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Chief Medical Officer,

The Phosphoinositide 3-Kinase (PI3K) pathway is one of the most frequently altered pathways in human cancer and plays a significant role in disease progression and resistance to endocrine therapy.

In this webinar, Dr. Lawrence Weiss from NeoGenomics will discuss his experience with the validation and implementation of testing for actionable PIK3CA mutations using the therascreen PIK3CA RGQ PCR Kit.

The webinar will provide an overview of an innovative approach to detecting PIK3CA mutations by testing either tissue or plasma samples and the benefits this brings to breast cancer care. An FDA-approved companion diagnostic test, the therascreen PIK3CA RGQ PCR Kit helps clinicians identify actionable PIK3CA mutations in breast cancer cases to inform patient treatment choices.

The webinar will focus on the following topics:

  • Overview of HR+/HER2- breast cancer progression and resistance to endocrine therapy.
  • The biology and activation of the PI3K pathway and its role in cancer.
  • Validation and implementation of the therascreen PIK3CA RGQ PCR Kit for testing of both formalin-fixed, paraffin-embedded tissue and plasma samples.
  • The provision of Day 1 availability of PIK3CA mutation companion diagnostic testing.

The therascreen PIK3CA RGQ PCR Kit is intended for in vitro diagnostic use. Products and product claims may differ from country to country based on regulations and approvals. Contact your country representative for further details.

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Assistant Professor, University of Texas Southwestern Medical Center

Recent work by many investigators has discovered that over the course of aging, hematopoietic stem cells (HSCs) commonly undergo clonal expansion. There are many consequences of this phenomenon, ranging from bone marrow failure syndromes such as the myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), to phenotypes outside of the blood system such as vascular disease.

Understanding the mechanisms that allow clonal HSCs to expand and cause disease will be critical for developing strategies to identify patients at high risk for adverse clinical outcomes who may benefit from pre-emptive interventions. A major limitation to such studies is the fact that clonal HSCs are often present at low frequencies and intermixed with their unmutated counterparts.

In this webinar, Stephen Chung, MD, of the University of Texas Southwestern Medical Center will discuss his team’s efforts to overcome this limitation by identifying cell surface markers present on clonal HSCs that will allow them to prospectively purify them for further functional and molecular studies. Towards this end, Mission Bio's Tapestri single-cell multi-omics platform has made possible the correlation of cell surface phenotype with genotype with unprecedented resolution and throughput.

Dr. Chung will present some of his team’s prior work describing cell surface markers aberrantly expressed on disease stem cells in MDS and AML, as well as some preliminary data utilizing the Mission Bio Tapestri single-cell multi-omics platform to identify novel disease stem cell associated markers.

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Associate Professor, Director, Garvan-Weizmann Centre for Cellular Genomics

The human immune system displays remarkable variation between individuals, which itself leads to differences in how individuals respond to pathogens and their susceptibility to disease. However, knowledge of how genetic differences contribute to this variation at the level of individual immune cell types has been limited. This is due to the challenges of generating data from a large number of cells in large numbers of individuals, which is required to address these questions. 

This presentation with cover both conceptional and practical challenges in generating and analyzing population-scale single-cell data. It will include a discussion of results from the OneK1K project, which is analyzing 1,000 cells from 1,000 people, with a focus on identifying single-cell expression quantitative trait loci (eQTL) and their role in contributing to disease risk. 

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12:00 pm2020
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Thermo Fisher Scientific

Predicting COVID-19 Severity From Genetic and Other Biomarkers: A Virtual Roundtable Discussion


Director, Englander Institute for Precision Medicine,
Weill Cornell Medicine

Senior Manager of Genetic Epidemiology,
AncestryDNA, LLC

Director, Division of Cancer Epidemiology and Genetics,
National Cancer Institute

Director, Institute of Biochemistry; Group Leader, Biochemistry and Systems Biology of Metabolism,
Charité University Medicine

The unfolding of the COVID-19 pandemic has shown that disease severity does not always correlate with age, preexisting medical conditions, or other clinical features. While some individuals can be infected with SARS-CoV-2 with few or no symptoms, others become severely ill with the disease.

This panel discussion will explore a variety of ongoing research projects and approaches that aim to discover genetic and other biomarkers to help predict who is at risk of developing severe COVID-19.

Our expert panelists will discuss how they are approaching this research challenge as well as the longer-term goals of their work. The discussion will address the opportunities and challenges of implementing their findings into clinical care, particularly within the context of other predictors of disease severity. The roundtable discussion will be followed by a live question-and-answer session with attendees.

Sponsored by

Director, Analytical Biochemistry Applications Development, Inscripta

Senior Scientist, Applications Development, Inscripta

Head of Applications Enablement, Tecan

CRISPR has developed into a core tool to facilitate genome editing, inspiring transformative ideas in engineering biology. However, first-generation CRISPR technologies have been limited in scalability, accessibility, edit variety, and ease of use, restricting the potential of the technology.

Inscripta’s Onyx platform addresses these limitations by combining easy-to-use software with an automated benchtop device, enabling high efficiency, massively parallel, precision-engineered edits to Saccharomyces cerevisiae and Escherichia coli genomes. The platform offers an end-to-end solution from design through engineered strain library and analytics, accelerating the Design, Generate, Test and Learn cycle.

This webinar will present two applications in E. coli that leverage this platform technology. One application uses forward engineering with libraries totaling more than 200,000 different designs to increase lysine production by 14,000-fold. The second application is a targeted library approach with more than 900 edits, delivering new biochemical and structural insights underpinning resistance to otherwise growth-inhibitory compounds.

These applications demonstrate the power of genome-wide editing for rapid strain development.

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6:00 pm2020
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Five Things to Consider When Ordering NIPT


Senior Genetic Counsellor,

Numerous companies now offer non-invasive prenatal screening (testing), many on different technology platforms. Healthcare professionals face the new challenge of ensuring their patients are appropriately counselled on the limitations and benefits of NIPT. However, this is complex, as the specific technical differences of the platforms alter the counselling.

Further, NIPT platforms are continuing to evolve, providing increasing options for patients and adding to the complexity of counselling.

This webinar is focused on the genetic counselling aspects of NIPT on all platforms, in order to assist healthcare professionals in their discussions with their patients.

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1:00 pm2020
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Case Study: Deployment of High-Throughput SARS-CoV-2 Testing at UC Davis


Director, Genome Center,
University of California at Davis

Senior Field Application Scientist,

Director, COVID Diagnostics Strategy and Market Development,
LGC, Biosearch Technologies

Diverse components of the UC Davis campus have been mobilized to deploy HTP testing to provide a safe working environment and keep the pandemic under control. These efforts are being integrated with the Healthy Davis Together initiative, which is providing free testing for everyone in the City of Davis. The goal is to provide at least weekly testing combined with more frequent strategic testing. This requires rapid data analysis software that minimizes the time needed to accurately call, certify, and return results. 

In this webinar, Prof. Richard W. Michelmore, director of the Genome Center at UC Davis, will describe how his team based its approach on workflows developed in the agricultural biotechnology sector that are capable of cost-effectively generating millions of data points per day. 

Prof. Michelmore will discuss details of the entire workflow, from sample collection through to a data management system that his team developed that uses Ugentec’s Fastfinder software. 

After Dr. Michelmore’s presentation, James Grayson of UgenTec will briefly discuss FastFinder, which allows labs and assay providers to build sample-to-result workflows. 

After this, Ross Higgins of LGC, Biosearch Technologies will briefly introduce how their instrumentation solutions support very large scale screening initiatives.

The presentations will be followed by an interactive Q&A session with attendees.

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Recent GenomeWebinars

Department of Medical Oncology, Hospital Clinic,
Laboratory of Translational Genomic and Targeted Therapies in Solid Tumors, IDIBAPS; Barcelona, Spain

In non-small cell lung cancer (NSCLC), liquid biopsy allows detection of driver mutations and can shed light on the development of resistance mutations during treatment. 

This webinar will provide an overview of several studies that used a NSCLC liquid biopsy test, InVisionFirst-Lung. The assay enabled the analysis of markers present at the beginning of treatment and at progression, providing valuable insights into resistance to ALK/ROS1 and BRAF targeted agents.

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