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    Gene mutations

    Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.

    Webinars

    • NOV 15, 2018 | 4:00 AM
      Generation and application of 3D-organoid cell culture models using human induced pluripotent stem cells (iPSCs) for drug discovery
      Generation and application of 3D-organoid cell culture models...
      Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
      Speaker: Ryan Hicks
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      10 2
      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
      OCT 31, 2018 | 8:00 AM
      Chromatin immunoprecipitation: Five steps to great results
      Chromatin immunoprecipitation: Five steps to great results
      DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell.  ChI...
      Speaker: Eliza Small, PhD
      Sponsored By: Thermo Fisher Scientific
      10
      OCT 11, 2018 | 1:30 PM
      Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in Cancer
      Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in...
      Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
      Speaker: Martin Hirst, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      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 | 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 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
      AUG 09, 2018 | 8:00 AM
      Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
      Exon-level array: Bridging the gap between chromosomal microarray...
      DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
      Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      9
      AUG 07, 2018 | 8:00 AM
      Using Reference Standards to Validate your NGS Oncology Workflow
      Using Reference Standards to Validate your NGS Oncology Workflow
      DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
      Speaker: Hannah Child, PhD
      Sponsored By: Horizon Discovery
      10 1
      JUN 21, 2018 | 10:30 AM
      Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
      Setting Up Next-Generation Sequencing for the Needs of Routine...
      The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
      Speaker: Paul Hofman, MD, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      JUN 20, 2018 | 9:00 AM
      Identifying Driver Alterations and Therapeutic Options in Cancer
      Identifying Driver Alterations and Therapeutic Options in Cancer
      With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
      Speaker: Nikolaus Schultz, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      MAY 31, 2018 | 12:00 PM
      Cas9-Based Genome Engineering
      Cas9-Based Genome Engineering
      I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
      Speaker: Alejandro Chavez, MD, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      2
      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 | 7:30 AM
      Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
      Keynote Presentation: Molecular Testing for Hereditary-Familial...
      Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
      Speaker: Judd W Moul, MD, FACS
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      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 | 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 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 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 22, 2018 | 9:00 AM
      Investigating colorectal cancer using epithelial organoid cultures
      Investigating colorectal cancer using epithelial organoid cultures
      DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
      Speaker: Kai Kretzschmar, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      9 3
      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 18, 2018 | 8:00 AM
      Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
      Unravel the exome odyssey: overcome the challenges of exon-level...
      Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
      Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      8
      JAN 01, 2018 | 10:00 AM
      Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
      Disease modelling with human pluripotent stem cells: general principles...
      The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
      Speaker: Florian Merkle
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      DEC 01, 2017 | 12:00 AM
      Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
      Beyond Automated iPSC reprogramming: applications for a fully...
      The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
      Speaker: Daniel Paull
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      1
      NOV 29, 2017 | 10:00 AM
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
      Speaker: Adrienne Cox, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      7 2
    NOV 15, 2018 | 4:00 AM
    Generation and application of 3D-organoid cell culture models using human induced pluripotent stem cells (iPSCs) for drug discovery
    Generation and application of 3D-organoid cell culture models...
    Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
    Speaker: Ryan Hicks
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    10 2
    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
    OCT 31, 2018 | 8:00 AM
    Chromatin immunoprecipitation: Five steps to great results
    Chromatin immunoprecipitation: Five steps to great results
    DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell.  ChI...
    Speaker: Eliza Small, PhD
    Sponsored By: Thermo Fisher Scientific
    10
    OCT 11, 2018 | 1:30 PM
    Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in Cancer
    Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in...
    Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
    Speaker: Martin Hirst, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    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 | 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 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
    AUG 09, 2018 | 8:00 AM
    Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
    Exon-level array: Bridging the gap between chromosomal microarray...
    DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
    Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    9
    AUG 07, 2018 | 8:00 AM
    Using Reference Standards to Validate your NGS Oncology Workflow
    Using Reference Standards to Validate your NGS Oncology Workflow
    DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
    Speaker: Hannah Child, PhD
    Sponsored By: Horizon Discovery
    10 1
    JUN 21, 2018 | 10:30 AM
    Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
    Setting Up Next-Generation Sequencing for the Needs of Routine...
    The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
    Speaker: Paul Hofman, MD, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
     
     
  • JUN 20, 2018 | 9:00 AM
    Identifying Driver Alterations and Therapeutic Options in Cancer
    Identifying Driver Alterations and Therapeutic Options in Cancer
    With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
    Speaker: Nikolaus Schultz, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    MAY 31, 2018 | 12:00 PM
    Cas9-Based Genome Engineering
    Cas9-Based Genome Engineering
    I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
    Speaker: Alejandro Chavez, MD, PhD
    Presented at: Lab Automation Virtual Event Series 2018
    2
    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 | 7:30 AM
    Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
    Keynote Presentation: Molecular Testing for Hereditary-Familial...
    Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
    Speaker: Judd W Moul, MD, FACS
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    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 | 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 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 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 22, 2018 | 9:00 AM
    Investigating colorectal cancer using epithelial organoid cultures
    Investigating colorectal cancer using epithelial organoid cultures
    DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
    Speaker: Kai Kretzschmar, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    9 3
    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 18, 2018 | 8:00 AM
    Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
    Unravel the exome odyssey: overcome the challenges of exon-level...
    Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
    Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    8
    JAN 01, 2018 | 10:00 AM
    Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
    Disease modelling with human pluripotent stem cells: general principles...
    The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
    Speaker: Florian Merkle
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
    DEC 01, 2017 | 12:00 AM
    Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
    Beyond Automated iPSC reprogramming: applications for a fully...
    The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
    Speaker: Daniel Paull
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    1
    NOV 29, 2017 | 10:00 AM
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
    Speaker: Adrienne Cox, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    7 2
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