2021 GVLS Speaker Directory

Khaja Basheeruddin, PhD│ IL Department of Health

Khaja Basheeruddin is associated with Newborn Screening Section at Illinois Department of Public laboratory at Chicago. He obtained his Ph.D. in biochemistry from the University of London, UK and completed a post-doctoral fellowship at Johns Hopkins School of Medicine in endocrinology and metabolism. Prior to joining IL public health, he worked in Cook County Hospital Chicago as a manager molecular diagnostic division and associate director of point of care testing program.  Dr. Basheeruddin was a member of Institutional Review board of Cook County Bureau of Health. He loves outdoor fun starting from backyard gardening to foreign travel.

Catherine "Catie" Becker | 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.

Manolo Bellotto, PhD | President and General Manager, Gain Therapeutics

Dr. Manolo Bellotto has served as president and general manager of the company and its subsidiary GT Gain Therapeutics SA since 2018. Dr. Bellotto has over 20 years of experience international pharmaceutical product, medical and advocacy development, commercialization, and international research collaborations in major and rare/orphan disease indications across various continents. Since 2013, Dr. Bellotto has served as director of strategic projects at Mederis, a service provider for pharmaceutical, medical device and medical food companies providing assessment, prioritization, planning and management of product development, medical and market-shaping activities. He developed his career as the director of business development at Aptitude Health, a global healthcare company focusing on oncology insights for the life sciences industry. Dr. Bellotto has also previously served as global product leader at Vifor Pharma, a global specialty pharmaceutical company. Dr. Bellotto has held various positions, such as head of international product management and head of marketing, at Helsinn Healthcare, DKSH Healthcare, ESMO – European Society for Medical Oncology, and Chemo SA. Dr. Bellotto received a Ph.D. in Molecular Developmental Genetics from the University of Zurich after having studied molecular biology at the Biocentre of the University of Basel and at the Fredrich Miescher Institute for Biomedical Research in Basel.

William Benko, MD | Neurologist

William S. Benko is a Professor of Neurology and the Director of the Leukodystrophy Clinic in the Division of Pediatric Neurology within the Department of Neurology at the University of California, Davis, in Sacramento. Though he see pediatric patients from birth up until adulthood with conditions related to Developmental Delays, Seizures and Epilepsy, Tic disorders, Headaches and Migraines, he does hold special interest in the rapidly expanding knowledge and management of Neurogenetics, with a special interest in Leukodystrophies. He completed his child neurology residency at Children’s National Medical Center in Washington, DC followed by a clinical research fellowship at the Developmental and Metabolic Neurology Branch of the NIH, in Bethesda, MD.

Josh Bonkowsky, MD, PhD | Pediatric Neurologist

Josh Bonkowsky is a pediatric neurologist specializing in clinical care and research.  He is a professor of Pediatrics at the University of Utah School of Medicine.

After graduating from Harvard College, he spent one year on a Fulbright Fellowship in Vienna, Austria.  He received his MD and PhD degrees from the University of California, San Diego, and completed residency training at the University of Utah (pediatrics), Children’s Hospital of Boston and University of Utah (pediatric neurology). 

A physician-scientist with interests in clinical and bench research, he studies nervous system development and disease. He has been continuously funded by NIH since 2006, including award of the 2012 Director’s New Innovator grant; and his bibliography includes over 90 peer-reviewed articles.

Dr. Bonkowsky is the Division Chief of Pediatric Neurology at Primary Children’s Hospital, and the Director of the Primary Children’s Center for Personalized Medicine. In addition to these duties, he enjoys his more informal roles, such as the summer picnic with taco truck; and, critically, the Annual Cookie Contest. 

Since 2006, Dr. Bonkowsky has personally mentored 60 trainees; including 35 women, and 7 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.

PJ Borandi | General Manager, PerkinElmer Genomics

P.J. joined PerkinElmer in 2008 in IT operations has successfully led the laboratory in Pittsburgh, PA since 2014. During his tenure, he has taken on roles with increasing responsibility due to his extensive client service, operational and technology experience recently becoming General Manager. His current responsibilities include the day to day site operations around the United States where over 500 dedicated team members support all aspects of laboratory services. Over the last several years, the lab has experienced steady menu expansion including in the areas of COVID-19, newborn, sequencing, immunology and prenatal testing. Prior to joining PerkinElmer, he was a consultant focusing on the academic, retail and municipal government segments. He holds a Bachelor of Science degree in Applied Mathematics from Indiana University of Pennsylvania and a Master of Business Administration (MBA) degree from Waynesburg University.

M. Christine Dorley, PhD | TN Assistant Director of the Newborn Screening Laboratory

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.

Sika Dunyoh | Associate Director of Patient Advocacy at Travere

Sika Dunyoh is Associate Director of Patient Advocacy at Travere. In her role, she is responsible for supporting and developing meaningful relationships with the rare disease communities she serves through strategic collaboration and partnerships. Additionally, Sika is leading the development of initiatives to address diversity in the rare disease space.

Before joining Travere, Sika was the Director of Education Programs at the National Organization for Rare Disorders, where she developed and managed programs designed to educate patients and caregivers, healthcare professionals and students. This included NORD’s annual Rare Diseases and Orphan Products Breakthrough Summit. While at NORD, Sika also established a partnership with Platform Q, an online continuing medical education company to deliver quality education to clinicians around the world. In addition, she created NORD’s popular monthly educational webinar series for patients and caregivers.

Prior to NORD, Sika spent almost 15 years developing marketing strategies for scientific societies and developing engaging educational resources for scientific, technical and medical (STM) professionals and researchers. 

In 2015, Sika founded Shine Light on Rare Diseases, an awareness initiative she established in memory of her sister, Carolyn, who passed away from complications of relapsing polychondritis, a rare autoimmune disease. The goal of Shine Light on Rare Diseases was to highlight the prevalence of rare diseases and to help people with rare diseases receive faster diagnoses to save and improve the quality of their lives.

Sika volunteers her time to global health organizations and mentors young professionals pursuing careers in marketing and rare diseases.

Florian Eichler, MD | Neurologist

Dr. Eichler is an Associate Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. He serves as the Director of the Leukodystrophy Service at MGH, Director of the Center for Rare Neurological Diseases at MGH, chair of the Rare Disease Think Tank at MGH, and cofounder and president of the international consortium ALD Connect.

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.

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.

Elisabeth M Fine, PhD | Medical Communications and Outreach

Elisabeth M Fine, PhD leads the Medical Communications and Outreach function at Affinia Therapeutics, where she works to develop tools to educate patients, families, clinicians, and others about our science and medicine. Prior to joining Affinia Therapeutics Elisabeth was the head of Medical Affairs at Voyager Therapeutics, where she also lead the development of tools for patient and patient-advocacy education and engagement. Earlier in her career, Elisabeth spent two plus years with Cambridge BioMarketing supporting clients in the development of multi-audience education and engagement materials with a focus on rare diseases. She has also worked in Global Medical Communications and Publications roles at Biogen Idec and Millennium/Takeda. Before biotech, Elisabeth was on the faculty of the Schepens Eye Research Institute/Harvard Medical School leading the functional vision lab. She is certified in Medical Publications and has earned certificates in Patient Engagement and Regulatory Affairs.

Allison Forkner, MPH | Indiana Genomics and Newborn Screening Director

Allison Forkner serves as the Director of the Genomics and Newborn Screening program at the Indiana Department of Health. She has been with the Genomics and Newborn Screening program for almost five years. Prior to her current role, Allison supported the maternal and child health division through surveillance of congenital anomalies as the Program Manager for the Indiana Birth Defects and Problems Registry. She started her career as an intern in the epidemiology resource center working with the enteric epidemiologist to complete investigations of salmonellosis cases. Allison received her Master of Public Health degree in Epidemiology from the Richard M. Fairbanks School of Public Health at Indiana University-Purdue University Indianapolis in May 2016 and her Bachelor of Science degree in Health Sciences from Purdue University in December 2010.

Michael H. 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).

Patricia Hall, PhD, FACMG |Laboratory Director, Georgia Public Health Laboratory

Patricia (Tricia) Hall, PhD, FACMG, is the Director of Hematology and Chemistry at the Georgia Public Health Laboratory in Atlanta, which includes the newborn screening laboratory operations for the state. Prior to joining GPHL, Tricia worked at EGL Genetics and Emory Genetics Laboratory as the Biochemical Genetics Laboratory Director. She did her fellowship training in Clinical Biochemical Genetics at Mayo Clinic in Rochester, MN. Tricia has been actively involved in newborn screening in Georgia since 2013, serving as an advisory committee member and then co-chair of the state’s Newborn Screening Advisory Committee.

Kim Hollandsworth, BSN, RN, CPN

Ms. Hollandsworth is the Nurse Coordinator for Neurogenetics/Metabolism at Kennedy Krieger Institute. Her experience with leukodystrophies started in 1991 at Johns Hopkins Hospital for 10 years and then onto Kennedy Krieger Institute for a total of 29 years. She has been involved in both research and clinical care. Ms. Hollandsworth feels fortunate to work with such a great team who cares so much for their leukodystrophy families and is proud to be a part of Hunter’s Hope!

Leslie Jacobsen, MD | Senior Vice President, Clinical Development, Neurogene Inc

Dr. Jacobsen, M.D., is a highly accomplished pediatric and adult psychiatrist whose initial career in academic medicine focused on application of cognitive and neuroimaging probes in NIH funded studies of neuropsychiatric disease. Over her subsequent 13+ years in industry, Dr. Jacobsen has led teams working on all phases of clinical development, in neuroscience and in rare neuromuscular and lysosomal disease indications. She joins us most recently from AVROBIO, where she led the development of ex-vivo lentiviral gene therapies for the treatment of Gaucher disease and Cystinosis. Prior to AVROBIO, she held varying roles at Shire, Bristol-Myers Squibb, and Pfizer, working on all phases of clinical development, rare disease and neuroscience. Leslie earned her medical degree from Yale University School of Medicine, served as a Staff Fellow at the Child Psychiatry Branch at the National Institutes of Health, and was an Associate Professor of Psychiatry and Child Study at Yale School of Medicine prior to transitioning to the pharmaceutical industry.

Laura Jones, MD | Children's Healthcare of Atlanta

Dr Jones completed Physical Medicine and Rehabilitation resident at Emory University, followed by Pediatric Rehab fellowship at Cincinnati Children’s. She joined Children’s Healthcare of Atlanta in 2017, and has been part of the Leukodystrophy clinic since 2020.

Bruce Kirbo, Patient Advocate

Bruce W. Kirbo, Jr. is an attorney with a law practice in Bainbridge, Georgia. Bruce is the Grandfather of Cloud Kirbo, a five year old who was diagnosed with Krabbe shortly after his 3rd birthday. After learning that discovery of Krabbe through newborn screening would have greatly enhanced the life of Cloud and finding out that Krabbe was not one of the conditions on the Georgia newborn screening panel, Bruce nominated Krabbe for inclusion on the Georgia panel and subsequently devoted much time, effort and energy to convince the Georgia Newborn Advisory committee to recommend the addition of Krabbe to the panel and to convince the Georgia Legislature to fund the expense of the addition. “

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

Jerome Harris Distinguished Professor of Pediatrics
Professor of Pathology
Director, Marcus Center for Cellular Cures (MC3)
Director, Pediatric Blood and Marrow Transplant Program
Director, Carolinas Cord Blood Bank at Duke
Co-Director, Duke Hospital Stem Cell Transplant Laboratory

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 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 Blood and Marrow Transplant Program, Director of the Carolinas Cord Blood Bank, and Co-Director of the Stem Cell Transplant Laboratory at Duke University. 

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, which are funded by the Marcus Foundation, include the use of autologous cord blood in children with neonatal brain injury, cerebral palsy, and autism, as well as preclinical studies manufacturing microglial oligodendrocyte-like cells from cord blood to treat patients with acquired and genetic brain diseases. Studies of donor cord blood cells in adults with stroke and children with cerebral palsy and autism are also underway.

Dr. Kurtzberg’s lab has developed novel chemotherapeutic drugs for T-cell Leukemias, assays enumerating ALDH bright cells to predict cord blood potency from segments attached to cryopreserved cord blood units, and is performing translational research testing cord blood expansion, cellular targeted therapies and tissue repair and regeneration. Dr. Kurtzberg currently holds several INDs for investigational clinical trials.

Elizabeth McNeil, MD MSc | VP, Clinical Development

Dr. McNeil decided to become a pediatric neurologist at age 13. She did her undergraduate studies at The University of Chicago before returning to her hometown, NYC, to attend medical school at Columbia University. She trained in pediatrics at Texas Children’s Hospital before doing neurology and neuro-oncology training at Children’s Hospital of Philadelphia. Over the course of her career, she has worked in private practice, in industry and in government. She worked at the FDA for almost a decade and then went to the NIH where she was in charge of the Office of Clinical Research for the National Institute of Neurological Disorders and Stroke (NINDS) before leaving for industry. She has worked exclusively in rare diseases since joining industry. She is proud to have worked on both Spinraza (SMA) and Skysona (X-ALD).

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.   

Dietrich Matern, MD, PhD | Director, Biochemical Genetics Laboratory at the 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).

Mia Morrison, MPH | Public Health Analyst

Mia Morrison, MPH is a Public Health Analyst in the Maternal and Child Health Bureau, Division of Services for Children with Special Health Needs, Genetic Services Branch. She is also the Designated Federal Official for the Advisory Committee on Heritable Disorders in Newborns and Children. Since joining HRSA in 2017, Ms. Morrison has served as the Project Officer for the Vision Screening in Young Children Program, Sickle Cell Disease Newborn Screening Follow-up Program and Thalassemia Program. She is the current Project Officer for the Newborn Screening Data Repository and Technical Assistance Center and the Quality Improvement in Newborn Screening Program. Prior to HRSA, Ms. Morrison worked in a Federally Qualified Health Center as the Program Manager for a Maternal, Infant, and Early Childhood Home Visiting Program. She earned a Master of Public Health with a concentration in Maternal and Child Health from the George Washington University.

Joseph 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.

Elizabeth Poplawski, MD | Children's Healthcare of Atlanta

Dr Poplawski has been a Pediatric Rehab doctor at Children’s Healthcare of Atlanta since 2013, and involved in Leukodystrophy clinic since 2018. She completed residency in Physical Medicine and Rehabilitation at University of North Carolina, and fellowship in Pediatric Rehab at Children’s Healthcare of Atlanta.

Margie Ream, MD, PhD | Pediatric Neurologist

Margie Ream, MD, PhD, earned graduate degrees from Duke University.  She is currently an Assistant Professor and Residency Program Director at Nationwide Children’s Hospital in Columbus, OH.  She serves on the Ohio Newborn Screening Advisory Council and as a consultant for the Health Resources and Services Administration regarding outcomes of newborn screening for conditions recently added to the Recommended Universal Screening Panel.  She also serves on several Hunter’s Hope workgroups including the Krabbe NBS Council, the EIKD NBS Case Study Workgroup, and the LOKD NBS Guidelines Workgroup.

Jennifer P. Rubin, MD | Neurologist

Jennifer P. Rubin is an attending neurologist at the Ann & Robert H. Lurie Children’s Hospital of Chicago, and an Associate Professor of Pediatrics in the Neurology Division, Northwestern University Feinberg School of Medicine. She is the co-director of Lurie’s 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. She also has specialized training and interest in acquired demyelinating diseases (such as multiple sclerosis) and pediatric palliative care. Additionally, Dr. Rubin serves as the chairperson of Lurie Children’s Hospital’s Institutional Review Board (IRB).

Caitlin Russo, MS | Research Scientist, NJ NBS Laboratory

Caitlin Russo is a Research Scientist within the Newborn Screening (NBS) Laboratory at the New Jersey State Department of Health. She earned her MS in Biotechnology from Thomas Jefferson University in Philadelphia, Pennsylvania investigating the relationship between the sarcoplasmic reticulum and mitochondria during calcium transport. 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 work with the NJ NBS lab and developed a passion for Newborn Screening. During her time in the lab, she has helped validate and establish both the MS/MS first tier and molecular second tier screening for Lysosomal Storage Disorders in NJ. In her current role, she is responsible for overseeing the implementation of new disorders in the laboratory.

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 | Field Director, U.S. Medical Affairs at Orchard Therapeutics

Angela Tom is the Field Director, US Medical Affairs at Orchard Therapeutics. In this role, Angela is responsible for Field Medical Engagement and Education. 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, and local music.

Sainan Wei, MD, PhD | Medical Director, Kentucky NBS Lab

Dr. Wei received her M.D.,  and M. Sc in Biochemistry from the College of Human Medicine of Wuhan University, China; Ph.D., in Genetics and M. Sc in Epidemiology in the Michigan State University. She completed her Clinical Molecular Genetics and Clinical Cytogenetics training in the Henry Ford Healthy System. Dr. Wei is board certified in both Molecular Genetics and Cytogenetics. She  has over 15 years’s experience in clinical experience including laboratory administration, management, operation, new test development, interpretation of chromosomal aberrations, genomic and genetic variation, as well as inborn errors. She has extensive knowledge and experience of CLIA and CAP regulations.