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    Follow

    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

    • FEB 24, 2016 | 7:00 AM
      Precision Medicine Approaches and the Future of Drug Development in Oncology
      Precision Medicine Approaches and the Future of Drug Development...
      A number of recently publications have heralded the advent of Precision Medicine in Oncology, where next generation sequencing technology, other ’omics technologies, serial biopsies, so...
      Speaker: Thomas Metcalfe
      Presented at: Precision Medicine Virtual Event Series 2016
      3
      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
      FEB 04, 2016 | 6:00 AM
      Zebrafish: an upswing model in research and the need for refinement of anaesthesia
      Zebrafish: an upswing model in research and the need for refinement...
           In the last decade the number of publications in zebrafish tripled, from 938 in 2005 to 2432 in 2015 (Pubmed database; keyword: “zebrafish” in Title/Abstract;...
      Speaker: Ana Valentim, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2016
      2
      FEB 03, 2016 | 12:00 PM
      Panel: How small things can have a big impact on research and breeding in your rodent colony
      Panel: How small things can have a big impact on research and...
      This presentation will discuss variables in rodent colony management that can affect colony breeding efficiency, rodent health, and factors that can modulate rodent models of disease.  V...
      Speaker: Mandy Horn, MS , Sheri Wildt, MS, MBA, CMAR
      Presented at: Laboratory Animal Sciences Virtual Event Series 2016
      3
      FEB 03, 2016 | 10:30 AM
      Panel Discussion: Promoting reproducible animal research in journal publications
      Panel Discussion: Promoting reproducible animal research in journal...
      Reproducibility refers to the ability of an experiment or study to be replicated, either by the same person or group or by others working independently.  With regard to scientific public...
      Speaker: Linda Toth, DVM, PhD , Susan Compton
      Presented at: Laboratory Animal Sciences Virtual Event Series 2016
      2
      NOV 12, 2015 | 1:30 PM
      Opportunities to simplify clinical lipid assessment
      Opportunities to simplify clinical lipid assessment
      The assessment of serum lipid and lipoprotein levels is a common procedure which affects the management of the risk of atherothrombotic cardiovascular disease (CVD) in large numbers of patien...
      Speaker: Howard Morris, PhD, FAACB, FFSc(RCPA) , David R Sullivan, MBBS, FRACP, FRCPA
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      1
      NOV 12, 2015 | 12:00 PM
      Keynote: Optimizing the use of laboratory testing services to improve patient diagnosis
      Keynote: Optimizing the use of laboratory testing services to...
      Diagnostic error impacts millions of US adults and children every year1,2.  Failure to order an appropriate diagnostic test and incorrect interpretation of diagnostic test results are co...
      Speaker: Michael Laposata, MD, PhD , Julie Taylor, PhD, MS
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      4
      NOV 11, 2015 | 6:00 AM
      Clinical next-generation sequencing for precision cancer therapeutics
      Clinical next-generation sequencing for precision cancer therapeutics
      Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
      Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      2
      NOV 04, 2015 | 11:00 AM
      Advances in AMPK and Autophagy signaling
      Advances in AMPK and Autophagy signaling
      DATE: November 4th, 2015 TIME: 11:00am Pacific time, 2:00pm Eastern time AMPK, a highly conserved sensor of cellular energy status, is found in all eukaryotic cells and maintains met...
      Speaker: Reuben Shaw, PhD
      Sponsored By: Cell Signaling Technology, Cell Signaling Technology
      14 1
      OCT 07, 2015 | 9:00 AM
      Advancing neuroscience: functional insights from in vitro microelectrode arrays
      Advancing neuroscience: functional insights from in vitro microelectrode...
      DATE: October 7th, 2015TIME: 9am Pacific time, 12pm Eastern timeThe neuroscience field is rapidly evolving as both a burgeoning area for basic research (Parkinson’s, Alzheimer’s, ...
      Speaker: Carol Marchetto, PhD , John Graef, PhD , Daniel Millard, PhD
      Sponsored By: Axion BioSystems, Axion BioSystems
      5
      OCT 01, 2015 | 1:30 PM
      Data, Data, Everywhere - Using Complexity Analysis to find coherence in Cancer Big Data
      Data, Data, Everywhere - Using Complexity Analysis to find coherence...
      Multidimensional molecular characterization has led to a tsunami of cancer data. Precision Medicine assumes that new understanding and better interventions will flow from this “Big Data...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      OCT 01, 2015 | 10:30 AM
      Powerful Tools for In vitro Fluorescent Imaging in Cancer Research
      Powerful Tools for In vitro Fluorescent Imaging in Cancer Research
      ImmunoChemistry Technologies offers multiple tools for fluorescent imaging in the context of cancer research and oncology. ICT’s in vitro cell-based apoptosis assays allow biomedical re...
      Speaker: Jackie Carville
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      OCT 01, 2015 | 10:30 AM
      How the diagnosis of melanoma is made: clinical detection/recognition and histologic/genetic assessment
      How the diagnosis of melanoma is made: clinical detection/recognition...
      The assessment of pigmented lesions is a difficult area of dermatology and dermatopathology.  Melanoma is the leading cause of cancer in woman age 25-29 years, yet it is also a leading c...
      Speaker: Whitney High, MD, JD, M.Eng
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      SEP 16, 2015 | 12:00 PM
      Developing Accurate Nanomedicines: The BIND Therapeutics Approach
      Developing Accurate Nanomedicines: The BIND Therapeutics Approach
      Nanotechnology, the engineering and manufacture of materials at the atomic and molecular scale, is used at BIND Therapeutics to develop novel Accurin™ nanomedicines that utilize cytotoxic age...
      Speaker: Hagop Youssoufian
      Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
      2
      SEP 16, 2015 | 7:00 AM
      Editas Medicine, Creating a novel class of genome editing therapeutics
      Editas Medicine, Creating a novel class of genome editing therapeutics
      Genome editing technologies, including the CRISPR/Cas9 system, allow for precise and corrective molecular modifications to treat the underlying cause of genetic diseases. Editas Medicine is d...
      Speaker: Vic Myer
      Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
      2
      SEP 15, 2015 | 8:00 AM
      WEBINAR: Custom Microarray as a Companion Assay for Exome Sequencing
      WEBINAR: Custom Microarray as a Companion Assay for Exome Sequencing
      Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
      Speaker: Yiping Shen, PhD, FACMG
      Sponsored By: Agilent Genomics, Agilent Genomics
      6
      SEP 09, 2015 | 9:00 AM
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
      DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
      Speaker: A. John Iafrate, MD, PhD
      Sponsored By: Archer DX, Archer DX
      7 1
      SEP 02, 2015 | 7:30 AM
      Keynote: The Science of Biofilm Control with Antimicrobial Agents
      Keynote: The Science of Biofilm Control with Antimicrobial Agents
      This presentation will discuss fundamental physical, chemical, and biological concepts important to understanding control of detrimental biofilms. Four phenomena that are important in the act...
      Speaker: Phil Stewart, PhD
      Presented at: Microbiology Virtual Event Series 2015
      3
      SEP 02, 2015 | 6:00 AM
      Simple, fast and accurate microbial identification by sequencing
      Simple, fast and accurate microbial identification by sequencing
      Managing microbial contaminants is critical during the manufacturing of biologics, food and beverage to ensure that products meet the high quality product standard as well as staying complian...
      Speaker: Jane Luo, PhD
      Presented at: Microbiology Virtual Event Series 2015
      9
      JUL 22, 2015 | 9:00 AM
      WEBINAR: Investigative in vitro Drug Toxicology with Human iPSC-derived Cardiomyocytes
      WEBINAR: Investigative in vitro Drug Toxicology with Human iPSC-derived...
      DATE: July 22, 2015TIME: 9:00AM PT, 12:00PM ETHuman induced pluripotent stem cells (iPSCs) bring human biology into pre-clinical aspects of drug discovery. iPSC-derived cardiomyocytes have em...
      Speaker: Blake Anson, PhD , Mathew Brock, PhD
      Sponsored By: Cellular Dynamics, Cellular Dynamics
      10 1
      JUN 11, 2015 | 11:00 AM
      Assessing Quality Using ACCURUN® Controls for Quantitative Viral Load Assays
      Assessing Quality Using ACCURUN® Controls for Quantitative Viral...
      Consistent accuracy in reporting quantitative viral load results is critically important to patients, their physicians and to the clinical laboratory. In clinical practice, quantitative viral...
      Speaker: Russell Garlick
      Presented at: Cardinal Health labXchange
      Sponsored By: Cardinal Health™ OptiFreight® Logistics
      6
      JUN 11, 2015 | 7:00 AM
      The dynamics of β-amyloid plaque genesis - an in vivo study in transgenic mice of Alzheimer's disease
      The dynamics of β-amyloid plaque genesis - an in vivo study in...
      Date: Thursday, June 11th, 2015Time: 07:00AM PDT, 10:00AM EDT, 03:00PM BST Alzheimer's disease (AD) is the most common form of dementia with nearly 44 million people affected worldwide. Chara...
      Speaker: Steffen Burgold, PhD , Finn Peters
      Sponsored By: Andor, Andor
      14 1
      MAY 14, 2015 | 1:30 PM
      Epigenomic Profiles of Asthma
      Epigenomic Profiles of Asthma
      Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
      Speaker: Ivana Yang, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      2
      MAY 14, 2015 | 1:30 PM
      Germline Cancer Genetics in 2015
      Germline Cancer Genetics in 2015
      Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
      Speaker: Judy E Garber, MD, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
    FEB 24, 2016 | 7:00 AM
    Precision Medicine Approaches and the Future of Drug Development in Oncology
    Precision Medicine Approaches and the Future of Drug Development...
    A number of recently publications have heralded the advent of Precision Medicine in Oncology, where next generation sequencing technology, other ’omics technologies, serial biopsies, so...
    Speaker: Thomas Metcalfe
    Presented at: Precision Medicine Virtual Event Series 2016
    3
    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
    FEB 04, 2016 | 6:00 AM
    Zebrafish: an upswing model in research and the need for refinement of anaesthesia
    Zebrafish: an upswing model in research and the need for refinement...
         In the last decade the number of publications in zebrafish tripled, from 938 in 2005 to 2432 in 2015 (Pubmed database; keyword: “zebrafish” in Title/Abstract;...
    Speaker: Ana Valentim, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2016
    2
    FEB 03, 2016 | 12:00 PM
    Panel: How small things can have a big impact on research and breeding in your rodent colony
    Panel: How small things can have a big impact on research and...
    This presentation will discuss variables in rodent colony management that can affect colony breeding efficiency, rodent health, and factors that can modulate rodent models of disease.  V...
    Speaker: Mandy Horn, MS , Sheri Wildt, MS, MBA, CMAR
    Presented at: Laboratory Animal Sciences Virtual Event Series 2016
    3
    FEB 03, 2016 | 10:30 AM
    Panel Discussion: Promoting reproducible animal research in journal publications
    Panel Discussion: Promoting reproducible animal research in journal...
    Reproducibility refers to the ability of an experiment or study to be replicated, either by the same person or group or by others working independently.  With regard to scientific public...
    Speaker: Linda Toth, DVM, PhD , Susan Compton
    Presented at: Laboratory Animal Sciences Virtual Event Series 2016
    2
     
     
  • NOV 12, 2015 | 1:30 PM
    Opportunities to simplify clinical lipid assessment
    Opportunities to simplify clinical lipid assessment
    The assessment of serum lipid and lipoprotein levels is a common procedure which affects the management of the risk of atherothrombotic cardiovascular disease (CVD) in large numbers of patien...
    Speaker: Howard Morris, PhD, FAACB, FFSc(RCPA) , David R Sullivan, MBBS, FRACP, FRCPA
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    1
    NOV 12, 2015 | 12:00 PM
    Keynote: Optimizing the use of laboratory testing services to improve patient diagnosis
    Keynote: Optimizing the use of laboratory testing services to...
    Diagnostic error impacts millions of US adults and children every year1,2.  Failure to order an appropriate diagnostic test and incorrect interpretation of diagnostic test results are co...
    Speaker: Michael Laposata, MD, PhD , Julie Taylor, PhD, MS
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    4
    NOV 11, 2015 | 6:00 AM
    Clinical next-generation sequencing for precision cancer therapeutics
    Clinical next-generation sequencing for precision cancer therapeutics
    Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
    Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    2
    NOV 04, 2015 | 11:00 AM
    Advances in AMPK and Autophagy signaling
    Advances in AMPK and Autophagy signaling
    DATE: November 4th, 2015 TIME: 11:00am Pacific time, 2:00pm Eastern time AMPK, a highly conserved sensor of cellular energy status, is found in all eukaryotic cells and maintains met...
    Speaker: Reuben Shaw, PhD
    Sponsored By: Cell Signaling Technology, Cell Signaling Technology
    14 1
    OCT 07, 2015 | 9:00 AM
    Advancing neuroscience: functional insights from in vitro microelectrode arrays
    Advancing neuroscience: functional insights from in vitro microelectrode...
    DATE: October 7th, 2015TIME: 9am Pacific time, 12pm Eastern timeThe neuroscience field is rapidly evolving as both a burgeoning area for basic research (Parkinson’s, Alzheimer’s, ...
    Speaker: Carol Marchetto, PhD , John Graef, PhD , Daniel Millard, PhD
    Sponsored By: Axion BioSystems, Axion BioSystems
    5
     
     
  • OCT 01, 2015 | 1:30 PM
    Data, Data, Everywhere - Using Complexity Analysis to find coherence in Cancer Big Data
    Data, Data, Everywhere - Using Complexity Analysis to find coherence...
    Multidimensional molecular characterization has led to a tsunami of cancer data. Precision Medicine assumes that new understanding and better interventions will flow from this “Big Data...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    OCT 01, 2015 | 10:30 AM
    Powerful Tools for In vitro Fluorescent Imaging in Cancer Research
    Powerful Tools for In vitro Fluorescent Imaging in Cancer Research
    ImmunoChemistry Technologies offers multiple tools for fluorescent imaging in the context of cancer research and oncology. ICT’s in vitro cell-based apoptosis assays allow biomedical re...
    Speaker: Jackie Carville
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    OCT 01, 2015 | 10:30 AM
    How the diagnosis of melanoma is made: clinical detection/recognition and histologic/genetic assessment
    How the diagnosis of melanoma is made: clinical detection/recognition...
    The assessment of pigmented lesions is a difficult area of dermatology and dermatopathology.  Melanoma is the leading cause of cancer in woman age 25-29 years, yet it is also a leading c...
    Speaker: Whitney High, MD, JD, M.Eng
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    SEP 16, 2015 | 12:00 PM
    Developing Accurate Nanomedicines: The BIND Therapeutics Approach
    Developing Accurate Nanomedicines: The BIND Therapeutics Approach
    Nanotechnology, the engineering and manufacture of materials at the atomic and molecular scale, is used at BIND Therapeutics to develop novel Accurin™ nanomedicines that utilize cytotoxic age...
    Speaker: Hagop Youssoufian
    Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
    2
    SEP 16, 2015 | 7:00 AM
    Editas Medicine, Creating a novel class of genome editing therapeutics
    Editas Medicine, Creating a novel class of genome editing therapeutics
    Genome editing technologies, including the CRISPR/Cas9 system, allow for precise and corrective molecular modifications to treat the underlying cause of genetic diseases. Editas Medicine is d...
    Speaker: Vic Myer
    Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
    2
     
     
  • SEP 15, 2015 | 8:00 AM
    WEBINAR: Custom Microarray as a Companion Assay for Exome Sequencing
    WEBINAR: Custom Microarray as a Companion Assay for Exome Sequencing
    Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
    Speaker: Yiping Shen, PhD, FACMG
    Sponsored By: Agilent Genomics, Agilent Genomics
    6
    SEP 09, 2015 | 9:00 AM
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
    DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
    Speaker: A. John Iafrate, MD, PhD
    Sponsored By: Archer DX, Archer DX
    7 1
    SEP 02, 2015 | 7:30 AM
    Keynote: The Science of Biofilm Control with Antimicrobial Agents
    Keynote: The Science of Biofilm Control with Antimicrobial Agents
    This presentation will discuss fundamental physical, chemical, and biological concepts important to understanding control of detrimental biofilms. Four phenomena that are important in the act...
    Speaker: Phil Stewart, PhD
    Presented at: Microbiology Virtual Event Series 2015
    3
    SEP 02, 2015 | 6:00 AM
    Simple, fast and accurate microbial identification by sequencing
    Simple, fast and accurate microbial identification by sequencing
    Managing microbial contaminants is critical during the manufacturing of biologics, food and beverage to ensure that products meet the high quality product standard as well as staying complian...
    Speaker: Jane Luo, PhD
    Presented at: Microbiology Virtual Event Series 2015
    9
    JUL 22, 2015 | 9:00 AM
    WEBINAR: Investigative in vitro Drug Toxicology with Human iPSC-derived Cardiomyocytes
    WEBINAR: Investigative in vitro Drug Toxicology with Human iPSC-derived...
    DATE: July 22, 2015TIME: 9:00AM PT, 12:00PM ETHuman induced pluripotent stem cells (iPSCs) bring human biology into pre-clinical aspects of drug discovery. iPSC-derived cardiomyocytes have em...
    Speaker: Blake Anson, PhD , Mathew Brock, PhD
    Sponsored By: Cellular Dynamics, Cellular Dynamics
    10 1
     
     
  • JUN 11, 2015 | 11:00 AM
    Assessing Quality Using ACCURUN® Controls for Quantitative Viral Load Assays
    Assessing Quality Using ACCURUN® Controls for Quantitative Viral...
    Consistent accuracy in reporting quantitative viral load results is critically important to patients, their physicians and to the clinical laboratory. In clinical practice, quantitative viral...
    Speaker: Russell Garlick
    Presented at: Cardinal Health labXchange
    Sponsored By: Cardinal Health™ OptiFreight® Logistics
    6
    JUN 11, 2015 | 7:00 AM
    The dynamics of β-amyloid plaque genesis - an in vivo study in transgenic mice of Alzheimer's disease
    The dynamics of β-amyloid plaque genesis - an in vivo study in...
    Date: Thursday, June 11th, 2015Time: 07:00AM PDT, 10:00AM EDT, 03:00PM BST Alzheimer's disease (AD) is the most common form of dementia with nearly 44 million people affected worldwide. Chara...
    Speaker: Steffen Burgold, PhD , Finn Peters
    Sponsored By: Andor, Andor
    14 1
    MAY 14, 2015 | 1:30 PM
    Epigenomic Profiles of Asthma
    Epigenomic Profiles of Asthma
    Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
    Speaker: Ivana Yang, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    2
    MAY 14, 2015 | 1:30 PM
    Germline Cancer Genetics in 2015
    Germline Cancer Genetics in 2015
    Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
    Speaker: Judy E Garber, MD, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
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