Farah Patell-Socha, Senior Product Manger, Diagnostics at Horizon Discovery and Josh Haimes, Technical Lead, Applications at ArcherDX detail how Horizon Discovery and ArcherDX partnered to develop the Archer™ SureShot™ ALK, RET, ROS1 fusion-positive and -negative reference standards.
Topics covered include:
Chromosomal rearrangements resulting in gene fusions are an important class of mutations in cancer. For example, kinase domains from genes not normally expressed, when fused to promoters of expressed genes, can result in deregulation of critical growth and survival signaling pathways. Gene fusions are found in myriad, disparate cancer types, but they are typically rare (e.g., ~4% of lung adenocarcinomas and ~12% of thyroid carcinomas).
Detecting gene fusions in clinical FFPE sample types presents challenges that Archer FusionPlex™ NGS assays address, but given the relatively low frequency of these mutations, there is still need for reproducible fusion standards for routine use alongside NGS-based RNA fusion assays. Archer SureShot Fusion Controls are genetically defined ALK, RET and ROS1 fusion-positive cell lines in an FFPE curl format that were created in partnership with Horizon Discovery. These curls serve as a control for sample extraction, library preparation, sequencing and panel performance for the FusionPlex workflow.
In this webinar, Farah Patell-Socha and Josh Haimes describe the design and evolution of the SureShot Fusion Controls, validation across 7 Archer FusionPlex assays, and their utility in routine NGS-based RNA fusion testing.
Farah leads the IHC, FISH and RNA Reference Standard Product Development program at Horizon Diagnostics. Farah works closely with a broad range of European, North American Quality assurance schemes, leading pathologists and reference laboratories with the goal of driving the standardization of immunohistochemistry and molecular assays across the globe.
Farah holds a PhD in Cell Cycle from the University of Cambridge and did post-doctoral work in muscle stem cell biology at the National Centre for Biological Sciences.
Josh was born and grew up in Boulder, Colorado and picked up a pipette to run his first PCR while a high school student at Boulder High. He studied Cell and Molecular Biology at the University of Texas at Austin, where he worked under Greg Clark in Stanley Roux's plant genetics lab, focused on plant response to environmental stimuli.
Josh has been working for Boulder biotech companies for 15 years and is the Technical Lead for the Applications Group at ArcherDX. Outside of biology, Josh has interests for music, travel and just about anything involving the outdoors, especially the mountains.
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