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SUMMARY:Expert Roundtable: Advances in Genomic Testing for Rare Disease Diagnostics
DESCRIPTION:Over the past decade\, whole-exome and whole-genome sequencing have transformed the diagnosis of patients with suspected rare genetic diseases. However\, despite recent advancements\, a large number of patients with rare genetic diseases remains undiagnosed for years because they have limited access to comprehensive genomic testing. \nIn this virtual roundtable of leading rare disease experts\, panelists will discuss: \n\nThe state of clinical genomic testing for rare disease at their institutions.\nHow recent advances in sequencing technology and data analysis\, including artificial intelligence (AI)\, are increasing diagnostic rate.\nHow barriers to patient access to testing can be removed to improve the care of all people living with rare genetic diseases.\n\n  \nPanelists:  \nDanny E. Miller\, MD\, PhD\nAssistant Professor\, Department of Pediatrics\, Division of Genetic Medicine\, University of Washington \nVaidehi Jobanputra\, PhD\, FACMG\nAssociate Professor of Pathology and Cell Biology\, Columbia University Medical Center \nGilad D. Evrony\, MD\, PhD\nAssistant Professor\, Departments of Pediatrics and Neuroscience and Physiology\, NYU School of Medicine\n\n\nMalte Spielmann\, MD\, PhD\nProfessor of Human Genetics\, University Hospital Schleswig-Holstein\, Germany
URL:https://staging.digitalinsights.supremeclients.com/webinars-and-events/expert-roundtable-advances-in-genomic-testing-for-rare-disease-diagnostics/
CATEGORIES:Clinical,Webinar
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