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