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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

    • MAY 09, 2018 | 6:00 AM
      C.E. CREDITS
      Point-of Care Genomics: A New Horizon in Personalized Healthcare
      Point-of Care Genomics: A New Horizon in Personalized Healthcare
      Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
      Speaker: Marcel Dinger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1 1
      APR 26, 2018 | 8:00 AM
      Pre-clinical T cell immunotherapy strategies for overcoming immunosuppression in solid tumors
      Pre-clinical T cell immunotherapy strategies for overcoming immunosuppression...
      DATE:  April 26, 2018TIME:  8:00am PST, 11:00am EST Engineered T cells expressing a tumor antigen-specific receptor have revolutionized the field of cancer therap...
      Speaker: Kristin Anderson, PhD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      5
      APR 12, 2018 | 12:00 PM
      Biomarkers to Discriminate Bacterial and Viral Infections
      Biomarkers to Discriminate Bacterial and Viral Infections
      Inappropriately prescribed antibacterials for viral respiratory illness contribute to increased healthcare costs, unnecessary drug-related adverse effects, and drive antimicrobial resistance....
      Speaker: Ephraim Tsalik, MD, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 12, 2018 | 10:30 AM
      The Genome in 3D: A Clinical Biomarker Platform
      The Genome in 3D: A Clinical Biomarker Platform
      In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
      Speaker: Kevin Little, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 12, 2018 | 9:00 AM
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
      This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
      Speaker: Francesco Lescai, PhD, EDBT
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      Sponsored By: QIAGEN Molecular Diagnostics
      1
      APR 12, 2018 | 9:00 AM
      DTC Genomic Testing - A Healthcare System Perspective
      DTC Genomic Testing - A Healthcare System Perspective
      Ready or not, direct-to-consumer (DTC) genetic testing is here and it is here to stay. As technologies continue to make genetic testing more affordable and accessible to the masses, more indi...
      Speaker: Amjaad Al-Hussain, MHSA
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 11, 2018 | 12:00 PM
      Emerging Trends: Cell Free (cf)DNA-Based Screening for Common Aneuploidies
      Emerging Trends: Cell Free (cf)DNA-Based Screening for Common...
      Screening for Down syndrome began with the question "How old will you be when you deliver?".  If the pregnant woman answered 35 years of age or older, she was offered amniocent...
      Speaker: Glenn Palomaki, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 01, 2018 | 12:00 AM
      Undiagnosed disease to rare disease discovery: Perspectives from a patient family
      Undiagnosed disease to rare disease discovery: Perspectives from...
      One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy?  ...
      Speaker: Gay Grossman
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      MAR 28, 2018 | 1:30 PM
      Leveraging Laboratory Information Management Systems (LIMS) to Provide Standardization, Efficiency and Cost Savings
      Leveraging Laboratory Information Management Systems (LIMS) to...
      In today’s modern laboratory, resources are often stretched as laboratories struggle to manage multiple priorities, meet regulatory requirements, and contain costs. This is especially t...
      Speaker: Christine Paszko, PhD, MT (ASCP)
      Presented at: Cannabis Sciences Virtual Event Series 2018
      2
      MAR 28, 2018 | 10:30 AM
      Panel Discussion: Medical Cannabis in Pediatrics
      Panel Discussion: Medical Cannabis in Pediatrics
      In this panel discussion, parents of children using cannabis discuss their experience Herah Osborne: A mother’s story about her journey with her twins having Fragile X syndrome an...
      Speaker: Kenton Crowley, Pharm. D., FAARFM, ABAAHP , Sebastien Cotte , Janie Maedler , Herah Osborne
      Presented at: Cannabis Sciences Virtual Event Series 2018
      3
      MAR 15, 2018 | 1:30 PM
      Rare Inherited Mutations in Autism Spectrum Disorder
      Rare Inherited Mutations in Autism Spectrum Disorder
      Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
      Speaker: Maria Chahrour, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      2
      MAR 15, 2018 | 12:00 PM
      Tough Targets, Simple Genotyping -Fast and Easy Protocols to Determine SMN1 and SMN2 Copy Number and APOE Allele Identification
      Tough Targets, Simple Genotyping -Fast and Easy Protocols to Determine...
      Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atro...
      Speaker: Ryan Donnelly
      Presented at: Neuroscience Virtual Event Series 2018
      Sponsored By: Canon BioMedical
      2
      MAR 15, 2018 | 10:30 AM
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
      The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
      Speaker: Jill Weimer, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 15, 2018 | 10:30 AM
      An Emerging Role of DNA Damage-Repair in Huntington's Disease
      An Emerging Role of DNA Damage-Repair in Huntington's Disease
      Machine learning approaches to pattern discovery in protein-protein interaction networks of Huntington’s disease brain and model organisms are revealing novel connections of the disease...
      Speaker: Animesh Ray, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      2
      MAR 14, 2018 | 12:00 PM
      Deciphering the Complexities of Neurodegeneration and Neuroinflammation with Gene Expression Profiling
      Deciphering the Complexities of Neurodegeneration and Neuroinflammation...
      Some of the most significant hurdles faced by neuroscientists in the field of neurodegenerative disease research when seeking to acquire genetic information include sample accessibility, repr...
      Speaker: Kelly Miller, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      Sponsored By: NanoString Technologies
      1
      MAR 14, 2018 | 10:30 AM
      CRISPR and ZFN Mediated Gene Editing for the Exploration of Neural Cell Mechanisms and Modeling
      CRISPR and ZFN Mediated Gene Editing for the Exploration of Neural...
      CRISPR Cas9 nucleases have revolutionized gene editing enabling unprecedented efficiency of targeted mutagenesis.   Even with such powerful technology at hand, sophisticated projects, su...
      Speaker: Jeremy Lehmann
      Presented at: Neuroscience Virtual Event Series 2018
      Sponsored By: MilliporeSigma
      1
      MAR 14, 2018 | 10:30 AM
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
      Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 14, 2018 | 9:00 AM
      3D Dilemma of This Century
      3D Dilemma of This Century
      Most neuropsychiatric diseases involve multifactorial systems characterized by complex interactions among genetic predisposition/resiliency, environmental/social determinants, molecular seque...
      Speaker: Natalie Rasgon, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1 1
      MAR 01, 2018 | 12:00 AM
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
      Speaker: William Hendriks
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      FEB 28, 2018 | 12:00 AM
      Improved Neuronal Performance with the Gibco B-27 Plus Culture System
      Improved Neuronal Performance with the Gibco B-27 Plus Culture...
      TBD...
      Speaker: David Kuninger, PhD
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      FEB 21, 2018 | 12:00 PM
      Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
      Allosteric Modulation of Metabotropic Glutamate Receptors for...
      Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
      Speaker: Colleen Niswender, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      JAN 30, 2018 | 9:00 AM
      WEBINAR: Metagenomics and base modifications from long, short, and linked-reads
      WEBINAR: Metagenomics and base modifications from long, short,...
      DATE: January 30, 2018TIME: 9:00AM PST, 12:00PM ESTInfectious disease surveillance and monitoring is critical in settings where disease outbreaks and antibiotic resistance can dramatica...
      Speaker: Christopher Mason, PhD , Shuiquan Tang, PhD
      Sponsored By: Zymo Research
      6 1
      JAN 25, 2018 | 10:00 AM
      WEBINAR:  Engineered Viruses as Precision Cancer Therapeutics
      WEBINAR: Engineered Viruses as Precision Cancer Therapeutics
      DATE: January 25, 2018TIME: 10:00am PST, 1:00pm EST, 6:00pm GMTOncolytic virotherapy, the use of viral vectors to treat cancer, holds huge promise. Viruses are natural DNA delivery vehi...
      Speaker: Alexander Baker, MSci (Hons), 1st Class
      Sponsored By: Thermo Fisher Scientific/Gibco
      12
      JAN 25, 2018 | 8:00 AM
      WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profiler™ Arrays
      WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
      DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
      Speaker: Xin Lu, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      6
    MAY 09, 2018 | 6:00 AM
    C.E. CREDITS
    Point-of Care Genomics: A New Horizon in Personalized Healthcare
    Point-of Care Genomics: A New Horizon in Personalized Healthcare
    Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
    Speaker: Marcel Dinger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1 1
    APR 26, 2018 | 8:00 AM
    Pre-clinical T cell immunotherapy strategies for overcoming immunosuppression in solid tumors
    Pre-clinical T cell immunotherapy strategies for overcoming immunosuppression...
    DATE:  April 26, 2018TIME:  8:00am PST, 11:00am EST Engineered T cells expressing a tumor antigen-specific receptor have revolutionized the field of cancer therap...
    Speaker: Kristin Anderson, PhD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    5
    APR 12, 2018 | 12:00 PM
    Biomarkers to Discriminate Bacterial and Viral Infections
    Biomarkers to Discriminate Bacterial and Viral Infections
    Inappropriately prescribed antibacterials for viral respiratory illness contribute to increased healthcare costs, unnecessary drug-related adverse effects, and drive antimicrobial resistance....
    Speaker: Ephraim Tsalik, MD, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 12, 2018 | 10:30 AM
    The Genome in 3D: A Clinical Biomarker Platform
    The Genome in 3D: A Clinical Biomarker Platform
    In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
    Speaker: Kevin Little, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 12, 2018 | 9:00 AM
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
    This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
    Speaker: Francesco Lescai, PhD, EDBT
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    Sponsored By: QIAGEN Molecular Diagnostics
    1
     
     
  • APR 12, 2018 | 9:00 AM
    DTC Genomic Testing - A Healthcare System Perspective
    DTC Genomic Testing - A Healthcare System Perspective
    Ready or not, direct-to-consumer (DTC) genetic testing is here and it is here to stay. As technologies continue to make genetic testing more affordable and accessible to the masses, more indi...
    Speaker: Amjaad Al-Hussain, MHSA
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 11, 2018 | 12:00 PM
    Emerging Trends: Cell Free (cf)DNA-Based Screening for Common Aneuploidies
    Emerging Trends: Cell Free (cf)DNA-Based Screening for Common...
    Screening for Down syndrome began with the question "How old will you be when you deliver?".  If the pregnant woman answered 35 years of age or older, she was offered amniocent...
    Speaker: Glenn Palomaki, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 01, 2018 | 12:00 AM
    Undiagnosed disease to rare disease discovery: Perspectives from a patient family
    Undiagnosed disease to rare disease discovery: Perspectives from...
    One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy?  ...
    Speaker: Gay Grossman
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
    MAR 28, 2018 | 1:30 PM
    Leveraging Laboratory Information Management Systems (LIMS) to Provide Standardization, Efficiency and Cost Savings
    Leveraging Laboratory Information Management Systems (LIMS) to...
    In today’s modern laboratory, resources are often stretched as laboratories struggle to manage multiple priorities, meet regulatory requirements, and contain costs. This is especially t...
    Speaker: Christine Paszko, PhD, MT (ASCP)
    Presented at: Cannabis Sciences Virtual Event Series 2018
    2
    MAR 28, 2018 | 10:30 AM
    Panel Discussion: Medical Cannabis in Pediatrics
    Panel Discussion: Medical Cannabis in Pediatrics
    In this panel discussion, parents of children using cannabis discuss their experience Herah Osborne: A mother’s story about her journey with her twins having Fragile X syndrome an...
    Speaker: Kenton Crowley, Pharm. D., FAARFM, ABAAHP , Sebastien Cotte , Janie Maedler , Herah Osborne
    Presented at: Cannabis Sciences Virtual Event Series 2018
    3
     
     
  • MAR 15, 2018 | 1:30 PM
    Rare Inherited Mutations in Autism Spectrum Disorder
    Rare Inherited Mutations in Autism Spectrum Disorder
    Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
    Speaker: Maria Chahrour, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    2
    MAR 15, 2018 | 12:00 PM
    Tough Targets, Simple Genotyping -Fast and Easy Protocols to Determine SMN1 and SMN2 Copy Number and APOE Allele Identification
    Tough Targets, Simple Genotyping -Fast and Easy Protocols to Determine...
    Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atro...
    Speaker: Ryan Donnelly
    Presented at: Neuroscience Virtual Event Series 2018
    Sponsored By: Canon BioMedical
    2
    MAR 15, 2018 | 10:30 AM
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
    The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
    Speaker: Jill Weimer, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
    MAR 15, 2018 | 10:30 AM
    An Emerging Role of DNA Damage-Repair in Huntington's Disease
    An Emerging Role of DNA Damage-Repair in Huntington's Disease
    Machine learning approaches to pattern discovery in protein-protein interaction networks of Huntington’s disease brain and model organisms are revealing novel connections of the disease...
    Speaker: Animesh Ray, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    2
    MAR 14, 2018 | 12:00 PM
    Deciphering the Complexities of Neurodegeneration and Neuroinflammation with Gene Expression Profiling
    Deciphering the Complexities of Neurodegeneration and Neuroinflammation...
    Some of the most significant hurdles faced by neuroscientists in the field of neurodegenerative disease research when seeking to acquire genetic information include sample accessibility, repr...
    Speaker: Kelly Miller, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    Sponsored By: NanoString Technologies
    1
     
     
  • MAR 14, 2018 | 10:30 AM
    CRISPR and ZFN Mediated Gene Editing for the Exploration of Neural Cell Mechanisms and Modeling
    CRISPR and ZFN Mediated Gene Editing for the Exploration of Neural...
    CRISPR Cas9 nucleases have revolutionized gene editing enabling unprecedented efficiency of targeted mutagenesis.   Even with such powerful technology at hand, sophisticated projects, su...
    Speaker: Jeremy Lehmann
    Presented at: Neuroscience Virtual Event Series 2018
    Sponsored By: MilliporeSigma
    1
    MAR 14, 2018 | 10:30 AM
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
    Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
    MAR 14, 2018 | 9:00 AM
    3D Dilemma of This Century
    3D Dilemma of This Century
    Most neuropsychiatric diseases involve multifactorial systems characterized by complex interactions among genetic predisposition/resiliency, environmental/social determinants, molecular seque...
    Speaker: Natalie Rasgon, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1 1
    MAR 01, 2018 | 12:00 AM
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
    Speaker: William Hendriks
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
    FEB 28, 2018 | 12:00 AM
    Improved Neuronal Performance with the Gibco B-27 Plus Culture System
    Improved Neuronal Performance with the Gibco B-27 Plus Culture...
    TBD...
    Speaker: David Kuninger, PhD
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
     
     
  • FEB 21, 2018 | 12:00 PM
    Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
    Allosteric Modulation of Metabotropic Glutamate Receptors for...
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
    Speaker: Colleen Niswender, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    JAN 30, 2018 | 9:00 AM
    WEBINAR: Metagenomics and base modifications from long, short, and linked-reads
    WEBINAR: Metagenomics and base modifications from long, short,...
    DATE: January 30, 2018TIME: 9:00AM PST, 12:00PM ESTInfectious disease surveillance and monitoring is critical in settings where disease outbreaks and antibiotic resistance can dramatica...
    Speaker: Christopher Mason, PhD , Shuiquan Tang, PhD
    Sponsored By: Zymo Research
    6 1
    JAN 25, 2018 | 10:00 AM
    WEBINAR:  Engineered Viruses as Precision Cancer Therapeutics
    WEBINAR: Engineered Viruses as Precision Cancer Therapeutics
    DATE: January 25, 2018TIME: 10:00am PST, 1:00pm EST, 6:00pm GMTOncolytic virotherapy, the use of viral vectors to treat cancer, holds huge promise. Viruses are natural DNA delivery vehi...
    Speaker: Alexander Baker, MSci (Hons), 1st Class
    Sponsored By: Thermo Fisher Scientific/Gibco
    12
    JAN 25, 2018 | 8:00 AM
    WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profiler™ Arrays
    WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
    DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
    Speaker: Xin Lu, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    6
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