GenomeWebinars: Recent

The global challenge of antibiotic resistance, driven by "superbugs", has spurred Certest Biotec to develop a rapid and flexible solution for detecting antibiotic resistance genes in several bacterial pathogens, enabling fast and effective treatment. This innovation combines precise robotics and lyophilization, ensuring accurate sample handling, long-term reagent stability, and cost-effective distribution. 

In this webinar, Cristina Escolar and Pablo Sanz, both product specialists for molecular diagnostics at Certest will: 

• Explain the problem of antimicrobial resistance from a public health perspective.
• Discuss applications of using real-time PCR to understand the main molecular resistance mechanisms involved.
• Demonstrate how molecular diagnosis speeds up decision making avoiding direct and indirect consequences.
• Show how working with an OEM partner helped them to scale their innovation. 
• Share key consideration factors for a successful OEM partnership.

This webinar is part four of the four-part Precision Oncology News Virtual Molecular Tumor Board series.

The field of precision oncology generates vast amounts of genomic, clinical, and imaging data. Our panelists will focus on the application of artificial intelligence, machine learning, and data integration techniques to leverage these large datasets for accurate diagnosis, prediction of treatment response, and identification of novel therapeutic targets. This session will explore how integrating diverse data sources can revolutionize cancer genomics research and broaden our understanding of this complex disease.

The webinar aims to provide a comprehensive overview of the latest advancements in the clinical management of high-grade ovarian cancer, with a focus on incorporating information regarding homologous recombination deficiency (HRD) and BRCA statuses obtained through decentralized, in-house assays. Four experts in the field — one anatomic pathologist, two medical oncologists, and one biologist — will present selected clinical cases to illustrate the integration of in-house HRD and BRCA status assessment into routine clinical practice.

The speakers will discuss the challenges and benefits associated with the transition from a centralized testing system to a decentralized, in-house assessment, in terms of results reporting, management of indeterminate cases, and communication among involved healthcare professionals. 

This webinar will aim to foster interdisciplinary collaboration among oncologists, geneticists, pathologists, and molecular biologists, facilitating a holistic approach to the clinical management of the most deadly gynecological cancer in the promising era of personalized treatments for patients with high-grade ovarian cancer.

DNA methylation can inform us about the biological mechanisms that underlie common disease states given that it incorporates information from both our genetics and the environment. Epigenome-wide association studies (EWAS) investigate whether the proportion of methylation at loci termed CpG sites (cytosine-phosphate-guanine dinucleotides) associate with health outcomes of interest. Previous EWAS have typically focused only on individual conditions and have had relatively small sample sizes (fewer than 1,000 individuals). In this webinar, Robert Hillary of the Institute of Genetics and Cancer at the University of Edinburgh will discuss a recent study that examined the association of blood DNA methylation with the prevalence and incidence of 19 disease states in more than 18,000 Scottish individuals.

DNA methylation was measured using the Infinium MethylationEPIC array and whole-blood samples from 18,413 volunteers in Generation Scotland. The webinar will first focus on methods to integrate DNA methylation data with health questionnaires and electronic health records to uncover loci that associate with common disease risk. Here, over 100 sites in the genome were linked to five disease states, including breast cancer, ischemic heart disease, and type 2 diabetes, independently of major confounding lifestyle risk factors. The webinar will then shift focus to an apparent replication crisis among previous epidemiological studies that examine the relationship between DNA methylation and human disease. Of 19 disease states studied, lung cancer showed the highest degree of replication among existing studies (17 percent of findings replicated in at least two studies).

What you will learn in this webinar:

• The advantages and challenges of applying methylation arrays to population biobanks
• Statistical methods to combine DNA methylation data with self-reported and routinely collected health information  
• The impact of confounders, such as lifestyle risk factors, on associations between DNA methylation and common disease states
• Biological insights from the largest single-population study, to date, examining DNA methylation and multiple disease states
• Recommendations to improve replication among epigenomic studies, including consensus on covariate strategies, phenotype definitions, and reporting guidelines

Long-read nanopore sequencing has the potential to improve both the speed and yield of genetic characterization and information.

In this webinar, Steven Jones from the Michael Smith Genome Sciences Centre at will discuss the benefits of long-read nanopore sequencing for a range of research applications. His presentation will cover how:

• Long reads can more accurately discover and define large-scale structural variation, and the alignment of long reads can provide a more accurate assessment of regions that are highly repetitive and duplicated;
• Using epigenomic signals associated with sequencing data can help confirm the pathogenicity for variants initially determined to be of unknown significance, thereby improving time to results, and potentially diagnosis;
• Detection of phased methylation can determine imprinted regions, and coupling this information with long-range haplotyping allows assignment of parental origin of all human autosomes, which could significantly increase the speed and reduce the cost of hereditary cancer testing.

In this roundtable discussion, a panel of academic, commercial, and interested advocates will discuss the challenges and opportunities of providing expanded newborn screening by whole-genome sequencing to newborns. The panel will discuss the regulatory environment, design of service, response by physicians, response by parents, data management, and opportunities for “sequence once, re-analyze often” approaches.

Attendees will learn how current products are designed and commercialized today using a network of stakeholders to assure quality of service. In addition, parent advocates will discuss opportunities to limit diagnostic odyssey and how expanded newborn screening could help parents in the future.

Shriners Hospitals for Children Genomics Institute is developing a clinical whole-genome sequence database including patients with orthopedic and neurological rare disorders and their biological parents for research purposes. So far, the plan is to sequence 5,000 families including subjects from across the world. As part of this large-scale program, the Genomics Institute has focused on a cohort of 500 families with children affected with juvenile/adolescent idiopathic scoliosis.

Currently, the genetics of this disorder is being studied by whole-genome and transcriptome sequencing as well as a zebrafish model to functionally validate the pathologic variants identified.

This type of project can only scale with high sequencing capacity and connected enterprise bioinformatics solutions. In this webinar, Kamran Shazand, director of the Genomics Institute, will discuss how his team has leveraged a connected software workflow and artificial intelligence to catalyze the extraction of highly valuable data and generate novel insights that drive towards the greater Shriners’ mission.

This webinar is part three of the four-part Precision Oncology News Virtual Molecular Tumor Board series.

This event will explore the molecular mechanisms and signaling pathways responsible for therapeutic resistance in cancer patients receiving targeted therapies.

Attend this event to:

• Identify key alterations driving resistance to developing new strategies to overcome it.
• Learn advancements in understanding resistance mechanisms and how they hold immense potential for improving cancer patient outcomes.

In this roundtable discussion, a panel of experts will discuss the exploding role of ctDNA for molecular residual disease assessment in patients with gastrointestinal cancers.

Our experts will review:

• Recently presented data and its potential application in the clinic.
• The role of serial ctDNA testing and its impact on patient management.
• Real-world case studies showing when and where ctDNA can help inform shared decision making.
• A patient’s perspective: how personalized ctDNA testing has impacted his treatment journey.

Panelists 

Adham Jurdi, MD Gastrointestinal Medical Oncologist, Medical Director Natera

Benjamin Weinberg, MD Gastrointestinal Medical Oncologist Associate Professor of Medicine, MedStar Georgetown University Hospital

Ron G. Landmann, MD, FACS, FASCRS Chief, Section of Colon & Rectal Surgery, Baptist MD Anderson Cancer Center

Trevor Maxwell Founder and Owner Man up to Cancer

Helicobacter pylori infection affects nearly half of the world’s population. This webinar will review the demographics, pathophysiology, and complications of H. pylori infection, as well as several tests that are available for the diagnosis of H. pylori infection.

Our speaker, Dr. Aamir Ali, will discuss the strengths and weaknesses of each test, focusing on the recommendation of the gastroenterology societies to preferentially use tests of active infection rather than serology, which is a test of prior exposure.

The role of genetic panels in the development of precision oncology has gained significant importance in recent years. In this webinar, Benjamin García-Bloj, Precision Oncology Center director at Universidad Mayor and the director of genetic counseling at Clínica Las Condes, and Ahmet Uludag, chairman of the board of directors of the NGC Genetic Diseases Evaluation Center, will explore the importance of clinically actionable mutations and the discovery of new treatment targets, as well as the significance of genetic panels in the context of precision oncology in Turkey and Chile. The speakers will discuss the transformative impact on precision oncology of advanced NGS technology, offering insights into the growing importance of NGS technologies, the potential for shaping the future of the accuracy of cancer risk assessment, and promoting holistic, patient-centered cancer care.

Human brain development unravels during months of the prenatal period and years after birth. This process involves a multitude of cell lineages that use specialized molecular programs to control the genesis, differentiation, and maturation of specific neuronal and glial cell types. Epigenetic signaling, including DNA methylation, is a key component of these molecular programs, and dysregulation of epigenetic programs during brain development is associated with neurodevelopmental disorders, such as autism. Dissecting the mechanisms of normal human brain development and disease requires tools to access epigenetic signatures of specific cell types.

In this webinar, Dmitry Velmeshev, assistant professor at Duke University, will discuss the first trial of single-cell DNA methylation profiling of the developing and mature human neocortex integrated with single-cell gene expression and open chromatin data. The team’s preliminary results suggest a feasibility of studying DNA methylation dynamics on the single-cell level during human brain development using snap-frozen brain tissue samples.

This webinar is part two of the four-part Precision Oncology News Virtual Molecular Tumor Board series.

Liquid biopsies have emerged as a powerful tool in precision oncology, allowing non-invasive detection and monitoring of tumor-derived DNA, RNA, and proteins in body fluids. This session will focus on the utilization of liquid biopsies for early cancer detection, monitoring treatment response, and uncovering genomic alterations or resistance mechanisms, ultimately advancing patient care in the era of precision medicine. 

Clinical metagenomic next-generation sequencing (mNGS), the comprehensive analysis of microbial and host DNA and RNA in samples from patients, is rapidly moving from research to clinical laboratories. This emerging approach is changing the diagnosis and treatment of diseases, with applications in a range of areas, including oncology, human host gene expression (transcriptomics), and antimicrobial infections and resistance.

In this webinar, Elif Dagdan, the director of the Center for Medical Genetics at Augusta Hospital Bochum in Bochum, Germany, will discuss real-world applications of using clinical mNGS to improve diagnostics of cancer and infectious diseases. The talk will also feature challenges and opportunities of using mNGS in disease diagnostics and how Dagdan’s lab uses clinical variant interpretation and reporting software from Qiagen to detect and characterize pathogenic somatic variants.

Dagdan will discuss:

• How mNGS can be used to assess homologous recombination deficiency (HRD) status in patients with ovarian cancer.
• How mNGS can be used to assess cell-free microbial DNA via liquid biopsy to aid in early-stage lung cancer diagnosis.
• How mNGS can improve the accuracy and speed of infectious disease diagnostics, with a use-case on cardiovascular infections in intensive care units.