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

Alessandra Murgia Associated Professor, Department of Woman and Child Health, University of Padova, Italy; Francisco Hernandez-Guzman Senior Product Manager, Clinical Sequencing Division, Thermo Fishe

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,…

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