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Webinar Science and Life

Neonatal testing for rare diseases: The power of knowing

This webinar is brought to you by the Science/AAAS Custom Publishing Office

Neonatal testing for rare diseases: The power of knowing

Recorded 17 June 2021


While in concept it is straightforward to develop a neonatal testing panel for rare (and common) diseases, the greater challenges are in the dissemination of this panel and the training of medical personnel concerning what to do with the information. Neonatal testing represents a weapon for early detection of rare disease, but implementation is key. Additionally, how the results are shared with patients and what actions are taken based on those results are critical. Join this discussion to learn from experts about the pros and cons of neonatal (and prenatal) testing for rare diseases and what challenges face both the medical community treating these disorders and the patients living with them.

This webinar will last for approximately 60 minutes

Speaker bios

Monica Hsiung Wojcik, M.D.

Boston Children's Hospital & Harvard Medical School
Boston, MA

Dr. Wojcik is a neonatologist and clinical geneticist at Boston Children’s Hospital and an assistant professor in pediatrics at Harvard Medical School who specializes both clinically and academically in rare diseases affecting the fetus and neonate. She obtained her medical degree from Harvard Medical School in Boston, Massachusetts, after which she completed her pediatric residency at the Boston Combined Residency Program in Pediatrics (Boston Children’s Hospital/Boston Medical Center) and combined fellowship training with the Harvard Neonatal-Perinatal Medicine Fellowship Training Program and the Harvard Medical School Genetics Training Program. She is currently obtaining her Master of Public Health degree from the Harvard T.H. Chan School of Public Health and pursuing additional training through the Harvard-wide Pediatric Health Services Research Fellowship Program. Dr. Wojcik’s research focuses on the application of genomic medicine in the perinatal setting, particularly related to genetic diagnosis in the neonatal intensive care unit—where she practices clinically—and related to understanding genetic causes of infant mortality via genomic autopsy. She also consults prenatally for complex fetal cases and runs a multidisciplinary developmental follow-up clinic for infants with genetic conditions.

Roberto Giugliani, M.D., Ph.D.

Federal University of Rio Grande do Sul
Porto Alegre, Brazil

Dr. Giugliani is a medical geneticist with specialization in inherited metabolic diseases. He is a full professor in the Department of Genetics of the Federal University of Rio Grande do Sul, being the founder and active member of the Medical Genetics Service of the university’s hospital, the Hospital de Clínicas de Porto Alegre, in Porto Alegre, Brazil. He is also editor-in-chief of the Journal of Inborn Errors of Metabolism and Screening, chairman of the Latin American School of Human and Medical Genetics (ELAG), and a member of the Brazilian Academy of Sciences. He is past president of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN), the Latin American Network of Human Genetics (RELAGH), and the Brazilian Society of Medical Genetics and Genomics (SBGM). Dr. Giugliani’s main interests are concentrated in screening, diagnosis, and treatment of inborn errors of metabolism, particularly of lysosomal storage diseases. He has supervised the training of over 100 Master’s and doctoral students and has authored more than 500 scientific papers.

Melissa P. Wasserstein, M.D.

The Children's Hospital at Montefiore
Bronx, NY

Dr. Wasserstein is the Chief of the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore and professor of Pediatrics and Genetics at the Albert Einstein College of Medicine. After graduating from Cornell University, she received her medical degree from New York University School of Medicine, followed by a pediatrics residency and medical genetics fellowship at Mount Sinai. A board-certified biochemical geneticist and pediatrician, Dr. Wasserstein diagnoses and manages patients with inborn errors of metabolism. Her research activities focus on expanding and enhancing newborn screening to optimize the outcome of infants with rare disorders. She is the principal investigator on ScreenPlus, a multi-disorder, multi-tiered, consented pilot newborn screening program that includes an exploration of the ethical issues associated with newborn screening for complex conditions. In addition, she has worked with the acid sphingomyelinase deficiency community for her entire career, studying the natural history of this rare disorder and evaluating the safety and efficacy of novel therapeutics. Her other research interest is evaluating the implemenation of genomic medicine in underserved populations through her role as an MPI in NYCKidSeq, a multi-site project in the U.S. National Institutes of Health-funded Clinical Sequencing Evidence-Generating (CSER) Consortium.

James R. Bonham, Ph.D.

International Society for Neonatal Screening
Maarssen, The Netherlands

Dr. Bonham is currently the National Laboratory Lead for the Newborn Screening Blood Spot Programme in the United Kingdom on behalf of Public Health England. He is also president of the International Society for Neonatal Screening, which includes more than 500 members in 40 countries. In 2012, he led a study to introduce additional inherited metabolic disorders into the national newborn screening programme in the UK. Four of these were incorporated as part of the programme in England and Wales, starting in 2015. He has interests in the organisation, quality, and effectiveness of newborn screening and how this might be optimised and extended to benefit patients and families in the UK and Europe, and more recently to low- and middle-income countries as part of the Task Force on Global Newborn Screening. His efforts in these areas were generously recognised by the award of an MBE in 2020.

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently, Dr. Sanders is the Director and Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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