2022 Medical Symposium Speaker Directory

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.

During this period, she earned her master’s degree in Nursing from the University of Arizona.  Ms. Alexander joined the Commonwealth of Pennsylvania as a Nursing Services Consultant with the Department of Health, Division of Newborn Screening and Genetics in 2020, and currently serves as the Metabolic Program Coordinator.  She is responsible for coordination with birthing submitters and laboratory partners in the implementation of the Pennsylvania Newborn Screening Program.

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.

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.

Clinically, Dr. Evans practices as a pediatric physiatrist, addressing functional deficits in children that result from physical impairments. She is an expert in the management of hypertonia in children. Currently, she serves as the pediatric physiatrist in the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia, where she has practiced since 2019.  Prior to that, she treated patients with leukodystrophies as part of the interdisciplinary management team in the Myelin Disorders Clinic at Children’s National Medical Center in Washington, DC.

Dr. Evans is honored to be part of the Leukodystrophy Care Network and the Global Leukodystrophy Initiative.

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).

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.

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 170 peer-reviewed publications and 20 textbook chapters. Since 2005, Dr. Matern has been a member and chair (2020-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).

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.

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.

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.

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.

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.

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.

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.