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December 10, 2020
Sponsored by

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.

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.

Sponsored by

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

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. 

Sponsored by

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.

Sponsored by

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.

Sponsored by

Associate Professor,
Harvard Medical School

Infectious Disease Specialist,
Mayo Clinic

Management of viral infections is critical to prevent severe morbidities and consequences in immune-suppressed transplant patients. While the infections of concern may vary between patient cohorts and transplant populations, cytomegalovirus, BK virus, and Epstein-Barr virus are amongst the most tested in transplant management.

There are diagnostic challenges associated with detecting and monitoring for increases in viral loads related to these infections, including commutability and diminished inter-laboratory agreement. These factors mean that results may vary between centers, and interpretation of viral loads and consequent patient management can be challenging. It is important that laboratorians and clinicians are able to work together to assess results and decide what the results mean for patient management.

  • This webinar will use case studies to explore:
    • How clinicians manage patients presenting with low viral loads
    • How discordant viral DNA results from different centers are managed
  • There will be an open discussion session between the expert speakers, considering:
    • The challenges to standardized viral testing
    • How laboratorians and clinicians can work together to improve care for patients
Sponsored by

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.

Sponsored by

President and CEO, Rady Children's Institute for Genomic Medicine

Associate Lab Director

Co-founder and Chief Science Officer,

Rapid whole-genome sequencing (rWGS) is an emerging method that can provide molecular diagnosis in time to alter acute medical or surgical management and improve outcomes in acutely ill children. The clinical utility of rWGS depends on the ability to rapidly analyze and interpret large amounts of sequencing data. Diagnostic yield and accuracy are of the utmost importance. Validation, and implementation of automated data analysis platforms, including automated literature curation search engines, is needed to increase diagnostic yield while reducing turnaround time. Reliance on expert resources must decrease to drive down operational costs and make this testing more cost-effective.

In this webinar, Dr. Stephen Kingsmore, President and CEO of Rady Children's Institute for Genomic Medicine, will give an executive overview of the two-time world-record-setting Rady rWGS method, followed by a deeper examination of the institute’s analysis and interpretation pipeline by Dr. Katarzyna (Kasia) Ellsworth. The presentation will include a demonstration of the Rady literature curation process that is powered by the Mastermind Genomic Search Engine.

You Will Learn:

  • Why rWGS is essential for undiagnosed infants in an intensive care setting
  • How Rady Children’s Institute for Genomic Medicine uses best-of-breed technology to perform rWGS and deliver precision medicine genomic results in a matter of days
  • How rWGS has been effective in real-world examples
Sponsored by
Partner Webinar

Applications Scientist,
Advanced Cell Diagnostics

Circular RNAs (circRNAs) have recently gained substantial attention in the cancer research field where most, including the putative oncogene ciRS-7 (CDR1as), have been proposed to function as competitive endogenous RNAs (ceRNAs) by “sponging” specific microRNAs.

In this webinar, Lasse Sommer Kristensen of Aarhus University will describe his team’s work in studying the role of circRNAs in cancer. His team recently reported the first spatially resolved cellular expression patterns of ciRS-7 in colon cancer. Surprisingly, they found that ciRS-7 is completely absent in the cancer cells, but highly expressed in stromal cells within the tumor microenvironment.

In addition, they proposed a model to explain correlations between circRNA and mRNA expression, which are commonly interpreted as evidence of a ceRNA function, based on different cancer-to-stromal cell ratios among the studied tumor specimens.

Together, these results have wide implications for future circRNA studies and highlight the importance of spatially resolving expression patterns of circRNAs proposed to function as ceRNAs.

Key points to be discussed in this webinar:

  • The circular RNA named ciRS-7 is overexpressed in human cancers; however, in many types of cancer it is not expressed in the cancer cells, but abundant in stromal cells within the tumors.
  • Cancer-to-stromal cell ratios contribute to correlations between circRNAs and microRNA target genes.
  • Analyses of spatial expression patterns are key to understanding molecular mechanisms of circRNAs in cancer.
Sponsored by
Partner Webinar


We now bring to you year 2020’s very popular SARS-CoV-2 webinars presented by renowned scientists in leading labs, including Sinai Health, Kashi Lab and Blackhawk Genomics, in an on-demand format. Check ways to improve efficiency, throughput, and accuracy of SARS-CoV-2 Testing.

Sponsored by

Associate Professor, Faculty of Veterinary and Animal Sciences, University of Chile

Selective breeding represents an efficient approach to increase production of aquaculture species by means of improving traits, such as rapid growth, product quality, and disease resistance.

Genomic information can be used to accelerate the genetic progress for traits that are difficult to measure on the selection candidates themselves (i.e. genomic selection). Genomic resources such as reference genome sequences and single nucleotide polymorphism (SNP) genotyping panels have been used to speed up genetic progress for several aquaculture species.

This webinar will review recent achievements in the application of genomic technologies for selective breeding of aquaculture species, including salmon, trout, tilapia, and shrimp, among others. The potential application of whole-genome resequencing and meta-analysis for the identification of functional causative variants, and their impact on enhancing selective breeding, will be also addressed. 

Sponsored by
November 10, 2020
Sponsored by
LGC, Biosearch Technologies

IVDR in Light of the COVID Pandemic: The Near Future of In Vitro Diagnostic Testing


Founding Partner,
Axon Lawyers 

The COVID-19 pandemic created a paradigm shift in modern healthcare, where regulations, protocols, and mindsets had to be reworked in just a matter of months to keep up with the pace of the virus. In particular, the in vitro diagnostic (IVD) market experienced a dynamic never seen before: SARS-CoV-2 tests were developed at a record-breaking pace amid global supply shortages as labs struggled to keep up with unprecedented demand.

Although the pandemic is far from contained, the next challenge for the global IVD market lies around the corner. In Europe, the new Medical Device Regulation and IVD Regulation (IVDR) goes into effect on May 26, 2022, and will bring significant changes to the IVD testing space, with CE certification by a notified body becoming the rule rather than the exception and a new strict EU regime for in-house developed tests. Moreover, the Brexit transition period ends in December this year and the UK’s Medicines and Healthcare products Regulatory Agency (MHRA) has recently issued post-Brexit guidance on IVD in the UK. This will not only impact IVD manufacturers, but also have far-reaching consequences for supply chain and distribution, notified bodies, as well as clinical laboratories who are operating in Europe.

In this webinar, Erik Vollebregt, an expert in IVD law from Axon Lawyers, will bring you up to speed on the IVDR and will discuss the impact of the current COVID-19 pandemic on future IVD testing.

Attendees of this webinar will learn:

  • Basic outlines of the new EU IVDR regime.
  • New IVDR requirements around component specifications and maintenance.
  • Impact of the IVDR regime on supply chain and in-house developed tests.
  • EU emergency guidance in the field of IVD development.
Sponsored by

Rachford and Carlota A. Harris Professor,
Department of Pathology, Stanford University

Most recent single-cell and spatial biology studies have focused on the network of interactions between different cell types and their spatial context. However, studying tumor biology at two different levels — the interacting cell types as well as the tissue regions within which they are organized — can give further insight into tumor progression and immunotherapy response.

Dr. Garry Nolan and his team at Stanford University collaborated with the University of Bern to conduct deep single-cell phenotyping and spatial analysis on a cohort of colorectal cancer formalin-fixed, paraffin-embedded samples using the CODEX (CO-Detection by indEXing) platform from Akoya Biosciences. As a result, the authors discovered nine distinct cellular neighborhoods, each uniquely composed of certain immune and cancer cell types. These cellular neighborhoods were found to interact with one another in a manner that correlated with disease progression and prognosis.

In this webinar, Dr. Nolan will discuss the findings from the study and present an analytical framework to analyze high-dimensional imaging data that can reveal new insights into how the tumor microenvironment is organized.

Learning objectives:

  • How to use high-dimensional imaging to study tumor biology at the single-cell and tissue architecture levels
  • How spatial interactions between cellular aggregates in the tumor microenvironment contribute to disease progression and prognosis in colorectal cancer
Sponsored by

Professor of Cancer Prevention,
Hutchison-MRC Research Centre, University of Cambridge

In this webinar, Rebecca Fitzgerald of the Hutchison-MRC Research Center at the University of Cambridge, will give a broad overview of the epidemiology and clinical features of esophageal cancer. Focussing on esophageal adenocarcinoma she will discuss the progress that has been made in understanding the molecular landscape of this cancer from whole genome sequencing and RNA sequencing data. She will describe how although the driver gene landscape is highly heterogeneous the mutational signatures and cell signalling pathways converge to indicate the likely cause and vulnerabilities in esophageal adenocarcinoma which pave the way for new therapy approaches.

In the final part of the webinar Rebecca will discuss how earlier detection of relapse and indicators of response to therapy would help to tailor treatment. Blood biopsy to detect circulating tumor DNA is one such approach and Dr. Fitzgerald will present data to show the potential of a ctDNA mutation panel to detect relapse post-surgery in patients with esophageal adenocarcinoma in a retrospective study.

Sponsored by


The FDA and CDC call for a pause in administering Johnson & Johnson's SARS-CoV-2 vaccine while reports of rare blood clots are looked into, reports the Wall Street Journal.

CNN reports that two new studies suggest the B.1.1.7 SARS-CoV-2 variant may be more transmissible, but may not lead to more severe disease.

According to the Associated Press, a Swiss program aims to shepherd long-term science projects and diplomacy.

In PNAS this week: analysis of pathway affecting acute kidney injury, parental-specific allelic expression in horse placenta, and more.

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