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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

    • NOV 15, 2018 | 7:00 AM
      Use of stem-cell derived endothelial cells for disease relevant cell modeling and drug discovery
      Use of stem-cell derived endothelial cells for disease relevant...
      The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
      Speaker: Filip Roudnicky
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      8
      NOV 14, 2018 | 3:00 PM
      Modeling Inflammation and Fibrosis in Humans with PSC-derived Steatohepatitis Liver Organoids
      Modeling Inflammation and Fibrosis in Humans with PSC-derived...
      Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
      Speaker: Takanori Takebe
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      8
      NOV 14, 2018 | 12:00 PM
      Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments
      Automated Variant Classification in QIAGEN Clinical Insight Shows...
      As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
      Speaker: Jennifer Poitras, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      NOV 14, 2018 | 9:00 AM
      Accelerating Cancer Research and Clinical Innovations Using OncoLand
      Accelerating Cancer Research and Clinical Innovations Using OncoLand
      With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
      Speaker: Bing Zhou, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      NOV 07, 2018 | 8:00 PM
      Analysis of Surface Antigens on Exosomes
      Analysis of Surface Antigens on Exosomes
      DATE: November 7, 2018TIME: 8:00PM PSTExosomes have been shown to have significant roles in cancer including disease progression acting in the tumor micro-environment, metasta...
      Speaker: Steve McClellan BS, MT, SCYM (ASCP)CM
      Sponsored By: Thermo Fisher Scientific
      3 1
      NOV 07, 2018 | 7:00 AM
      Analysis of Surface Antigens on Exosomes
      Analysis of Surface Antigens on Exosomes
      DATE: November 7, 2018TIME: 7:00AM PDTExosomes have been shown to have significant roles in cancer including disease progression acting in the tumor micro-environment, metastasis a...
      Speaker: Steve McClellan BS, MT, SCYM (ASCP)CM
      Sponsored By: Thermo Fisher Scientific
      11 1
      OCT 23, 2018 | 10:00 AM
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
      DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
      Speaker: Scott Newman, PhD , Clay McLeod
      Sponsored By: DNAnexus
      5
      OCT 23, 2018 | 9:00 AM
      Chicago® and Dovetail™ Hi-C yield chromosome length scaffolds of the Ixodes scapularis genome
      Chicago® and Dovetail™ Hi-C yield chromosome length scaffolds...
      DATE: October 23, 2018TIME: 9:00AM PDTIxodes scapularis is the principal vector of the Lyme disease spirochete, Borrelia burgdorferi. I. scapularis genome was the first and only...
      Speaker: Monika Gulia-Nuss
      Sponsored By: Dovetail Genomics
      5
      OCT 11, 2018 | 1:30 PM
      Breast Cancer as a Global Disease: Are We Up to The Challenge?
      Breast Cancer as a Global Disease: Are We Up to The Challenge?
      As the most common female malignancy, breast cancer is the most likely reason that a woman will die of cancer around the world. Breast cancer mortality has dropped in the U.S. by 35% since 19...
      Speaker: Benjamin Anderson, MD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      3
      OCT 11, 2018 | 12:00 PM
      Lung Cancer Evolution and Immune Escape
      Lung Cancer Evolution and Immune Escape
      Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
      Speaker: Nicholas McGranahan, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 11, 2018 | 12:00 PM
      Aurora Kinase A Drives The Evolution of Resistance to Third Generation EGFR Inhibitors in Lung Cancer
      Aurora Kinase A Drives The Evolution of Resistance to Third Generation...
      Although targeted therapies often elicit profound initial patient responses, these effects are transient due to residual disease leading to acquired resistance. How tumors transition between...
      Speaker: Khyati Shah, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 11, 2018 | 10:30 AM
      Drug Targeting for Inflammatory Breast Cancer
      Drug Targeting for Inflammatory Breast Cancer
      Two projects looking at novel approaches to targeting inflammatory breast cancer will be presented. Inflammatory breast cancer (IBC) is a unique, understudied, and most lethal subtype account...
      Speaker: Kevin Williams, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      2
      OCT 11, 2018 | 9:00 AM
      Destabilization and Degradation of MYC: More Ways Than One
      Destabilization and Degradation of MYC: More Ways Than One
      The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
      Speaker: Jason De Melo, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 11, 2018 | 7:30 AM
      Keynote Presentation: In Advanced Cancers Curative Therapies Must Target All Cancer Cells
      Keynote Presentation: In Advanced Cancers Curative Therapies Must...
      In the past two decades a small number of infrequently dividing cells have been proposed as the source of multi-drug resistance during cancer treatment. These cells identified by their expres...
      Speaker: Krastan Blagoev, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 10, 2018 | 10:30 AM
      Microbiome Signatures in Gynecologic Cancers
      Microbiome Signatures in Gynecologic Cancers
      The microbiome signatures in the context of gynecologic cancers (endometrial and ovarian) and the potential for their clinical use will be discussed. The use of microfluidic technologies to i...
      Speaker: Marina Walther-Antonio, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      3
      OCT 10, 2018 | 10:30 AM
      Metabolic Networks in the Tumor Microenvironment
      Metabolic Networks in the Tumor Microenvironment
      Pancreatic tumors are dynamic pseudo-organs that contain numerous cell types interacting to create unique physiology. A typical pancreatic tumor is made up largely of stromal fibroblasts and...
      Speaker: Costas A. Lyssiotis, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      Sponsored By: Agilent
      2
      OCT 10, 2018 | 9:00 AM
      Understanding Cancer Through Whole-Genome Screening
      Understanding Cancer Through Whole-Genome Screening
      High-throughput screening is widely useful in identifying genes and pathways that drive changes in cell behavior such as cell cycle regulation, metastasis, and drug resistance.  Millipor...
      Speaker: Andrew Ravanelli, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      Sponsored By: MilliporeSigma
      5
      OCT 10, 2018 | 6:00 AM
      The Role of Vaccination for the Treatment and Prevention of Breast and Ovarian Cancers
      The Role of Vaccination for the Treatment and Prevention of Breast...
      With over 265,000 new cases per year and over 50,000 deaths, breast and ovarian cancers represent a significant health burden in the USA.  Prior work has demonstrated that CD4 helper T c...
      Speaker: Keith Knutson, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      6
      OCT 03, 2018 | 12:00 PM
      Using CRISPR and Stem Cells to Treat Genetic Disease
      Using CRISPR and Stem Cells to Treat Genetic Disease
      Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy.  Dominant negative mutations are pa...
      Speaker: Bruce Conklin, MD
      Presented at: CRISPR Virtual Event Series 2018
      1
      OCT 03, 2018 | 10:30 AM
      Integrating Novel Advances in Gene Delivery and Genome Engineering for Therapeutic Application
      Integrating Novel Advances in Gene Delivery and Genome Engineering...
      There have been an increasing number of successful human gene therapy clinical trials, and in particular gene delivery vehicles or vectors based on the adeno-associated virus (AAV) have enabl...
      Speaker: David Schaffer, PhD
      Presented at: CRISPR Virtual Event Series 2018
      2
      OCT 03, 2018 | 6:00 AM
      Identification of Pre-existing Adaptive Immune Responses to Cas9 in Humans
      Identification of Pre-existing Adaptive Immune Responses to Cas9...
      The CRISPR-Cas9 system has proven to be a powerful tool for genome editing allowing for the precise modification of specific DNA sequences within a cell. Many efforts are currently underway t...
      Speaker: Carsten Charlesworth, PhD
      Presented at: CRISPR Virtual Event Series 2018
      2
      SEP 27, 2018 | 1:30 PM
      Cilia Abnormalities and Developmental Defects in Lowe Syndrome
      Cilia Abnormalities and Developmental Defects in Lowe Syndrome
      Lowe Syndrome (LS) is a devastating genetic disease characterized by abnormalities in the eyes, brain and kidneys that unfortunately leads to the premature death of affected children due to r...
      Speaker: R. Claudio Aguilar, PhD
      Presented at: Cell Biology Virtual Event Series 2018
      2
      SEP 26, 2018 | 7:30 AM
      Keynote Presentation: Molecular Mechanisms of Gene X Environment Interactions: Possible Relevance for Prevention, Diagnosis and Treatment of Psychiatric Disorders
      Keynote Presentation: Molecular Mechanisms of Gene X Environment...
      Early adverse exposures, such as maternal stress during pregnancy and child abuse, are thought to result in long-lasting consequences on neural circuit function and stress hormone regulation...
      Speaker: Elisabeth Binder, PhD
      Presented at: Cell Biology Virtual Event Series 2018
      1
      SEP 18, 2018 | 8:00 AM
      High-throughput CRISPR-Cas9 Genome Engineering in Primary T Cells
      High-throughput CRISPR-Cas9 Genome Engineering in Primary T Cells
      DATE: September 18,2018TIME: 08:00am PDT, 11:00am EDT CRISPR-Cas9 gene editing strategies have revolutionized our ability to engineer the genomes of diverse cell types and sp...
      Speaker: Judd Hultquist, PhD
      Sponsored By: Horizon Discovery
      7
    NOV 15, 2018 | 7:00 AM
    Use of stem-cell derived endothelial cells for disease relevant cell modeling and drug discovery
    Use of stem-cell derived endothelial cells for disease relevant...
    The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
    Speaker: Filip Roudnicky
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    8
    NOV 14, 2018 | 3:00 PM
    Modeling Inflammation and Fibrosis in Humans with PSC-derived Steatohepatitis Liver Organoids
    Modeling Inflammation and Fibrosis in Humans with PSC-derived...
    Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
    Speaker: Takanori Takebe
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    8
    NOV 14, 2018 | 12:00 PM
    Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments
    Automated Variant Classification in QIAGEN Clinical Insight Shows...
    As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    NOV 14, 2018 | 9:00 AM
    Accelerating Cancer Research and Clinical Innovations Using OncoLand
    Accelerating Cancer Research and Clinical Innovations Using OncoLand
    With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
    Speaker: Bing Zhou, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    NOV 07, 2018 | 8:00 PM
    Analysis of Surface Antigens on Exosomes
    Analysis of Surface Antigens on Exosomes
    DATE: November 7, 2018TIME: 8:00PM PSTExosomes have been shown to have significant roles in cancer including disease progression acting in the tumor micro-environment, metasta...
    Speaker: Steve McClellan BS, MT, SCYM (ASCP)CM
    Sponsored By: Thermo Fisher Scientific
    3 1
     
     
  • NOV 07, 2018 | 7:00 AM
    Analysis of Surface Antigens on Exosomes
    Analysis of Surface Antigens on Exosomes
    DATE: November 7, 2018TIME: 7:00AM PDTExosomes have been shown to have significant roles in cancer including disease progression acting in the tumor micro-environment, metastasis a...
    Speaker: Steve McClellan BS, MT, SCYM (ASCP)CM
    Sponsored By: Thermo Fisher Scientific
    11 1
    OCT 23, 2018 | 10:00 AM
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
    DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
    Speaker: Scott Newman, PhD , Clay McLeod
    Sponsored By: DNAnexus
    5
    OCT 23, 2018 | 9:00 AM
    Chicago® and Dovetail™ Hi-C yield chromosome length scaffolds of the Ixodes scapularis genome
    Chicago® and Dovetail™ Hi-C yield chromosome length scaffolds...
    DATE: October 23, 2018TIME: 9:00AM PDTIxodes scapularis is the principal vector of the Lyme disease spirochete, Borrelia burgdorferi. I. scapularis genome was the first and only...
    Speaker: Monika Gulia-Nuss
    Sponsored By: Dovetail Genomics
    5
    OCT 11, 2018 | 1:30 PM
    Breast Cancer as a Global Disease: Are We Up to The Challenge?
    Breast Cancer as a Global Disease: Are We Up to The Challenge?
    As the most common female malignancy, breast cancer is the most likely reason that a woman will die of cancer around the world. Breast cancer mortality has dropped in the U.S. by 35% since 19...
    Speaker: Benjamin Anderson, MD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    3
    OCT 11, 2018 | 12:00 PM
    Lung Cancer Evolution and Immune Escape
    Lung Cancer Evolution and Immune Escape
    Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
    Speaker: Nicholas McGranahan, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
     
     
  • OCT 11, 2018 | 12:00 PM
    Aurora Kinase A Drives The Evolution of Resistance to Third Generation EGFR Inhibitors in Lung Cancer
    Aurora Kinase A Drives The Evolution of Resistance to Third Generation...
    Although targeted therapies often elicit profound initial patient responses, these effects are transient due to residual disease leading to acquired resistance. How tumors transition between...
    Speaker: Khyati Shah, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    OCT 11, 2018 | 10:30 AM
    Drug Targeting for Inflammatory Breast Cancer
    Drug Targeting for Inflammatory Breast Cancer
    Two projects looking at novel approaches to targeting inflammatory breast cancer will be presented. Inflammatory breast cancer (IBC) is a unique, understudied, and most lethal subtype account...
    Speaker: Kevin Williams, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    2
    OCT 11, 2018 | 9:00 AM
    Destabilization and Degradation of MYC: More Ways Than One
    Destabilization and Degradation of MYC: More Ways Than One
    The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
    Speaker: Jason De Melo, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    OCT 11, 2018 | 7:30 AM
    Keynote Presentation: In Advanced Cancers Curative Therapies Must Target All Cancer Cells
    Keynote Presentation: In Advanced Cancers Curative Therapies Must...
    In the past two decades a small number of infrequently dividing cells have been proposed as the source of multi-drug resistance during cancer treatment. These cells identified by their expres...
    Speaker: Krastan Blagoev, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    OCT 10, 2018 | 10:30 AM
    Microbiome Signatures in Gynecologic Cancers
    Microbiome Signatures in Gynecologic Cancers
    The microbiome signatures in the context of gynecologic cancers (endometrial and ovarian) and the potential for their clinical use will be discussed. The use of microfluidic technologies to i...
    Speaker: Marina Walther-Antonio, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    3
     
     
  • OCT 10, 2018 | 10:30 AM
    Metabolic Networks in the Tumor Microenvironment
    Metabolic Networks in the Tumor Microenvironment
    Pancreatic tumors are dynamic pseudo-organs that contain numerous cell types interacting to create unique physiology. A typical pancreatic tumor is made up largely of stromal fibroblasts and...
    Speaker: Costas A. Lyssiotis, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    Sponsored By: Agilent
    2
    OCT 10, 2018 | 9:00 AM
    Understanding Cancer Through Whole-Genome Screening
    Understanding Cancer Through Whole-Genome Screening
    High-throughput screening is widely useful in identifying genes and pathways that drive changes in cell behavior such as cell cycle regulation, metastasis, and drug resistance.  Millipor...
    Speaker: Andrew Ravanelli, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    Sponsored By: MilliporeSigma
    5
    OCT 10, 2018 | 6:00 AM
    The Role of Vaccination for the Treatment and Prevention of Breast and Ovarian Cancers
    The Role of Vaccination for the Treatment and Prevention of Breast...
    With over 265,000 new cases per year and over 50,000 deaths, breast and ovarian cancers represent a significant health burden in the USA.  Prior work has demonstrated that CD4 helper T c...
    Speaker: Keith Knutson, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    6
    OCT 03, 2018 | 12:00 PM
    Using CRISPR and Stem Cells to Treat Genetic Disease
    Using CRISPR and Stem Cells to Treat Genetic Disease
    Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy.  Dominant negative mutations are pa...
    Speaker: Bruce Conklin, MD
    Presented at: CRISPR Virtual Event Series 2018
    1
    OCT 03, 2018 | 10:30 AM
    Integrating Novel Advances in Gene Delivery and Genome Engineering for Therapeutic Application
    Integrating Novel Advances in Gene Delivery and Genome Engineering...
    There have been an increasing number of successful human gene therapy clinical trials, and in particular gene delivery vehicles or vectors based on the adeno-associated virus (AAV) have enabl...
    Speaker: David Schaffer, PhD
    Presented at: CRISPR Virtual Event Series 2018
    2
     
     
  • OCT 03, 2018 | 6:00 AM
    Identification of Pre-existing Adaptive Immune Responses to Cas9 in Humans
    Identification of Pre-existing Adaptive Immune Responses to Cas9...
    The CRISPR-Cas9 system has proven to be a powerful tool for genome editing allowing for the precise modification of specific DNA sequences within a cell. Many efforts are currently underway t...
    Speaker: Carsten Charlesworth, PhD
    Presented at: CRISPR Virtual Event Series 2018
    2
    SEP 27, 2018 | 1:30 PM
    Cilia Abnormalities and Developmental Defects in Lowe Syndrome
    Cilia Abnormalities and Developmental Defects in Lowe Syndrome
    Lowe Syndrome (LS) is a devastating genetic disease characterized by abnormalities in the eyes, brain and kidneys that unfortunately leads to the premature death of affected children due to r...
    Speaker: R. Claudio Aguilar, PhD
    Presented at: Cell Biology Virtual Event Series 2018
    2
    SEP 26, 2018 | 7:30 AM
    Keynote Presentation: Molecular Mechanisms of Gene X Environment Interactions: Possible Relevance for Prevention, Diagnosis and Treatment of Psychiatric Disorders
    Keynote Presentation: Molecular Mechanisms of Gene X Environment...
    Early adverse exposures, such as maternal stress during pregnancy and child abuse, are thought to result in long-lasting consequences on neural circuit function and stress hormone regulation...
    Speaker: Elisabeth Binder, PhD
    Presented at: Cell Biology Virtual Event Series 2018
    1
    SEP 18, 2018 | 8:00 AM
    High-throughput CRISPR-Cas9 Genome Engineering in Primary T Cells
    High-throughput CRISPR-Cas9 Genome Engineering in Primary T Cells
    DATE: September 18,2018TIME: 08:00am PDT, 11:00am EDT CRISPR-Cas9 gene editing strategies have revolutionized our ability to engineer the genomes of diverse cell types and sp...
    Speaker: Judd Hultquist, PhD
    Sponsored By: Horizon Discovery
    7
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