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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

    • APR 02, 2024 | 8:00 AM
      Gaining multi-dimensional insights into cancer heterogeneity: Co-analysis of CTCs and ctDNA derived from a single liquid biopsy sample
      Gaining multi-dimensional insights into cancer heterogeneity:...
      Circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have each gained attention as promising liquid biopsy markers, offering molecular insights into cancer progression, overall s...
      Speaker: Yoon-Tae Kang, PhD , Abiodun Bodunrin, PhD
      Sponsored By: Bio-Rad Laboratories
      22
      MAR 27, 2024 | 9:00 AM
      PART 1: Utilizing the 6-base genome to investigate the dynamics of enhancer DNA methylation during cellular differentiation
      PART 1: Utilizing the 6-base genome to investigate the dynamics...
      Join Dr. Emily Hodges, assistant professor of biochemistry at Vanderbilt University, to learn more about how the Hodges Lab is utilizing the 6-base genome to investigate the dynamics of enha...
      Speaker: Dr. Emily Hodges
      Sponsored By: biomodal
      11
      MAR 26, 2024 | 7:00 PM
      C.E. CREDITS
      Educational Webinar: Implementation of a Preemptive Pharmacogenomics Program at a Pediatric Health System
      Educational Webinar: Implementation of a Preemptive Pharmacogenomics...
      The implementation of a preemptive pharmacogenomics (PGx) program in a hospital setting requires a multidisciplinary approach to ensure seamless integration of each stage of the process for...
      Speaker: Steven Melnick. Ph.D., M.D. , Dr. David Mancuso, Pharm.D. CPh , MSPM
      Sponsored By: Thermo Fisher Scientific
      16 1
      MAR 26, 2024 | 8:00 AM
      C.E. CREDITS
      Educational Webinar: Implementation of a Preemptive Pharmacogenomics Program at a Pediatric Health System
      Educational Webinar: Implementation of a Preemptive Pharmacogenomics...
      The implementation of a preemptive pharmacogenomics (PGx) program in a hospital setting requires a multidisciplinary approach to ensure seamless integration of each stage of the process for...
      Speaker: Steven Melnick. Ph.D., M.D. , Dr. David Mancuso, Pharm.D. CPh , MSPM
      Sponsored By: Thermo Fisher Scientific
      22
      JAN 31, 2024 | 11:00 AM
      Experience with the EPIC BeadChip in Human and Non-human Primates
      Experience with the EPIC BeadChip in Human and Non-human Primates
      ...
      Speaker: Timothy Howard, PhD
      Presented at: The Illumina Epigenetics Experience
      Sponsored By: Illumina
      3
      JAN 31, 2024 | 10:00 AM
      Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors - A prospective study and guidelines for clinical testing
      Clinical utility of whole-genome DNA methylation profiling as...
      ...
      Speaker: Matija Snuderl, MD
      Presented at: The Illumina Epigenetics Experience
      Sponsored By: Illumina
      6
      JAN 16, 2024 | 8:00 AM
      Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
      Case studies: Real world examples of how labs can use HGMD Professional...
      The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whet...
      Speaker: Ana Krivokuca, PhD
      Sponsored By: QIAGEN
      35 1
      DEC 12, 2023 | 7:00 AM
      Roundtable: Non-invasive vs Invasive Preimplantation Genetic Testing (PGT)
      Roundtable: Non-invasive vs Invasive Preimplantation Genetic Testing...
      An estimated 48.5 million couples suffer from infertility worldwide, driving up usage of assisted reproductive technologies around the globe. As a result, preimplantation genetic testing (PG...
      Speaker: Anil Biricik, PhD , Sandrine Chamayou, PhD , Prof. Volkan Baltaci, MD, PhD , Alok Tomar, PhD
      Sponsored By: Thermo Fisher Scientific
      34
      DEC 07, 2023 | 8:00 AM
      Translating COSMIC's gold standard data into actionable insights
      Translating COSMIC's gold standard data into actionable insights
      As the vast landscape of genetic oncology continues to expand, the ability to understand and utilize the full potential of this rich data becomes increasingly challenging. As a result, resea...
      Speaker: Leonie Hodges , Alex Holmes, Ph.D. , Jennifer Wilding, Ph.D.
      Sponsored By: QIAGEN
      15
      NOV 30, 2023 | 12:00 PM
      C.E. CREDITS
      Revolutionizing Solid Tumor Management: Unleashing the Potential of Liquid Biopsy
      Revolutionizing Solid Tumor Management: Unleashing the Potential...
      Pathology Perspective: Discover the critical need for genomic testing in cancer and explore the differences between traditional tissue biopsies and liquid genomic profiling. We'll dive i...
      Speaker: Dr. Shuko Harada , Dr. Aakash Desai, MBBS, MPH
      Presented at: Precision Medicine in Solid Tumors
      5
      NOV 29, 2023 | 9:00 AM
      Labcorp® Plasma Focus™
      Labcorp® Plasma Focus™
      Tumor genomic profiling can be complicated, especially for diseases that commonly have multiple different genomic biomarkers of interest, such as non-small cell lung cancer (NSCLC) and color...
      Speaker: Mark Sausen, PhD , Mohamad Khasawneh, MD
      Sponsored By: Labcorp Oncology
      21
      NOV 14, 2023 | 8:00 AM
      High-throughput RNA-Seq of clinical samples using Covaris AFA ultrasonication
      High-throughput RNA-Seq of clinical samples using Covaris AFA...
      RNA-Seq remains a critical and robust methodology in understanding cellular and organismal changes associated with development and disease. Advances in automation have helped reduce the cost...
      Speaker: Madan Ambavaram, Ph.D. , Stuart Levine, Ph.D.
      Sponsored By: Covaris
      12
      NOV 09, 2023 | 6:00 AM
      Using MERFISH to decode spatially regulated disease drivers in human heart and kidney disease
      Using MERFISH to decode spatially regulated disease drivers in...
      In this talk we will explore the application of Multiplexed Error-Robust Fluorescence in situ Hybridization (MERFISH) technology to decode spatially regulated disease drivers in human heart...
      Speaker: Christoph Kuppe, MD, MHBA
      Sponsored By: Vizgen
      8
      NOV 08, 2023 | 8:00 AM
      Time to revisit RNA preservation - Synergy Blood Collection Tube
      Time to revisit RNA preservation - Synergy Blood Collection Tube
      SiO2 Materials Science is a company with deep roots in materials science and engineering and a track record of innovative packaging products for pharmaceutical drugs. The company also manufa...
      Speaker: Chris Weikart, PhD , Ishfaq Maksud
      Sponsored By: SIO2 Materials Science
      8
      OCT 31, 2023 | 9:00 AM
      AAV Gene Therapy: A novel approach to AAV biopanning in human brain
      AAV Gene Therapy: A novel approach to AAV biopanning in human...
      Gene therapy holds potential for treating neurological diseases by delivering genetic information into specific cell types. However, selective and efficient targeting of cell types remains c...
      Speaker: Joshua Ortiz-Guzman, Ph.D.
      Sponsored By: Leica Microsystems
      11
      OCT 24, 2023 | 9:00 AM
      Introducing a streamlined solution to capture superior multiomic information at single-base resolution from limited DNA
      Introducing a streamlined solution to capture superior multiomic...
      DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology in health and disease. The interaction of genetics with th...
      Speaker: Páidí Creed, Ph.D. , Nick Harding, Ph.D.
      Sponsored By: biomodal
      9
      OCT 24, 2023 | 8:00 AM
      Scaling Up Organoid Research: A New Approach with Assay-Ready Organoids
      Scaling Up Organoid Research: A New Approach with Assay-Ready...
      Organoids are three-dimensional (3D) multi-cellular, microtissues derived from stem cells that closely mimic the complex structure and functionality of human organs. They offer more accurate...
      Speaker: Angeline Lim , Andy Bashford
      Sponsored By: Molecular Devices
      9
      OCT 24, 2023 | 10:00 AM
      Scaling Up Organoid Research: A New Approach with Assay-Ready Organoids
      Scaling Up Organoid Research: A New Approach with Assay-Ready...
      Organoids are three-dimensional (3D) multi-cellular, microtissues derived from stem cells that closely mimic the complex structure and functionality of human organs. They offer more accurate...
      Speaker: Angeline Lim , Andy Bashford
      Sponsored By: Molecular Devices
      12
      OCT 11, 2023 | 9:00 PM
      Development of a Novel Targeted NGS Panel for Analysis of DNA Methylation Biomarkers in Lung Cancer Research
      Development of a Novel Targeted NGS Panel for Analysis of DNA...
      Epigenetic modifications such as DNA methylation have long shown promise as potential biomarkers to diagnose and guide treatment of many human diseases, including multiple types of cancers....
      Speaker: Dr. Lucia Anna Muscarella, Ph.D. , Dr. Cristina Guillén, Ph.D.
      Sponsored By: Thermo Fisher Scientific
      20
      OCT 05, 2023 | 1:00 AM
      C.E. CREDITS
      Upscaling Organoids: Automated solutions for high throughput cell applications
      Upscaling Organoids: Automated solutions for high throughput cell...
      Organoids continue to gain traction in drug discovery efforts as they offer a more biologically relevant disease model than traditional approaches. But they aren't without challenges. Jo...
      Speaker: Nathan Gödde , Mathilde Cordellier
      Sponsored By: Revvity
      21
      AUG 01, 2023 | 10:00 AM
      Congenital CMV:  Standards of care, Knowledge Gaps, and a Story
      Congenital CMV: Standards of care, Knowledge Gaps, and a Story
      Human cytomegalovirus (CMV) infection is common and usually results in a mild, non-specific illness in otherwise healthy individuals followed by asymptomatic latency. However, congenital CMV...
      Speaker: Dr. Laura Gibson
      Sponsored By: Diasorin
      33
      JUL 26, 2023 | 3:10 PM
      Harnessing iNKT Cells for "Off-The-Shelf" Cancer Therapy
      Harnessing iNKT Cells for "Off-The-Shelf" Cancer Therapy
      Cell-based immunotherapy has become the new-generation cancer medicine, and “off-the-shelf” cell products that can be manufactured at large scale and distributed readily to treat...
      Speaker: Dr. Lili Yang
      Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
      4
      JUL 26, 2023 | 1:50 PM
      Characterization and biodistribution of REGENXBIO NAV® platform capsids: under-employed gene therapy vector AAV7
      Characterization and biodistribution of REGENXBIO NAV® platform...
      The use of adeno-associated viruses (AAV) as gene delivery vectors has vast potential for the treatment of many severe human diseases. A small group of intensively studied AAV capsids have b...
      Speaker: Dr. Samantha Yost
      Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
      4
      JUL 26, 2023 | 12:15 PM
      Advancing Protein Stabilization Therapeutic Development and DUBTAC Drug Discovery through Gene and Cell Engineering
      Advancing Protein Stabilization Therapeutic Development and DUBTAC...
      Genetically modified cell models accelerate the development of safe and effective therapeutics, making them indispensable in the quest for new drugs. Through manipulation of cell line geneti...
      Speaker: Dr. Yongli Shan
      Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
      4
    APR 02, 2024 | 8:00 AM
    Gaining multi-dimensional insights into cancer heterogeneity: Co-analysis of CTCs and ctDNA derived from a single liquid biopsy sample
    Gaining multi-dimensional insights into cancer heterogeneity:...
    Circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have each gained attention as promising liquid biopsy markers, offering molecular insights into cancer progression, overall s...
    Speaker: Yoon-Tae Kang, PhD , Abiodun Bodunrin, PhD
    Sponsored By: Bio-Rad Laboratories
    22
    MAR 27, 2024 | 9:00 AM
    PART 1: Utilizing the 6-base genome to investigate the dynamics of enhancer DNA methylation during cellular differentiation
    PART 1: Utilizing the 6-base genome to investigate the dynamics...
    Join Dr. Emily Hodges, assistant professor of biochemistry at Vanderbilt University, to learn more about how the Hodges Lab is utilizing the 6-base genome to investigate the dynamics of enha...
    Speaker: Dr. Emily Hodges
    Sponsored By: biomodal
    11
    MAR 26, 2024 | 7:00 PM
    C.E. CREDITS
    Educational Webinar: Implementation of a Preemptive Pharmacogenomics Program at a Pediatric Health System
    Educational Webinar: Implementation of a Preemptive Pharmacogenomics...
    The implementation of a preemptive pharmacogenomics (PGx) program in a hospital setting requires a multidisciplinary approach to ensure seamless integration of each stage of the process for...
    Speaker: Steven Melnick. Ph.D., M.D. , Dr. David Mancuso, Pharm.D. CPh , MSPM
    Sponsored By: Thermo Fisher Scientific
    16 1
    MAR 26, 2024 | 8:00 AM
    C.E. CREDITS
    Educational Webinar: Implementation of a Preemptive Pharmacogenomics Program at a Pediatric Health System
    Educational Webinar: Implementation of a Preemptive Pharmacogenomics...
    The implementation of a preemptive pharmacogenomics (PGx) program in a hospital setting requires a multidisciplinary approach to ensure seamless integration of each stage of the process for...
    Speaker: Steven Melnick. Ph.D., M.D. , Dr. David Mancuso, Pharm.D. CPh , MSPM
    Sponsored By: Thermo Fisher Scientific
    22
    JAN 31, 2024 | 11:00 AM
    Experience with the EPIC BeadChip in Human and Non-human Primates
    Experience with the EPIC BeadChip in Human and Non-human Primates
    ...
    Speaker: Timothy Howard, PhD
    Presented at: The Illumina Epigenetics Experience
    Sponsored By: Illumina
    3
     
     
  • JAN 31, 2024 | 10:00 AM
    Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors - A prospective study and guidelines for clinical testing
    Clinical utility of whole-genome DNA methylation profiling as...
    ...
    Speaker: Matija Snuderl, MD
    Presented at: The Illumina Epigenetics Experience
    Sponsored By: Illumina
    6
    JAN 16, 2024 | 8:00 AM
    Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
    Case studies: Real world examples of how labs can use HGMD Professional...
    The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whet...
    Speaker: Ana Krivokuca, PhD
    Sponsored By: QIAGEN
    35 1
    DEC 12, 2023 | 7:00 AM
    Roundtable: Non-invasive vs Invasive Preimplantation Genetic Testing (PGT)
    Roundtable: Non-invasive vs Invasive Preimplantation Genetic Testing...
    An estimated 48.5 million couples suffer from infertility worldwide, driving up usage of assisted reproductive technologies around the globe. As a result, preimplantation genetic testing (PG...
    Speaker: Anil Biricik, PhD , Sandrine Chamayou, PhD , Prof. Volkan Baltaci, MD, PhD , Alok Tomar, PhD
    Sponsored By: Thermo Fisher Scientific
    34
    DEC 07, 2023 | 8:00 AM
    Translating COSMIC's gold standard data into actionable insights
    Translating COSMIC's gold standard data into actionable insights
    As the vast landscape of genetic oncology continues to expand, the ability to understand and utilize the full potential of this rich data becomes increasingly challenging. As a result, resea...
    Speaker: Leonie Hodges , Alex Holmes, Ph.D. , Jennifer Wilding, Ph.D.
    Sponsored By: QIAGEN
    15
    NOV 30, 2023 | 12:00 PM
    C.E. CREDITS
    Revolutionizing Solid Tumor Management: Unleashing the Potential of Liquid Biopsy
    Revolutionizing Solid Tumor Management: Unleashing the Potential...
    Pathology Perspective: Discover the critical need for genomic testing in cancer and explore the differences between traditional tissue biopsies and liquid genomic profiling. We'll dive i...
    Speaker: Dr. Shuko Harada , Dr. Aakash Desai, MBBS, MPH
    Presented at: Precision Medicine in Solid Tumors
    5
     
     
  • NOV 29, 2023 | 9:00 AM
    Labcorp® Plasma Focus™
    Labcorp® Plasma Focus™
    Tumor genomic profiling can be complicated, especially for diseases that commonly have multiple different genomic biomarkers of interest, such as non-small cell lung cancer (NSCLC) and color...
    Speaker: Mark Sausen, PhD , Mohamad Khasawneh, MD
    Sponsored By: Labcorp Oncology
    21
    NOV 14, 2023 | 8:00 AM
    High-throughput RNA-Seq of clinical samples using Covaris AFA ultrasonication
    High-throughput RNA-Seq of clinical samples using Covaris AFA...
    RNA-Seq remains a critical and robust methodology in understanding cellular and organismal changes associated with development and disease. Advances in automation have helped reduce the cost...
    Speaker: Madan Ambavaram, Ph.D. , Stuart Levine, Ph.D.
    Sponsored By: Covaris
    12
    NOV 09, 2023 | 6:00 AM
    Using MERFISH to decode spatially regulated disease drivers in human heart and kidney disease
    Using MERFISH to decode spatially regulated disease drivers in...
    In this talk we will explore the application of Multiplexed Error-Robust Fluorescence in situ Hybridization (MERFISH) technology to decode spatially regulated disease drivers in human heart...
    Speaker: Christoph Kuppe, MD, MHBA
    Sponsored By: Vizgen
    8
    NOV 08, 2023 | 8:00 AM
    Time to revisit RNA preservation - Synergy Blood Collection Tube
    Time to revisit RNA preservation - Synergy Blood Collection Tube
    SiO2 Materials Science is a company with deep roots in materials science and engineering and a track record of innovative packaging products for pharmaceutical drugs. The company also manufa...
    Speaker: Chris Weikart, PhD , Ishfaq Maksud
    Sponsored By: SIO2 Materials Science
    8
    OCT 31, 2023 | 9:00 AM
    AAV Gene Therapy: A novel approach to AAV biopanning in human brain
    AAV Gene Therapy: A novel approach to AAV biopanning in human...
    Gene therapy holds potential for treating neurological diseases by delivering genetic information into specific cell types. However, selective and efficient targeting of cell types remains c...
    Speaker: Joshua Ortiz-Guzman, Ph.D.
    Sponsored By: Leica Microsystems
    11
     
     
  • OCT 24, 2023 | 9:00 AM
    Introducing a streamlined solution to capture superior multiomic information at single-base resolution from limited DNA
    Introducing a streamlined solution to capture superior multiomic...
    DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology in health and disease. The interaction of genetics with th...
    Speaker: Páidí Creed, Ph.D. , Nick Harding, Ph.D.
    Sponsored By: biomodal
    9
    OCT 24, 2023 | 8:00 AM
    Scaling Up Organoid Research: A New Approach with Assay-Ready Organoids
    Scaling Up Organoid Research: A New Approach with Assay-Ready...
    Organoids are three-dimensional (3D) multi-cellular, microtissues derived from stem cells that closely mimic the complex structure and functionality of human organs. They offer more accurate...
    Speaker: Angeline Lim , Andy Bashford
    Sponsored By: Molecular Devices
    9
    OCT 24, 2023 | 10:00 AM
    Scaling Up Organoid Research: A New Approach with Assay-Ready Organoids
    Scaling Up Organoid Research: A New Approach with Assay-Ready...
    Organoids are three-dimensional (3D) multi-cellular, microtissues derived from stem cells that closely mimic the complex structure and functionality of human organs. They offer more accurate...
    Speaker: Angeline Lim , Andy Bashford
    Sponsored By: Molecular Devices
    12
    OCT 11, 2023 | 9:00 PM
    Development of a Novel Targeted NGS Panel for Analysis of DNA Methylation Biomarkers in Lung Cancer Research
    Development of a Novel Targeted NGS Panel for Analysis of DNA...
    Epigenetic modifications such as DNA methylation have long shown promise as potential biomarkers to diagnose and guide treatment of many human diseases, including multiple types of cancers....
    Speaker: Dr. Lucia Anna Muscarella, Ph.D. , Dr. Cristina Guillén, Ph.D.
    Sponsored By: Thermo Fisher Scientific
    20
    OCT 05, 2023 | 1:00 AM
    C.E. CREDITS
    Upscaling Organoids: Automated solutions for high throughput cell applications
    Upscaling Organoids: Automated solutions for high throughput cell...
    Organoids continue to gain traction in drug discovery efforts as they offer a more biologically relevant disease model than traditional approaches. But they aren't without challenges. Jo...
    Speaker: Nathan Gödde , Mathilde Cordellier
    Sponsored By: Revvity
    21
     
     
  • AUG 01, 2023 | 10:00 AM
    Congenital CMV:  Standards of care, Knowledge Gaps, and a Story
    Congenital CMV: Standards of care, Knowledge Gaps, and a Story
    Human cytomegalovirus (CMV) infection is common and usually results in a mild, non-specific illness in otherwise healthy individuals followed by asymptomatic latency. However, congenital CMV...
    Speaker: Dr. Laura Gibson
    Sponsored By: Diasorin
    33
    JUL 26, 2023 | 3:10 PM
    Harnessing iNKT Cells for "Off-The-Shelf" Cancer Therapy
    Harnessing iNKT Cells for "Off-The-Shelf" Cancer Therapy
    Cell-based immunotherapy has become the new-generation cancer medicine, and “off-the-shelf” cell products that can be manufactured at large scale and distributed readily to treat...
    Speaker: Dr. Lili Yang
    Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
    4
    JUL 26, 2023 | 1:50 PM
    Characterization and biodistribution of REGENXBIO NAV® platform capsids: under-employed gene therapy vector AAV7
    Characterization and biodistribution of REGENXBIO NAV® platform...
    The use of adeno-associated viruses (AAV) as gene delivery vectors has vast potential for the treatment of many severe human diseases. A small group of intensively studied AAV capsids have b...
    Speaker: Dr. Samantha Yost
    Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
    4
    JUL 26, 2023 | 12:15 PM
    Advancing Protein Stabilization Therapeutic Development and DUBTAC Drug Discovery through Gene and Cell Engineering
    Advancing Protein Stabilization Therapeutic Development and DUBTAC...
    Genetically modified cell models accelerate the development of safe and effective therapeutics, making them indispensable in the quest for new drugs. Through manipulation of cell line geneti...
    Speaker: Dr. Yongli Shan
    Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
    4
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