JUL 20, 2017 08:00 AM PDT

WEBINAR: Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research

  • Associated Professor, Department of Woman and Child Health, University of Padova, Italy
      Dr. Alessandra Murgia is a Director of Laboratory of Molecular Genetics and Associate Professor of Pediatrics at Department of Neurosciences and Department of Woman's and Child's Health at 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. Dr. Murgia's areas of interest include neurodevelopmental disorders, Intellectual Disability/Autism Spectrum Disorders, Early Onset Epilepsy, and Hereditary Deafness.
    • Senior Product Manager, Clinical Sequencing Division, Thermo Fisher Scientific
        Francisco Hernandez-Guzman is a Senior Product Manager for the Clinical Sequencing Division 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 PhD degree in Biophysics from State University of New York at Buffalo where he worked on projects involving structural biology studies of membrane proteins involved in the estrogen biosynthesis pathway, as well as antibody studies for therapies targeting melanoma. He received his MBA in Marketing from The Rady School of Management at the University of California, San Diego with a focus on marketing and new product development. Francisco has been working in the Life Sciences field for 20 years, has experience in both software field support and software product management. He has been a product manager for the past 7 years, and in the past 2 years he has been responsible for the full Ion AmpliSeq custom product line.


      DATE: July 20, 2017
      TIME: 8:00am PT, 11:00am ET, 5:00pm CEST

      Neurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a wide range of overlapping clinical features. These characteristics pose serious difficulties for diagnoses based on exclusive clinical criteria.  Etiological background of these disorders is essential in gaining fundamental insights into the pathogenic mechanisms and pave the way to a fine understanding of different phenotypes and variable clinical expression associated with NDDs. 

      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. Targeted NGS helps researchers to analyze only the genes of their interest in a rapid, cost-effective manner and thus has the potential to transform the strategies and workflow of research on NDDs.  However, designing a custom panel for disease research requires hours of up-front work involving literature search to select the genes most appropriate for their research, often without any information about how the panel will perform in their lab. 

      In this webinar, Dr. Alessandra Murgia will discuss how her lab implemented targeted NGS to NDD research in a translational research lab. 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, simply by browsing based on disease research type. 

      Ion AmpliSeq Designer enables researchers to configure NGS panels from a growing catalog of pre-tested genes most relevant in inherited disease research. The new content search engine feature allows for an easy selection of genes by their degree of association as informed by widely accepted public databases such as MeSH.  Francisco Hernandez-Guzman, a Senior Product Manager from Thermo Fisher Scientific will demonstrate how to use this web-based primer design tool to customize a panel for Ion Torrent next generation sequencing.

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

      Learning Objectives:

      • Learn about the utility of custom targeted gene panels in clinical research specifically in neurodevelopmental disorders research
      • Watch a live demonstration of designing a custom gene panel from a database of pre-tested genes relevant in inherited disease research


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