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Thermo Fisher Scientific Shares Applications of Targeted Next-generation Sequencing Panels in Neurodevelopmental Disorder Research

Neurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a wide range of overlapping clinical features. The advancement of targeted next-generation sequencing (NGS) has been instrumental in accelerating the pace of discovery in the field of NDD research and testing.

However, designing a custom panel for disease research requires hours of up-front work involving literature searches to select the genes most appropriate for their research, often without any information about how the panel will perform in their lab.

In this educational webinar on Ion Torrent technology, participants will gain a better understanding of the utility of custom targeted gene panels in clinical research specifically in neurodevelopmental disorders research. They will watch a live demonstration of designing a custom gene panel from a database of pre-tested genes relevant in inherited disease research.

Speakers will discuss recent findings from a neurodevelopmental disorder study using custom gene panels. The purpose of this study was to define the pathogenic role of disease-causing candidate genes and develop molecular tools with potential for clinical utility. They will present their hands-on experience in utilizing Ion AmpliSeq On-Demand Panels, a custom panel solution that allows researchers to customize panels from a catalog of wet lab-verified genes most relevant in inherited disease research.

The team at Thermo Fisher Scientific has arranged to have two speakers for this event; Dr. Alessandra Murgia, an associated professor in the Department of Woman and Child Health at the University of Padova in Italy, and Francisco Hernandez-Guzman, senior product manager for Clinical Next Generation Sequencing and Oncology at Thermo Fisher Scientific.

Murgia is a director of Laboratory of Molecular Genetics and associate professor of pediatrics in the Department of Neurosciences and Department of Woman's and Child's Health at the University of Padua. She is a member of the American Society of Human Genetics, European Society of Human Genetics, and Italian Society of Human Genetics. Her areas of interest include neurodevelopmental disorders, Intellectual Disability/Autism Spectrum Disorders, Early Onset Epilepsy, and Hereditary Deafness.

Hernandez-Guzman is a senior product manager for Clinical Next Generation Sequencing and Oncology at Thermo Fisher Scientific. He manages the Ion AmpliSeq Custom product line, which includes oversight of the automated custom design creation process in Ion AmpliSeq Designer, custom design services and overall order intake. Francisco received his doctorate degree in biophysics from State University of New York at Buffalo, before receiving an MBA in marketing from The Rady School of Management at the University of California, San Diego.

LabRoots will host the event July 20, 2017, beginning at 8:00 a.m. PDT, 11:00 a.m. EDT, 5:00 p.m. CEST. To read more on this event, learn of the continuing education credits offered, or to register for free, click here.

For Research Use Only. Not for use in diagnostic procedures.

About LabRoots
LabRoots is the leading scientific social networking website, which provides daily scientific trending news, as well as produces educational virtual events and webinars, on the latest discoveries and advancements in science. Contributing to the advancement of science through content sharing capabilities, LabRoots is a powerful advocate in amplifying global networks and communities. Founded in 2008, LabRoots emphasizes digital innovation in scientific collaboration and learning, and is a primary source for current scientific news, webinars, virtual conferences, and more. LabRoots has grown into the world’s largest series of virtual events within the Life Sciences and Clinical Diagnostics community.

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