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    Genetic Disease

    Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.

    Webinars

    • JUL 01, 2020 | 2:30 PM
      Reproductive genetic solution on ion torrent NGS
      Reproductive genetic solution on ion torrent NGS
      NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
      Speaker: Ritu Hari, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      2
      JUN 30, 2020 | 9:00 AM
      Quality Control for the Pharmaceutical Industry; Stage 3, Continued Verification, in the Lifecycle of Analytical Procedures
      Quality Control for the Pharmaceutical Industry; Stage 3, Continued...
      DATE: June 30, 2020 TIME: 9:00am PDT, 12:00pm EDT QC laboratories perform a critical role in demonstrating pharmaceutical products are consistently manufactured, safe, potent, and pure. At t...
      Speaker: Jane Weitzel
      Sponsored By: Sartorius
      17 1
      JUN 26, 2020 | 8:00 AM
      Next-Generation Cytogenetics: international, multi-center study of chromosomal aberrations in constitutional diseases and leukemia with Bionano genome imaging
      Next-Generation Cytogenetics: international, multi-center study...
      DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
      Speaker: Alexander Hoischen , Laila El Khattabi
      Sponsored By: Bionano
      16
      JUN 22, 2020 | 7:00 AM
      Host Genetics with the new Axiomâ„¢ Human Genotyping SARS-CoV-2 Research Array
      Host Genetics with the new Axiomâ„¢ Human Genotyping SARS-CoV-2...
      DATE: June 22, 2020 TIME: 7:00am PT, 10:00am ET This is the first topic in the webinar series on ‘Predictive Genomics for Improved Health Outcomes’. A major challenge for healthc...
      Speaker: Shantanu Kaushikkar
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      28 5
      JUN 17, 2020 | 1:30 PM
      Will we have a vaccine for COVID-19? 5 reasons for optimism!
      Will we have a vaccine for COVID-19? 5 reasons for optimism!
      The COVID-19 pandemic has resulted in over 7 million cases and more than 428000 cases to date. While public health interventions and social distancing measures have been effective in slowing...
      Speaker: Rob Kozak, PhD FCCM
      Presented at: Coronavirus Series
      1
      JUN 17, 2020 | 1:30 PM
      Insights into the Pathogenesis of COVID-19 as Revealed by Spatial Biology
      Insights into the Pathogenesis of COVID-19 as Revealed by Spatial...
      Understanding the complex interplay between a pathogen and the host response is important to developing effective vaccines and therapeutics. The nCounter® Analysis System and GeoMx®...
      Speaker: Joseph M. Beechem, PhD , Christopher E. Mason, PhD , Robert Schwartz, PhD
      Presented at: Coronavirus Series
      Sponsored By: NanoString Technologies
      9
      JUN 17, 2020 | 7:30 AM
      Development of Luminex Based Serological Test for COVID-19 Diagnosis and Monitoring
      Development of Luminex Based Serological Test for COVID-19 Diagnosis...
      Coronavirus disease 2019 (Covid-19) is a global pandemic that has impacted the lives of the entire world’s population. Accurate and effective testing mechanisms to identify those with...
      Speaker: Imad Tarhoni, MD, PhD
      Presented at: Coronavirus Series
      Sponsored By: Luminex - A DiaSorin Company
      2
      JUN 17, 2020 | 7:30 AM
      Advanced solutions for viral detection and immune monitoring
      Advanced solutions for viral detection and immune monitoring
      Severe COVID-19 is characterized by dramatic immune system activation and inflammation. Several studies to modulate the immune response and limit immunopathology are ongoing. To better under...
      Speaker: Joel Guthridge, PhD , Petter Brodin, MD, PhD
      Presented at: Coronavirus Series
      Sponsored By: Standard BioTools
      1
      JUN 17, 2020 | 6:00 AM
      Rapid Development of Multiplex Serological Assays for COVID-19 Beyond
      Rapid Development of Multiplex Serological Assays for COVID-19...
      Since the outbreak of the Covid-19 pandemic, the development of diagnostics for both the virus (molecular) and the host immune response (serological) has become essential for monitoring the...
      Speaker: Steve Angeloni , Nicole Pecora, MD, PhD
      Presented at: Coronavirus Series
      Sponsored By: Luminex - A DiaSorin Company
      1
      JUN 12, 2020 | 8:00 AM
      Genome imaging of head and neck solid tumors: oropharyngeal, tongue, and thyroid cancers
      Genome imaging of head and neck solid tumors: oropharyngeal, tongue,...
      DATE: June 12, 2020 TIME: 08:00 am PDT, 11:00 am EDT Whole genome imaging using the Saphyr instrument from Bionano detects structural variants (SVs), such as insertions, deletions,...
      Speaker: Brandon LaBarge
      Sponsored By: Bionano
      21
      JUN 09, 2020 | 6:00 AM
      Smart Plastics: Improving qPCR reliability & reproducibility
      Smart Plastics: Improving qPCR reliability & reproducibility
      DATE: June 9, 2020 TIME: 6am PT, 9am ET, 3pm CEST The importance of disposable plastic consumables and their overall impact on the experimental workflow of qPCR has been taken into considera...
      Speaker: Michael Pfaffl, Ph.D. , Tim Schommartz, PhD , Rafal Grzeskowiak, PhD
      Sponsored By: Eppendorf
      39
      JUN 03, 2020 | 1:00 PM
      Gene manipulation in primary human immune cells: Successful strategies and applications for CRISPRko, RNAi and beyond
      Gene manipulation in primary human immune cells: Successful strategies...
      Gene manipulation studies in primary human immune cells can answer important biological questions within a clinically relevant cellular context. In this webinar we explore the use of several...
      Speaker: Verena Brucklacher-Waldert, PhD
      Presented at: Immuno-Oncology Virtual Event Series 2020
      Sponsored By: Horizon Discovery
      2
      JUN 03, 2020 | 9:30 AM
      Keynote Presentation: The Importance of Tissue Chemistry in Immunity-Oncology
      Keynote Presentation: The Importance of Tissue Chemistry in Immunity-Oncology
      Cancer cells can acquire immune resistance resulting in a loss of immunosurveillance. Tumor cells can upregulate PDL-1 which binds to PD-1. This complex inhibits CD8 Tumor Infiltrating cells...
      Speaker: Thomas M. Grogan, MD
      Presented at: Immuno-Oncology Virtual Event Series 2020
      Sponsored By: Roche Diagnostics
      1
      JUN 03, 2020 | 12:00 AM
      Microenvironment on Demand: A breakthrough technology for personalized cell therapy discoveries
      Microenvironment on Demand: A breakthrough technology for personalized...
      NCI estimates that cancer will be the leading cause of death in 2030, worldwide. Checkpoint inhibitors and adoptive cell therapies (ACTs) cost up to ~$2 million/patient and have shown durabl...
      Speaker: Maithreyan Srinivasan
      Presented at: Immuno-Oncology Virtual Event Series 2020
      1
      MAY 20, 2020 | 12:00 AM
      Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach
      Comprehensive Genomic Association Data for Genetic Variant Interpretation:...
      Design and interpretation of genome sequencing assays and data in both clinical diagnostics and research labs is complicated by an inability to identify information from the medical literatu...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
      1
      MAY 20, 2020 | 12:00 AM
      Single-cell Genomics Tools for better understanding and treatment of Human Disease
      Single-cell Genomics Tools for better understanding and treatment...
      The basic units of biological structure and function are cells, which exhibit wide variation in regard to both type and state. We assess such variation by simultaneously profiling the transc...
      Speaker: Anindita Basu, PhD
      Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
      2
      MAY 19, 2020 | 11:45 AM
      Single-nucleus and Spatial Transcriptomics of Archival Pancreatic Ductal Adenocarcinoma after Neoadjuvant Treatment
      Single-nucleus and Spatial Transcriptomics of Archival Pancreatic...
      Pancreatic ductal adenocarcinoma (PDAC) remains a treatment-refractory disease and existing molecular subtypes do not inform clinical decisions. Previously-identified bulk transcriptomic sub...
      Speaker: William L. Hwang, MD, PhD
      Presented at: Advancing Science - A Virtual Oncology Conference
      1
      MAY 14, 2020 | 7:05 PM
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
      Speaker: Timothy Looney, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 14, 2020 | 7:05 PM
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
      Speaker: Timothy Looney, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 12:00 AM
      Tissue Chips: Building Confidence Through Independent Experimental Testing
      Tissue Chips: Building Confidence Through Independent Experimental...
      Experimental models that promise to replace animal tests that are currently required for drugs and chemicals are rapidly proliferating. This includes a number of novel solutions offered by b...
      Speaker: Ivan Rusyn, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2020
      0
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 13, 2020 | 8:00 AM
      Coronavirus Disease 2019 (COVID-19):  Role of Serologic Testing in Diagnosis and Assessment of Viral Immunity
      Coronavirus Disease 2019 (COVID-19): Role of Serologic Testing...
      Provide education on COVID-19 disease and SARS-CoV-2. Review the types of tests used for the diagnosis of infectious diseases. Discuss approaches to serologic test development. Review the ki...
      Speaker: David M. Engman, MD, PhD
      29 4
      MAY 13, 2020 | 7:00 AM
      Stem cell culture: Make or break - Find the optimum for your MSCs and PSCs
      Stem cell culture: Make or break - Find the optimum for your MSCs...
      DATE: May 13, 2020 TIME: 7am PT, 10am ET, 4pm CEST Stem cells represent an important tool in a wide range of applications, including basic research, disease modeling, drug discovery, and reg...
      Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
      Sponsored By: Eppendorf
      37
    JUL 01, 2020 | 2:30 PM
    Reproductive genetic solution on ion torrent NGS
    Reproductive genetic solution on ion torrent NGS
    NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
    Speaker: Ritu Hari, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    2
    JUN 30, 2020 | 9:00 AM
    Quality Control for the Pharmaceutical Industry; Stage 3, Continued Verification, in the Lifecycle of Analytical Procedures
    Quality Control for the Pharmaceutical Industry; Stage 3, Continued...
    DATE: June 30, 2020 TIME: 9:00am PDT, 12:00pm EDT QC laboratories perform a critical role in demonstrating pharmaceutical products are consistently manufactured, safe, potent, and pure. At t...
    Speaker: Jane Weitzel
    Sponsored By: Sartorius
    17 1
    JUN 26, 2020 | 8:00 AM
    Next-Generation Cytogenetics: international, multi-center study of chromosomal aberrations in constitutional diseases and leukemia with Bionano genome imaging
    Next-Generation Cytogenetics: international, multi-center study...
    DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
    Speaker: Alexander Hoischen , Laila El Khattabi
    Sponsored By: Bionano
    16
    JUN 22, 2020 | 7:00 AM
    Host Genetics with the new Axiomâ„¢ Human Genotyping SARS-CoV-2 Research Array
    Host Genetics with the new Axiomâ„¢ Human Genotyping SARS-CoV-2...
    DATE: June 22, 2020 TIME: 7:00am PT, 10:00am ET This is the first topic in the webinar series on ‘Predictive Genomics for Improved Health Outcomes’. A major challenge for healthc...
    Speaker: Shantanu Kaushikkar
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    28 5
    JUN 17, 2020 | 1:30 PM
    Will we have a vaccine for COVID-19? 5 reasons for optimism!
    Will we have a vaccine for COVID-19? 5 reasons for optimism!
    The COVID-19 pandemic has resulted in over 7 million cases and more than 428000 cases to date. While public health interventions and social distancing measures have been effective in slowing...
    Speaker: Rob Kozak, PhD FCCM
    Presented at: Coronavirus Series
    1
     
     
  • JUN 17, 2020 | 1:30 PM
    Insights into the Pathogenesis of COVID-19 as Revealed by Spatial Biology
    Insights into the Pathogenesis of COVID-19 as Revealed by Spatial...
    Understanding the complex interplay between a pathogen and the host response is important to developing effective vaccines and therapeutics. The nCounter® Analysis System and GeoMx®...
    Speaker: Joseph M. Beechem, PhD , Christopher E. Mason, PhD , Robert Schwartz, PhD
    Presented at: Coronavirus Series
    Sponsored By: NanoString Technologies
    9
    JUN 17, 2020 | 7:30 AM
    Development of Luminex Based Serological Test for COVID-19 Diagnosis and Monitoring
    Development of Luminex Based Serological Test for COVID-19 Diagnosis...
    Coronavirus disease 2019 (Covid-19) is a global pandemic that has impacted the lives of the entire world’s population. Accurate and effective testing mechanisms to identify those with...
    Speaker: Imad Tarhoni, MD, PhD
    Presented at: Coronavirus Series
    Sponsored By: Luminex - A DiaSorin Company
    2
    JUN 17, 2020 | 7:30 AM
    Advanced solutions for viral detection and immune monitoring
    Advanced solutions for viral detection and immune monitoring
    Severe COVID-19 is characterized by dramatic immune system activation and inflammation. Several studies to modulate the immune response and limit immunopathology are ongoing. To better under...
    Speaker: Joel Guthridge, PhD , Petter Brodin, MD, PhD
    Presented at: Coronavirus Series
    Sponsored By: Standard BioTools
    1
    JUN 17, 2020 | 6:00 AM
    Rapid Development of Multiplex Serological Assays for COVID-19 Beyond
    Rapid Development of Multiplex Serological Assays for COVID-19...
    Since the outbreak of the Covid-19 pandemic, the development of diagnostics for both the virus (molecular) and the host immune response (serological) has become essential for monitoring the...
    Speaker: Steve Angeloni , Nicole Pecora, MD, PhD
    Presented at: Coronavirus Series
    Sponsored By: Luminex - A DiaSorin Company
    1
    JUN 12, 2020 | 8:00 AM
    Genome imaging of head and neck solid tumors: oropharyngeal, tongue, and thyroid cancers
    Genome imaging of head and neck solid tumors: oropharyngeal, tongue,...
    DATE: June 12, 2020 TIME: 08:00 am PDT, 11:00 am EDT Whole genome imaging using the Saphyr instrument from Bionano detects structural variants (SVs), such as insertions, deletions,...
    Speaker: Brandon LaBarge
    Sponsored By: Bionano
    21
     
     
  • JUN 09, 2020 | 6:00 AM
    Smart Plastics: Improving qPCR reliability & reproducibility
    Smart Plastics: Improving qPCR reliability & reproducibility
    DATE: June 9, 2020 TIME: 6am PT, 9am ET, 3pm CEST The importance of disposable plastic consumables and their overall impact on the experimental workflow of qPCR has been taken into considera...
    Speaker: Michael Pfaffl, Ph.D. , Tim Schommartz, PhD , Rafal Grzeskowiak, PhD
    Sponsored By: Eppendorf
    39
    JUN 03, 2020 | 1:00 PM
    Gene manipulation in primary human immune cells: Successful strategies and applications for CRISPRko, RNAi and beyond
    Gene manipulation in primary human immune cells: Successful strategies...
    Gene manipulation studies in primary human immune cells can answer important biological questions within a clinically relevant cellular context. In this webinar we explore the use of several...
    Speaker: Verena Brucklacher-Waldert, PhD
    Presented at: Immuno-Oncology Virtual Event Series 2020
    Sponsored By: Horizon Discovery
    2
    JUN 03, 2020 | 9:30 AM
    Keynote Presentation: The Importance of Tissue Chemistry in Immunity-Oncology
    Keynote Presentation: The Importance of Tissue Chemistry in Immunity-Oncology
    Cancer cells can acquire immune resistance resulting in a loss of immunosurveillance. Tumor cells can upregulate PDL-1 which binds to PD-1. This complex inhibits CD8 Tumor Infiltrating cells...
    Speaker: Thomas M. Grogan, MD
    Presented at: Immuno-Oncology Virtual Event Series 2020
    Sponsored By: Roche Diagnostics
    1
    JUN 03, 2020 | 12:00 AM
    Microenvironment on Demand: A breakthrough technology for personalized cell therapy discoveries
    Microenvironment on Demand: A breakthrough technology for personalized...
    NCI estimates that cancer will be the leading cause of death in 2030, worldwide. Checkpoint inhibitors and adoptive cell therapies (ACTs) cost up to ~$2 million/patient and have shown durabl...
    Speaker: Maithreyan Srinivasan
    Presented at: Immuno-Oncology Virtual Event Series 2020
    1
    MAY 20, 2020 | 12:00 AM
    Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach
    Comprehensive Genomic Association Data for Genetic Variant Interpretation:...
    Design and interpretation of genome sequencing assays and data in both clinical diagnostics and research labs is complicated by an inability to identify information from the medical literatu...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
    1
     
     
  • MAY 20, 2020 | 12:00 AM
    Single-cell Genomics Tools for better understanding and treatment of Human Disease
    Single-cell Genomics Tools for better understanding and treatment...
    The basic units of biological structure and function are cells, which exhibit wide variation in regard to both type and state. We assess such variation by simultaneously profiling the transc...
    Speaker: Anindita Basu, PhD
    Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
    2
    MAY 19, 2020 | 11:45 AM
    Single-nucleus and Spatial Transcriptomics of Archival Pancreatic Ductal Adenocarcinoma after Neoadjuvant Treatment
    Single-nucleus and Spatial Transcriptomics of Archival Pancreatic...
    Pancreatic ductal adenocarcinoma (PDAC) remains a treatment-refractory disease and existing molecular subtypes do not inform clinical decisions. Previously-identified bulk transcriptomic sub...
    Speaker: William L. Hwang, MD, PhD
    Presented at: Advancing Science - A Virtual Oncology Conference
    1
    MAY 14, 2020 | 7:05 PM
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
    Speaker: Timothy Looney, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 14, 2020 | 7:05 PM
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
    Speaker: Timothy Looney, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
    MAY 14, 2020 | 12:00 AM
    Tissue Chips: Building Confidence Through Independent Experimental Testing
    Tissue Chips: Building Confidence Through Independent Experimental...
    Experimental models that promise to replace animal tests that are currently required for drugs and chemicals are rapidly proliferating. This includes a number of novel solutions offered by b...
    Speaker: Ivan Rusyn, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2020
    0
     
     
  • MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
    MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 13, 2020 | 8:00 AM
    Coronavirus Disease 2019 (COVID-19):  Role of Serologic Testing in Diagnosis and Assessment of Viral Immunity
    Coronavirus Disease 2019 (COVID-19): Role of Serologic Testing...
    Provide education on COVID-19 disease and SARS-CoV-2. Review the types of tests used for the diagnosis of infectious diseases. Discuss approaches to serologic test development. Review the ki...
    Speaker: David M. Engman, MD, PhD
    29 4
    MAY 13, 2020 | 7:00 AM
    Stem cell culture: Make or break - Find the optimum for your MSCs and PSCs
    Stem cell culture: Make or break - Find the optimum for your MSCs...
    DATE: May 13, 2020 TIME: 7am PT, 10am ET, 4pm CEST Stem cells represent an important tool in a wide range of applications, including basic research, disease modeling, drug discovery, and reg...
    Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
    Sponsored By: Eppendorf
    37
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