2025 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.

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.

Dr. Mei Baker, MD, FACMG | Director, Newborn Screening Laboratory; Professor, Department of Pediatrics

Dr. Mei Baker is a professor in the Department of Pediatrics, and Director of the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health. Dr. Baker practiced medicine before being trained in both biochemical and molecular genetics, obtaining a clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has 20 years of experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and improve ongoing screening tests. She is one of the leading scientists who made Wisconsin the first state in the nation and the world to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. She has developed and implemented cystic fibrosis NBS using next generation sequencing technology in the Wisconsin NBS program. She also implemented the NBS for spinal muscular atrophy in Wisconsin with the unique approach of incorporating additional SMN2 copy number assessment. Dr. Baker served as a member of the Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children from 2016 to 2021. She has recently been appointed to serve on the National Academies’ committee of Newborn Screening: Current Landscape and Future Directions.

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.

Tracey Bishop, MS | CA NBS Program

Tracey Bishop was born and raised in New Jersey but headed to Washington, DC for her undergraduate degree in biology and graduate work in genetics and genetic counseling.

In 2000 she headed west to California for a job with the Department of Public Health
Newborn Screening Program. She has had many roles with the program, but most of
her time has been spent as liaison with the special care centers throughout the state
who provide follow-up and treatment for those found to be screen positive with newborn
screening. Currently Ms. Bishop has been busy with the additions of new disorders to
the California panel and enhancing the development of a new Program database.
When not working, she enjoys the culture and beauty of the bay area.

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.

Allison Bradbury, MS PhD | Associate Professor, OH State University

Dr. Allison M. Bradbury is an Associate Professor with Tenure in the Department of Pediatrics at The Ohio State University and Principal Investigator in the Center for Gene Therapy at Nationwide Children’s Hospital. She leads a R01-funded translational laboratory with the goal of improving the understanding of disease mechanisms resulting in rare pediatric neurologic disorders to develop safe and efficacious targeted gene therapy approaches.

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.

Taraka Donti, PhD | CLIA Laboratory Director

Dr. Taraka Donti is the CLIA Laboratory Director and Director of Laboratory Services at Revvity Omics Laboratory in Pittsburgh, PA. Dr. Donti is involved in several aspects of laboratory operations and in charge of the R&D group at Pittsburgh. He received a Ph.D. from Texas A&M University in Biochemistry. He completed post-doctoral studies at Baylor College of Medicine and is ABMGG board certified in Clinical Biochemical Genetics. Metabolomics, mitochondrial biology and translational research are his areas of interest.

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.

Rana Dutta, PhD | Sr. Director of Scientific Affairs at Mirum Pharmaceuticals

Dr. Rana Dutta, Sr. Director of Scientific Affairs at Mirum Pharmaceuticals, leads the Bile Acid Synthesis Disorder program focusing on rare diseases like CTX, SLOS, PBD-ZSD, and other BASDs. With a Ph.D. in Genetics from West Virginia University School of Medicine and a Postdoctoral Fellowship from Johns Hopkins School of Medicine in Genetics, Oncology, Virology, and Immunology, Dr. Dutta completed preceptorships at Mt. Sinai School of Medicine, Oxford University, and Birmingham Children’s Hospital in the United Kingdom. Dr. Dutta’s expertise lies in disorders of lipid metabolism, including rare and ultrarare genetic and metabolic conditions. His 15+ years of experience in rare and ultra-rare diseases has led to numerous publications, solidifying his impact in the field.

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.

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.

Zac Leeker, MS | KS NBS Program Manager

Zac Leeker currently works for the Kansas Department of Health and Environment (KDHE) in Topeka, KS as the Newborn Screening Program Manager. Zac received his Master’s degree in Healthcare Administration from Wichita State University. Zac has been working for KDHE in rare disease and newborn screening follow up since 2022. Prior to that, Zac and his family’s introduction to newborn screening advocacy started in 2000 when his brother, Trevor Leeker, was diagnosed with Krabbe Disease. Serving in various capacities in over the last 25 years in newborn screening advocacy for Kansas and the larger Midwest region, the Leeker family has pushed to increase the Kansas Uniform Screening Panel from 3 conditions to 37. Most recently, an approved pilot screening for Krabbe Disease to begin in August of 2025.

Barb Lesko | Lab Manager, Indiana Newborn Screening Laboratory

Barb Lesko currently serves as the lab manager for the Indiana Newborn Screening Laboratory. After graduating from Indiana University with a BS in Medical Technology, she worked in the Newborn Screening laboratory during the pilot year of the program. After that year, she spent the next few years in school and working with the department’s marketing team trying to expand their outreach program.

She eventually made her way back to Newborn Screening, where she has spent the last 30+ years in her current role as the Laboratory Manager. She feels honored to have been a part of a program that has seen so much expansion and has been integral in helping save and improve the lives of so many Indiana babies.

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.

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.

Jamie Mills, MLS(ASCP) | Tandem Mass Spectrometry Supervisor, NC State Laboratory of Public Health

Jamie Mills, MLS(ASCP), serves as the Tandem Mass Spectrometry (MS/MS) Supervisor at the North Carolina State Laboratory of Public Health (NCSLPH), where she oversees newborn screening efforts focused on early detection of rare disorders through MS/MS methods. Since joining NCSLPH in 2020, Jamie has helped expand the NC NBS screening panel to include X-linked adrenoleukodystrophy (XALD), mucopolysaccharidosis type I (MPS I), and Pompe disease. She is currently leading the implementation of screening for Krabbe disease, MPS II, and guanidinoacetate methyltransferase deficiency (GAMT).

With over 15 years of clinical laboratory experience, Jamie is deeply committed to helping newborns with rare diseases like Krabbe get the best possible start through early detection and timely intervention.

Amanda Nagy, MD | Instructor in Neurology, Massachusetts General Hospital

Prakash Paudyal, PhD | Lab Scientist-Supervisor, MD NBS Laboratory

Dr. Prakash Paudyal is a Public Health Laboratory Scientist-Supervisor for Lysosomal Storage Disorders (LSDs) screening unit at Maryland Newborn Screening (MDNBS) laboratory. He has been working in MDNBS laboratory for the last 9 years. He was instrumental in the implementation of several disorders screening at MDNBS laboratory including LSDs, XALD, CF and SCID/SMA. He is currently working towards the implementation of Krabbe Disease screening and is exploring the feasibility of a shorter incubation assay for the Krabbe and other lysosomal disorders screening at MDNBS laboratory so that the majority of specimens could be reported the same day they are received.

Lachelle Purnell-Savoy, FNP | Kennedy Krieger Institute

Lachelle Purnell-Savoy is a compassionate and dedicated Family Nurse Practitioner with a strong commitment to education and helping others. Her academic journey began with an Associate Degree from Baltimore City Community College (BCCC) in 2016 followed by a Bachelor of Science in Nursing (BSN) in 2018. Demonstrating a continuous pursuit of advanced knowledge, she earned her Master of Science in Nursing (MSN) as a Family Nurse Practitioner in 2021.

Lachelle’s clinical career commenced at Johns Hopkins Hospital, where she served as a Medical-Surgical Registered Nurse for five years, gaining invaluable experience. Upon becoming a Nurse Practitioner, she transitioned to Johns Hopkins University, initially specializing in inpatient diabetes management. Currently, Lachelle applies her expertise to a unique and challenging field, caring for individuals with rare genetic conditions and research at Kennedy Krieger Institute.

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.

Deepa S Rajan, MD | Director, UPMC Children’s Center for NeuroGenomics

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.[/expander_maker]

Miriam Schachter, Ph.D. | New Jersey Newborn Screening Program

Dr. Miriam Schachter received her Ph.D. in Biomedical Sciences from The Icahn School of Medicine at Mount Sinai in New York City, where she researched cell cycle checkpoints in cancer cells. After a brief post doc at Mount Sinai, she joined the New Jersey Newborn Screening Laboratory in 2015 as 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 NBS Lab and on lab processes quality improvement projects.

After the fellowship, Miriam was hired as a Research Scientist 3 by the New Jersey Department of Health. She took on the role of Lead Molecular Biologist in the NJ NBS Lab, where she was responsible for the research and development and validation of molecular tests. In 2020, Miriam became the Program Manager of the NJ NBS Laboratory, where she now oversees a staff of 35 people and ensures that the approximately 100,000 babies born in Jew Jersey each year get tested for the 61 disorders currently on the state panel.

Darrin Sevier | KY Public Health Laboratory Scientist Supervisor

Darrin Sevier is the Public Health Laboratory Scientist Supervisor for the Molecular Chemistry section of the Kentucky Newborn Screening laboratory.  He has worked in the Kentucky Newborn Screening laboratory for 24 years.

Nicolas Szabo-Fresnais, PhD | Utah Newborn Screening Program

Dr. Nicolas Szabo-Fresnais is the NBS Chief Scientist at the Utah Department of Health and Human Services. After obtaining his PhD in Biochemistry from France, he traveled oversea to pursue a biochemist career at the University of Utah. In 2020 he joined the Utah NBS Laboratory where he developed and implemented a new laboratory developed test using only one DBS punch for the screenings of X-linked adrenoleukodystrophy, Pompe Disease and MPS-I.

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.

Angela Tom, MS | Sr. Director Medical Affairs, Orchard Therapeutics

Angela Tom is a Medical Affairs Director with 12 years of experience, and is deeply committed to advancing the care and treatment of patients with rare diseases. Her mission is to bridge the gap between groundbreaking science and patient-centered care, focusing on the urgent need for innovative therapies in this critical area of healthcare.

Ms. Tom’s passion for rare diseases is deeply personal, fueled by her family’s experience with Friedreich’s Ataxia. This connection strengthens her resolve to:
Advocate for greater awareness of rare diseases
Drive progress in diagnostics and treatment options
Ensure the patient perspective remains central to every step of medical advancement

In a field that demands speed, creativity, and compassion, she is dedicated to leveraging her expertise in pediatric rare diseases to deliver life-changing solutions. Ms. Tom’s goal is to make a lasting impact on the lives of patients and families, inspired by their resilience and the urgent need for transformative therapies.

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.

Angela Wittenauer MSN, FNP-C, RN | Director, GA NBS Follow Up

Angela Wittenauer, MSN, FNP-C, RN is a nurse practitioner at Emory University in Atlanta, Georgia. Since 2009 she has served as the Director of Newborn Screening Follow Up for the state of Georgia. In this role, she leads a team of healthcare professionals to ensure Georgia’s babies get the testing and clinical care they need when identified as having one of these rare diseases. She has also led several NICHD funded pilot projects to evaluate new conditions for newborn screening panels. Additionally, she engages with the metabolic community as a nurse practitioner in Emory’s Metabolic Genetics Clinic. She loves teaching patients about inborn errors of metabolism and how to live their best lives with these diagnoses.