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.

She is a pediatric neurologist with a background in neuromuscular disorders and clinical gene therapy.  Dr. Al-Zaidy’s was formerly a principal investigator at the Center for Gene Therapy at Nationwide Children’s Hospital, where she co-led numerous AAV gene transfer studies of various methodology. She was one of the lead investigators in the clinical development of the Phase 1 and 3 gene transfer trials in spinal muscular atrophy that has led to the FDA approval of Zolgensma. Dr. Al-Zaidy also co-led the clinical development of several other AAV mediated gene therapy clinical trials that have been licensed to industry including the intravenous AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy licensed to Sarepta as well as the CLN6 Batten’s intrathecal program that is currently licensed to Amicus.  In her capacity as a consultant for Novartis Gene Therapies, she played a key role in the clinical development of their Phase 1 intrathecal studies and later the launch of Zolgensma in both the US and around the world. She has also supported other early-stage AAV biotech companies for their R&D and Clinical development programs

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.

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. Dr. Dorley became involved with Newborn Screening in 2004 temporarily overseeing the area in the absence of the lab manager and during a critical period in which screening for inborn errors of metabolism by Tandem Mass Spectrometry was added to the Tennessee panel. Soon, Newborn Screening became her passion, so she permanently moved to the section in 2007. Since then, Dr. Dorley has been instrumental in migrating the Newborn Screening laboratory to a seven-day workweek with a significant decrease in turnaround time for reporting results. Under her leadership, the laboratory has quickly adopted and implemented screening tests to match the core disorders on the Recommended Uniform Screening Panel (RUSP) for the United States and other non-RUSP disorders to include Fabry, Gaucher, and Krabbe. She is a member of the Association of Public Health Laboratories and serves on several committees including the NewSteps steering committee and the Hemoglobinopathies laboratory workgroup. She has also served on several document development committees for the Clinical & Laboratory Standards Institute.

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. She has more than 20 years of experience as a practicing clinician and researcher and is internationally known for her work in neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Dr. Escolar has authored more than 80 manuscripts, including two New England Journal of Medicine articles. Her research focuses on behavioral and neuroimaging outcome measurements and natural history of rare neurological diseases. Dr. Escolar is a graduate of the Escuela Colombiana de Medicina, has a Master of Science in human nutrition from Columbia University and completed a residency in general pediatrics and fellowship in child development and behavior at Cornell University Medical Center. She is board-certified in pediatric neurodevelopmental disorders and has been the lead investigator on multiple gene therapy clinical trials.

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. 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).

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.  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.

 

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 include clinical trials investigating the safety and efficacy of autologous and allogeneic cord blood in children with neonatal brain injury – hypoxic ischemic encephalopathy (HIE), cerebral palsy (CP), and autism. Clinical trials testing allogeneic cord blood are also being conducted in adults with acute ischemic stroke. Clinical trials optimizing manufacturing and testing the safety and efficacy of cord tissue MSCs in children with autism, CP and HIE and adults with COVID-lung disease are underway. DUOC, given intrathecally, is under study in children with leukodystrophies and adults with primary progressive multiple sclerosis.

 

In the past, Dr. Kurtzberg has developed novel chemotherapeutic drugs for acute leukemias, assays enumerating ALDH bright cells to predict cord blood unit potency, methods of cord blood expansion, potency assays for targeted cell and tissue based therapies. Dr. Kurtzberg currently holds several INDs for investigational clinical trials from the FDA.  She has also trained numerous medical students, residents, clinical and post-doctoral fellows over the course of her career.

 

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. 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).

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. In 2007, Andreas joined the pharmaceutical industry and has since then worked across different phases of clinical development in the therapeutic areas of neuroscience, pain and rare diseases. During this time, he has held roles of increasing responsibilities at companies including GlaxoSmithKline, ABBVIE, Pfizer, Biogen, and Voyager Therapeutics. In his role as SVP, Clinical and Medical Sciences at Vigil, Andreas is hoping to contribute to the development of transformational therapies for severe neurodegenerative 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. 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 joseph.orsini@health.ny.gov.

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.

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. She is also involved in investigation of future strategies for patient identification including newborn screening initiatives, genome sequencing projects, patient advocacy collaborations, and data mining. Dr. Ponte has had a long career inside clinical biochemical and genetic testing labs and has a passion for public health genomics and implementation strategies to connect genetic technologies to the patients and populations that need them. In 2021, Dr. Ponte gathered national stakeholders in rare disease for an inaugural Rare Disease Diagnostics Roundtable to discuss barriers and solutions to decreasing the diagnostic odyssey after newborn screening. The report of this event will be published shortly and a website to collect like-minded thinkers to continue this work will be launched thereafter.

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.  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 and helped develop recommendations for follow up of infants identified as at risk of late onset Krabbe disease.

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. 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.

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.  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. One of her favorite achievements was founding Camp H.U.G. (Hemophilia Uniting Generations) for families to have an opportunity for experiential learning. 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. 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.

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.