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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • OCT 12, 2017 | 9:00 AM
      Profiling the cell surface of cancer cell lines for biomarker/drug target discovery using MS-based proteomics
      Profiling the cell surface of cancer cell lines for biomarker/drug...
      In order to expand the treatment options of cancers driven by oncogenic RAS, new cell surface targets need to be identified and characterized. Here, we describe mass spectrometry based phenot...
      Speaker: Josip Blonder, MD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      3
      OCT 12, 2017 | 6:00 AM
      Inference of gene signatures associated with response and resistance to targeted and immunotherapies
      Inference of gene signatures associated with response and resistance...
      We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
      Speaker: Xiaole Shirley Liu, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      OCT 11, 2017 | 12:00 PM
      Examining Cancer with the minION: Methylation and Structural Variation
      Examining Cancer with the minION: Methylation and Structural Variation
      Nanopore sequencing has enormous potential for application to cancer, but specifically offers advantages into two main arenas, epigenetics and structural variation. Methylation is well-known...
      Speaker: Winston Timp, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      Sponsored By: Oxford Nanopore Technologies
      1
      OCT 11, 2017 | 6:00 AM
      A Pan-Cancer view of gene expression in Immuno-Oncology with particular applications in ovarian cancer
      A Pan-Cancer view of gene expression in Immuno-Oncology with particular...
      There has been a great deal of renewed attention in immuno-oncology over the last decade.   Therapies for cancer are being developed, approved, and administered that can either initiate,...
      Speaker: Wendell Jones, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      2
      SEP 27, 2017 | 12:00 PM
      Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
      Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
      Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond. Recent studies show that response to checkpoint blockade does not...
      Speaker: Joshua Brody, MD
      Presented at: Cell Biology Virtual Event Series 2017
      2
      SEP 27, 2017 | 12:00 PM
      CRISPR-Cas9 genome engineering: Experimental Design and Applications
      CRISPR-Cas9 genome engineering: Experimental Design and Applications
      The manipulation of the genome to study disease, evaluate drug targets and to stratify patient populations is now a widely accepted concept in the field. At Horizon Discovery, genome engineer...
      Speaker: Danielle Folkard
      Presented at: Cell Biology Virtual Event Series 2017
      Sponsored By: Horizon Discovery
      2
      SEP 19, 2017 | 10:30 AM
      WEBINAR: Structure and Function of Epigenetic Regulators in Human Disease
      WEBINAR: Structure and Function of Epigenetic Regulators in Human...
      DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
      Speaker: Cigall Kadoch, PhD , Chris Fry, PhD
      Sponsored By: Cell Signaling Technology
      9 1
      SEP 14, 2017 | 7:30 AM
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
      Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
      Speaker: Neil Osheroff, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
      AUG 01, 2017 | 12:00 AM
      Accelerating cures for rare childhood diseases using iPSC models
      Accelerating cures for rare childhood diseases using iPSC models
      Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
      Speaker: Christina Waters
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      JUL 21, 2017 | 10:00 AM
      WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
      WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
      DATE: July 21, 2017TIME: 10:00am PT, 1:00pm ETCRISPR/Cas9 techniques are quickly growing in popularity for the generation of new mouse models for research. Though the approach is relati...
      Speaker: David Grass, PhD
      Sponsored By: The Jackson Laboratory (JAX)
      10
      JUL 01, 2017 | 8:00 AM
      iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
      iPSC-derived neural cells for drug discovery of mitochondrial...
      Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
      Speaker: Alessandro Prigione
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      JUL 01, 2017 | 8:00 AM
      Patient-specific hiPSCs for understanding diabetes disease mechanisms
      Patient-specific hiPSCs for understanding diabetes disease mechanisms
      Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
      Speaker: Adrian Teo
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      3
      JUL 01, 2017 | 12:00 AM
      Pluripotent stem cells to explore mechanisms and treatments of neuromuscular diseases
      Pluripotent stem cells to explore mechanisms and treatments of...
      Disease-specific human pluripotent stem cells (hPSCs) represent a new chance to unravel cellular and molecular mechanisms of neurological diseases. Along this line, we were among the first to...
      Speaker: Cécile Martinat
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      JUN 28, 2017 | 10:30 AM
      WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
      WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
      DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
      Speaker: Tracy Stockley PhD, FCCMG, FACMG
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      6 1
      JUN 08, 2017 | 12:00 PM
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
      The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
      Speaker: Rhonda Newman, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      3
      JUN 08, 2017 | 10:00 AM
      WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
      WEBINAR: Analysis of the transcriptome of carriers of pathological...
      DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
      Speaker: Oscar Harari, PhD
      Sponsored By: Lexogen
      6
      MAY 11, 2017 | 10:30 AM
      C.E. CREDITS
      Functional Characterization of Gene Regulatory Elements
      Functional Characterization of Gene Regulatory Elements
      Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
      Speaker: Nadav Ahituv, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 11, 2017 | 6:00 AM
      Precision Medicine in Juvenile Psychosis
      Precision Medicine in Juvenile Psychosis
      Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
      Speaker: Catherine Brownstein, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 12:00 PM
      C.E. CREDITS
      Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
      Not all variants are created equal: what went wrong in the prediction...
      Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
      Speaker: Yana Bromberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 4:00 AM
      Stabilization of native & functional membrane proteins for drug discovery
      Stabilization of native & functional membrane proteins for drug...
      CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
      Speaker: Anass Jawhari, PhD
      Presented at: 2017 Gibco ExpressionWorld
      10 1
      MAY 09, 2017 | 8:00 AM
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
      DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
      Speaker: Hela Azaiez, PhD
      Sponsored By: Agilent
      11 8
      APR 26, 2017 | 9:00 AM
      WEBINAR: Reliable Detection of Low Abundance Somatic Mutations from Heterogeneous Solid Tumor Samples
      WEBINAR: Reliable Detection of Low Abundance Somatic Mutations...
      DATE: April 26, 2017TIME: 9:00AM PT, 12:00PM ETBiopsies from non-small cell lung cancer (NSCLC) and colorectal adenocarcinoma generally produce small, heterogeneous samples with li...
      Speaker: Bobbie Collett Sutton, PhD, MD , Darryl Irwin, PhD
      Sponsored By: Agena Bioscience
      9
      APR 19, 2017 | 4:00 AM
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
      DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
      Speaker: Giridharan Periyasamy, PhD
      Sponsored By: Revvity
      8
      APR 13, 2017 | 6:00 AM
      The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
      The Pandora's box of molecular diagnostics: Genomic analysis of...
      Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
      Speaker: John Martignetti, MD, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      2
    OCT 12, 2017 | 9:00 AM
    Profiling the cell surface of cancer cell lines for biomarker/drug target discovery using MS-based proteomics
    Profiling the cell surface of cancer cell lines for biomarker/drug...
    In order to expand the treatment options of cancers driven by oncogenic RAS, new cell surface targets need to be identified and characterized. Here, we describe mass spectrometry based phenot...
    Speaker: Josip Blonder, MD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    3
    OCT 12, 2017 | 6:00 AM
    Inference of gene signatures associated with response and resistance to targeted and immunotherapies
    Inference of gene signatures associated with response and resistance...
    We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
    Speaker: Xiaole Shirley Liu, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    OCT 11, 2017 | 12:00 PM
    Examining Cancer with the minION: Methylation and Structural Variation
    Examining Cancer with the minION: Methylation and Structural Variation
    Nanopore sequencing has enormous potential for application to cancer, but specifically offers advantages into two main arenas, epigenetics and structural variation. Methylation is well-known...
    Speaker: Winston Timp, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    Sponsored By: Oxford Nanopore Technologies
    1
    OCT 11, 2017 | 6:00 AM
    A Pan-Cancer view of gene expression in Immuno-Oncology with particular applications in ovarian cancer
    A Pan-Cancer view of gene expression in Immuno-Oncology with particular...
    There has been a great deal of renewed attention in immuno-oncology over the last decade.   Therapies for cancer are being developed, approved, and administered that can either initiate,...
    Speaker: Wendell Jones, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    2
    SEP 27, 2017 | 12:00 PM
    Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
    Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
    Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond. Recent studies show that response to checkpoint blockade does not...
    Speaker: Joshua Brody, MD
    Presented at: Cell Biology Virtual Event Series 2017
    2
     
     
  • SEP 27, 2017 | 12:00 PM
    CRISPR-Cas9 genome engineering: Experimental Design and Applications
    CRISPR-Cas9 genome engineering: Experimental Design and Applications
    The manipulation of the genome to study disease, evaluate drug targets and to stratify patient populations is now a widely accepted concept in the field. At Horizon Discovery, genome engineer...
    Speaker: Danielle Folkard
    Presented at: Cell Biology Virtual Event Series 2017
    Sponsored By: Horizon Discovery
    2
    SEP 19, 2017 | 10:30 AM
    WEBINAR: Structure and Function of Epigenetic Regulators in Human Disease
    WEBINAR: Structure and Function of Epigenetic Regulators in Human...
    DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
    Speaker: Cigall Kadoch, PhD , Chris Fry, PhD
    Sponsored By: Cell Signaling Technology
    9 1
    SEP 14, 2017 | 7:30 AM
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
    Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
    Speaker: Neil Osheroff, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
    AUG 01, 2017 | 12:00 AM
    Accelerating cures for rare childhood diseases using iPSC models
    Accelerating cures for rare childhood diseases using iPSC models
    Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
    Speaker: Christina Waters
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    JUL 21, 2017 | 10:00 AM
    WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
    WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
    DATE: July 21, 2017TIME: 10:00am PT, 1:00pm ETCRISPR/Cas9 techniques are quickly growing in popularity for the generation of new mouse models for research. Though the approach is relati...
    Speaker: David Grass, PhD
    Sponsored By: The Jackson Laboratory (JAX)
    10
     
     
  • JUL 01, 2017 | 8:00 AM
    iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
    iPSC-derived neural cells for drug discovery of mitochondrial...
    Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
    Speaker: Alessandro Prigione
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    JUL 01, 2017 | 8:00 AM
    Patient-specific hiPSCs for understanding diabetes disease mechanisms
    Patient-specific hiPSCs for understanding diabetes disease mechanisms
    Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
    Speaker: Adrian Teo
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    3
    JUL 01, 2017 | 12:00 AM
    Pluripotent stem cells to explore mechanisms and treatments of neuromuscular diseases
    Pluripotent stem cells to explore mechanisms and treatments of...
    Disease-specific human pluripotent stem cells (hPSCs) represent a new chance to unravel cellular and molecular mechanisms of neurological diseases. Along this line, we were among the first to...
    Speaker: Cécile Martinat
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    JUN 28, 2017 | 10:30 AM
    WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
    WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
    DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
    Speaker: Tracy Stockley PhD, FCCMG, FACMG
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    6 1
    JUN 08, 2017 | 12:00 PM
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
    The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
    Speaker: Rhonda Newman, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    3
     
     
  • JUN 08, 2017 | 10:00 AM
    WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
    WEBINAR: Analysis of the transcriptome of carriers of pathological...
    DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
    Speaker: Oscar Harari, PhD
    Sponsored By: Lexogen
    6
    MAY 11, 2017 | 10:30 AM
    C.E. CREDITS
    Functional Characterization of Gene Regulatory Elements
    Functional Characterization of Gene Regulatory Elements
    Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
    Speaker: Nadav Ahituv, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 11, 2017 | 6:00 AM
    Precision Medicine in Juvenile Psychosis
    Precision Medicine in Juvenile Psychosis
    Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
    Speaker: Catherine Brownstein, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 12:00 PM
    C.E. CREDITS
    Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
    Not all variants are created equal: what went wrong in the prediction...
    Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
    Speaker: Yana Bromberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 4:00 AM
    Stabilization of native & functional membrane proteins for drug discovery
    Stabilization of native & functional membrane proteins for drug...
    CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
    Speaker: Anass Jawhari, PhD
    Presented at: 2017 Gibco ExpressionWorld
    10 1
     
     
  • MAY 09, 2017 | 8:00 AM
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
    DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
    Speaker: Hela Azaiez, PhD
    Sponsored By: Agilent
    11 8
    APR 26, 2017 | 9:00 AM
    WEBINAR: Reliable Detection of Low Abundance Somatic Mutations from Heterogeneous Solid Tumor Samples
    WEBINAR: Reliable Detection of Low Abundance Somatic Mutations...
    DATE: April 26, 2017TIME: 9:00AM PT, 12:00PM ETBiopsies from non-small cell lung cancer (NSCLC) and colorectal adenocarcinoma generally produce small, heterogeneous samples with li...
    Speaker: Bobbie Collett Sutton, PhD, MD , Darryl Irwin, PhD
    Sponsored By: Agena Bioscience
    9
    APR 19, 2017 | 4:00 AM
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
    DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
    Speaker: Giridharan Periyasamy, PhD
    Sponsored By: Revvity
    8
    APR 13, 2017 | 6:00 AM
    The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
    The Pandora's box of molecular diagnostics: Genomic analysis of...
    Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
    Speaker: John Martignetti, MD, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
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