Learn more about the 2022 Medical Symposium Speakers.


Samiah Al-Zaidy, MD |VP of Clinical Development, Passage Bio

Dr. Samiah Al-Zaidy is VP of Clinical Development at Passage Bio, where she is leading the current Phase ½ gene transfer trial of PBKR03 in early-infantile Krabbe disease, GALax-C study as well as the overall development of the Krabbe program.

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

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

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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).

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M. Christine Dorley, PhD | Assistant Director, NBS Laboratory TN DOH

M. Christine Dorley, PhD, currently serves as the Assistant Director of the Newborn Screening Laboratory for the Tennessee Department of Health, Division of Laboratory Services. She has been with the Division of Laboratory Services for close to 27 years serving in different capacities.

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Maria Escolar, MD, MS | Professor of Pediatrics

Dr. Maria Escolar is a Professor of Pediatrics at the University of Pittsburgh and Founder & Director of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at UPMC Children’s Hospital of Pittsburgh.

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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

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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.

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.

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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

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. 

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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.

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.   

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.

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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.

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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.

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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.

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Amy Ponte, PhD | Director, Diagnostic Laboratory Services, Travere Therapeutics

Dr. Amy Ponte is currently the Director of Diagnostic Laboratory Services at Travere Therapeutics. In this role, Dr. Ponte is the scientific lead for all diagnostic testing programs and patient finding strategies for Travere’s commercial and pipeline products in rare metabolic and nephrology diseases.

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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. 

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Maura RZ Ruzhnikov, MD, FACMG | Pediatric Neurologist and Medical Geneticist

Maura Ruzhnikov is pediatric neurologist and medical geneticist who specializes in the diagnosis and management of rare neurologic disorders. She is particularly interested in shortening the diagnostic odyssey and participating in natural history studies and clinical trials. 

Darrin Sevier | Kentucky NBS Program

Darrin Sevier is the supervisor of the Molecular and Biomedical Engineering section of the Kentucky Newborn Screening laboratory.  He has worked in the Kentucky Newborn Screening laboratory for 21 years.

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.

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

Angela Tom is the Director, US Medical Affairs at Orchard Therapeutics.  In this role, she has accountability for the US medical affairs strategy to respond to the educational and informational needs of US providers, patient advocacy groups and payers. 

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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.