas Meier, MD | SVP, Clinical and Medical Sciences

Andreas Meier graduated in medicine and completed his doctoral thesis at the University of Göttingen, Germany. At the same institution he also completed his residency in the areas of psychiatry, neurology, and sleep medicine.

Amanda Nagy, MD | Pediatric Neurologist

Dr. Nagy is an Instructor of Neurology at Massachusetts General Hospital (MGH), Harvard Medical School. She completed her residency in Pediatric Neurology at MGH followed by a fellowship in Neurogenetics and Gene Therapy at Mass General Brigham. She joined the MGH Leukodystrophy clinic in 2021, where she has the privilege of working with a multidisciplinary team to advance the care of children and adults with leukodystrophy. She is an investigator on multiple ongoing clinical trials in the leukodystrophies.

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.

Geovanny Perez, MD | Pulmonologist

Dr. Perez is currently serving as the Chief of the Division of Pulmonary and Sleep Medicine at Oishei Children’s Hospital (OCH) and holds the position of Associate Professor of Pediatrics at Jacobs School of Medicine and Biomedical Sciences, affiliated with the University at Buffalo.

In addition, Dr. Perez has completed the Master in Clinical Translational Research program at the George Washington University. This further enhances his expertise in bridging the gap between clinical practice and scientific research.

Dr. Perez’s clinical proficiency lies in managing children with severe bronchopulmonary dysplasia (BPD) and those affected by neuromuscular diseases. He also specializes in caring for patients with complex respiratory disorders, including those requiring home ventilator support. Whether the need calls for invasive or non-invasive interventions, Dr. Perez is well-versed in providing comprehensive care for these individuals.

With his extensive knowledge and experience, Dr. Perez is dedicated to advancing the field of pediatric pulmonary and sleep medicine. His leadership as the Chief of the Division of Pulmonary and Sleep Medicine at Oishei Children’s Hospital and his academic role as an Associate Professor position him at the forefront of medical education and patient care.

Through his clinical expertise and ongoing research endeavors, Dr. Perez strives to improve the lives of children with respiratory disorders, making significant contributions to the field and ensuring the best possible outcomes for his patients.

Margie Ream, MD, PhD | Pediatric Neurologist

Margie Ream, MD, PhD, 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 | Child Neurologist

Dr. 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.

Caitlin Russo, MS | Research Scientist

Caitlin Russo is a Research Scientist within the Newborn Screening Laboratory at the New Jersey State Department of Health. She earned her MS in Biotechnology from Thomas Jefferson University in Philadelphia, Pennsylvania. After graduating, she worked as an Endocrinology Research Technician in the Reproductive Endocrinology Lab at Walt Disney World’s Animal Kingdom in Orlando, Florida, focusing on the conservation of endangered species. In 2015, she started working in the New Jersey Newborn Screening Lab and developed a passion for Newborn Screening. She is currently responsible for overseeing the implementation of new disorders in the laboratory. She has validated and established the screening of Lysosomal Storage Disorders, Spinal Muscular Atrophy (SMA), and the Cystic Fibrosis 139 Variant Panel in New Jersey.

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.

Angela Tom, MS, FNP-C | Senior Director, Medical Affairs- Americas at Orchard Therapeutics

Angela Tom is the Senior Director, Medical Affairs- Americas at Orchard Therapeutics. In this role, she has accountability for the medical affairs strategy, customer engagement, and launch readiness across the Americas.  She has a passion for bringing innovative therapies to people in need. Prior to starting her career in Biotech, Angela was the Nurse Practitioner for Pediatric Bone Marrow Transplant then Hemophilia Nurse Practitioner at the University of Arizona.

Her Biotech career began in Field Medical at Biogen (subsequently Bioverativ then Sanofi-Genzyme) helping to launch two first in class extended half-life factor therapies for Hemophilia. She joined Orchard Therapeutics in 2020 to build the US Medical Affairs team in anticipation of launching the first autologous hematopoietic stem cell gene therapy for Metachromatic Leukodystrophy (an ultrarare pediatric neurometabolic disease that is fatal). Angela received her BSN and MS in Nursing from the University of Arizona. She lives in Tucson, Arizona where she enjoys travel, camping, desert hikes, local music and UofA Basketball.

Jennifer Weaver | Indiana Newborn Screening Program Manager

Jennifer is Indiana’s Newborn Screening Program Manager and a current MPH student. Jennifer has dedicated the past five years to improving the health of Hoosiers through advancing newborn screening education and quality across the state. She currently oversees the activities and functions of Indiana’s internal newborn screening program staff, contracted Newborn Screening Laboratory and multiple sub-specialty care coordination grantees. Jennifer has also contributed to the planning, development and implementation quality improvement activities and the implementation of a newborn screening condition nomination and evaluation process that has since been passed through Indiana legislation. As NBS Program Manager, Jennifer aims to increase accessible screening, diagnostic and treatment services for all Hoosiers; an overarching goal of the universal newborn screening system.