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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 05, 2016 | 6:00 AM
      Melanoma - View from the Frontlines of Immunotherapy and Precision Medicine
      Melanoma - View from the Frontlines of Immunotherapy and Precision...
      Melanoma arises in the pigment producing cells (melanocytes) and is the deadliest of the skin cancers. It accounts for nearly 200,000 new cases of cancer each year worldwide and in the U.S. o...
      Speaker: Louise Perkins, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
      SEP 07, 2016 | 7:30 AM
      Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
      Keynote Speaker: Challenges towards a Universal Influenza Virus...
      Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
      Speaker: Peter Palese, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2016
      3
      AUG 30, 2016 | 8:00 AM
      Elucidating the physiological function of cellular PrPC using human iPS cel
      Elucidating the physiological function of cellular PrPC using...
      PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
      Speaker: Vijay Chandrasekar, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      AUG 30, 2016 | 8:00 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: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
      The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
      Speaker: Lachlan Jolly, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      From urine to the study of metabolic disease - A patient-driven strategy to decipher PCSK9 roles and functions.
      From urine to the study of metabolic disease - A patient-driven...
      In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
      Speaker: Karim Si-Tayeb, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      AUG 30, 2016 | 8:00 AM
      Delivery solutions for robust CRISPR-based genomic editing in stem cells for disease model generation
      Delivery solutions for robust CRISPR-based genomic editing in...
      Stem cells, specifically induced pluripotent stem cells (iPSCs), offer exciting potential for the future of cell therapy and regenerative medicine. More recently, genetic engineering of stem ...
      Speaker: Nektaria Andronikou
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
      0
      AUG 11, 2016 | 11:00 AM
      RNA-ISH for Long non-coding RNAs - new game changers in pathology
      RNA-ISH for Long non-coding RNAs - new game changers in pathology
      DATE: August 11, 2016 TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
      Speaker: Rohit Mehra, M.D.
      Sponsored By: Advanced Cell Diagnostics, Advanced Cell Diagnostics
      12
      MAY 12, 2016 | 1:30 PM
      The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
      The benefits and burdens of assaying matched normal tissue when...
      Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
      Speaker: Elena Helman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 10:30 AM
      C.E. CREDITS
      Big data integration - Inferring and using individual patient network models
      Big data integration - Inferring and using individual patient...
      The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
      Speaker: Marieke Kuijjer, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 12, 2016 | 7:30 AM
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
           Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
      Speaker: Zsolt Rónai, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 11, 2016 | 1:30 PM
      C.E. CREDITS
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
      Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
      Speaker: Ioannis (Jiannis) Ragoussis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 7:30 AM
      Keynote: Genomes for Medicine
      Keynote: Genomes for Medicine
      Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
      Speaker: David Bentley, DPhil, FMedSci
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 11, 2016 | 6:00 AM
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
      Speaker: Frederick Dewey, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      MAY 04, 2016 | 7:00 AM
      Structure and function of the Parkinson's disease-associated protein LRRK2
      Structure and function of the Parkinson's disease-associated protein...
      LRRK2 is a large (2,527 amino acids) multi-domain protein consisting of 7 putative domains, including a Ras-like GTPase domain called ‘Ras of complex proteins’ (Roc) followed by a...
      Speaker: Quyen Hoang, PhD
      Presented at: 2016 Gibco ExpressionWorld
      2
      APR 07, 2016 | 9:00 AM
      The impact of precise medicine on the practice of classical pathology -- What are some of the challenges and opportunities?
      The impact of precise medicine on the practice of classical pathology...
      Pathology departments are under significant pressure to meet the demands of a precise medicine environment where general phenotypic attributes are no longer sufficient for accurately defining...
      Speaker: Michael Donovan, MD, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      2
      APR 06, 2016 | 1:30 PM
      Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
      Validation and Implementation of Whole-Exome Sequencing to Guide...
      Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
      Speaker: Hanna Rennert, PhD, F.A.C.M.G
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      APR 06, 2016 | 1:30 PM
      The application of molecular diagnostics to stained cytology smears
      The application of molecular diagnostics to stained cytology smears
      Detection of mutational alterations is important for guiding treatment decisions of lung non-small cell carcinomas and thyroid nodules with atypical cytologic findings. Inoperable lung tumors...
      Speaker: Maja Oktay, MD, PhD , Sumanta Goswami, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      2
      APR 06, 2016 | 9:00 AM
      Liquid biopsy and NGS: moving from sample to insight
      Liquid biopsy and NGS: moving from sample to insight
      Success of the personalized medicine strategy depends on our ability to access the genetic variance landscape continuously before, during and after treatment.  Liquid biopsies provide us...
      Speaker: Raed Samara, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      APR 06, 2016 | 6:00 AM
      EFIRM Liquid Biopsy
      EFIRM Liquid Biopsy
      The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
      Speaker: David Wong DMD, DMSc
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      5 1
      MAR 31, 2016 | 8:00 AM
      Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
      Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
      DATE:  March 31, 2016 TIME:   8am PT, 11am ET, 4pm GMT In this webinar, you will learn:  Basics of homology-directed repair (HDR) using CRISPR-Cas9 Selection of CRISP...
      Speaker: John Schiel, Ph.D.
      Sponsored By: Dharmacon, Dharmacon
      31 12
      FEB 24, 2016 | 2:00 PM
      Why we should clinically classify genotypes, not variants
      Why we should clinically classify genotypes, not variants
      A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
      Speaker: Nathaniel Pearson, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 6:00 AM
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
      Speaker: Raed Samara, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      NOV 11, 2015 | 10:30 AM
      Role of LC/MS/MS spectrometry in diagnosis of various endocrine disorders
      Role of LC/MS/MS spectrometry in diagnosis of various endocrine...
          Until recently most of the phenotypic information on congenital endocrine disorders have relied on biochemical testing of steroids, biogenic amines and peptides but is now...
      Speaker: Ravinder Singh, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      0
    OCT 05, 2016 | 6:00 AM
    Melanoma - View from the Frontlines of Immunotherapy and Precision Medicine
    Melanoma - View from the Frontlines of Immunotherapy and Precision...
    Melanoma arises in the pigment producing cells (melanocytes) and is the deadliest of the skin cancers. It accounts for nearly 200,000 new cases of cancer each year worldwide and in the U.S. o...
    Speaker: Louise Perkins, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
    SEP 07, 2016 | 7:30 AM
    Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
    Keynote Speaker: Challenges towards a Universal Influenza Virus...
    Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
    Speaker: Peter Palese, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2016
    3
    AUG 30, 2016 | 8:00 AM
    Elucidating the physiological function of cellular PrPC using human iPS cel
    Elucidating the physiological function of cellular PrPC using...
    PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
    Speaker: Vijay Chandrasekar, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    AUG 30, 2016 | 8:00 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: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    AUG 30, 2016 | 8:00 AM
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
    The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
    Speaker: Lachlan Jolly, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
     
     
  • AUG 30, 2016 | 8:00 AM
    From urine to the study of metabolic disease - A patient-driven strategy to decipher PCSK9 roles and functions.
    From urine to the study of metabolic disease - A patient-driven...
    In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
    Speaker: Karim Si-Tayeb, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    AUG 30, 2016 | 8:00 AM
    Delivery solutions for robust CRISPR-based genomic editing in stem cells for disease model generation
    Delivery solutions for robust CRISPR-based genomic editing in...
    Stem cells, specifically induced pluripotent stem cells (iPSCs), offer exciting potential for the future of cell therapy and regenerative medicine. More recently, genetic engineering of stem ...
    Speaker: Nektaria Andronikou
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
    0
    AUG 11, 2016 | 11:00 AM
    RNA-ISH for Long non-coding RNAs - new game changers in pathology
    RNA-ISH for Long non-coding RNAs - new game changers in pathology
    DATE: August 11, 2016 TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
    Speaker: Rohit Mehra, M.D.
    Sponsored By: Advanced Cell Diagnostics, Advanced Cell Diagnostics
    12
    MAY 12, 2016 | 1:30 PM
    The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
    The benefits and burdens of assaying matched normal tissue when...
    Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
    Speaker: Elena Helman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 10:30 AM
    C.E. CREDITS
    Big data integration - Inferring and using individual patient network models
    Big data integration - Inferring and using individual patient...
    The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
    Speaker: Marieke Kuijjer, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
     
     
  • MAY 12, 2016 | 7:30 AM
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
         Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
    Speaker: Zsolt Rónai, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
    MAY 11, 2016 | 1:30 PM
    C.E. CREDITS
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
    Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
    Speaker: Ioannis (Jiannis) Ragoussis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 7:30 AM
    Keynote: Genomes for Medicine
    Keynote: Genomes for Medicine
    Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
    Speaker: David Bentley, DPhil, FMedSci
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
    MAY 11, 2016 | 6:00 AM
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
    Speaker: Frederick Dewey, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
    MAY 04, 2016 | 7:00 AM
    Structure and function of the Parkinson's disease-associated protein LRRK2
    Structure and function of the Parkinson's disease-associated protein...
    LRRK2 is a large (2,527 amino acids) multi-domain protein consisting of 7 putative domains, including a Ras-like GTPase domain called ‘Ras of complex proteins’ (Roc) followed by a...
    Speaker: Quyen Hoang, PhD
    Presented at: 2016 Gibco ExpressionWorld
    2
     
     
  • APR 07, 2016 | 9:00 AM
    The impact of precise medicine on the practice of classical pathology -- What are some of the challenges and opportunities?
    The impact of precise medicine on the practice of classical pathology...
    Pathology departments are under significant pressure to meet the demands of a precise medicine environment where general phenotypic attributes are no longer sufficient for accurately defining...
    Speaker: Michael Donovan, MD, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    2
    APR 06, 2016 | 1:30 PM
    Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
    Validation and Implementation of Whole-Exome Sequencing to Guide...
    Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
    Speaker: Hanna Rennert, PhD, F.A.C.M.G
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    APR 06, 2016 | 1:30 PM
    The application of molecular diagnostics to stained cytology smears
    The application of molecular diagnostics to stained cytology smears
    Detection of mutational alterations is important for guiding treatment decisions of lung non-small cell carcinomas and thyroid nodules with atypical cytologic findings. Inoperable lung tumors...
    Speaker: Maja Oktay, MD, PhD , Sumanta Goswami, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    2
    APR 06, 2016 | 9:00 AM
    Liquid biopsy and NGS: moving from sample to insight
    Liquid biopsy and NGS: moving from sample to insight
    Success of the personalized medicine strategy depends on our ability to access the genetic variance landscape continuously before, during and after treatment.  Liquid biopsies provide us...
    Speaker: Raed Samara, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    APR 06, 2016 | 6:00 AM
    EFIRM Liquid Biopsy
    EFIRM Liquid Biopsy
    The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
    Speaker: David Wong DMD, DMSc
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    5 1
     
     
  • MAR 31, 2016 | 8:00 AM
    Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
    Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
    DATE:  March 31, 2016 TIME:   8am PT, 11am ET, 4pm GMT In this webinar, you will learn:  Basics of homology-directed repair (HDR) using CRISPR-Cas9 Selection of CRISP...
    Speaker: John Schiel, Ph.D.
    Sponsored By: Dharmacon, Dharmacon
    31 12
    FEB 24, 2016 | 2:00 PM
    Why we should clinically classify genotypes, not variants
    Why we should clinically classify genotypes, not variants
    A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
    Speaker: Nathaniel Pearson, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 6:00 AM
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
    Speaker: Raed Samara, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    NOV 11, 2015 | 10:30 AM
    Role of LC/MS/MS spectrometry in diagnosis of various endocrine disorders
    Role of LC/MS/MS spectrometry in diagnosis of various endocrine...
        Until recently most of the phenotypic information on congenital endocrine disorders have relied on biochemical testing of steroids, biogenic amines and peptides but is now...
    Speaker: Ravinder Singh, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
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