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    Medical Genetics

    Medical Genetics: involves the application of genetics to medical care, including research on the causes and inheritance of genetic disorders, and their diagnosis and management.

    Webinars

    • AUG 22, 2013 | 3:00 PM
      C.E. CREDITS
      Evaluation challenges and regulatory considerations for next-generation sequencing and other high throughput genomic technology based clinical applications
      Evaluation challenges and regulatory considerations for next-generation...
      The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
      Speaker: Živana Težak, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      282
      AUG 22, 2013 | 3:00 PM
      Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
      Next-generation Cancer Care in the Age of Genomics, Precision...
      Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
      Speaker: C Jimmy Lin, MD, PhD, MHS
      Presented at: Genetics and Genomics Virtual Event Series 2013
      114
      AUG 22, 2013 | 2:00 PM
      Translation and Clinical Application of Innovative Genomic Analysis: Challenges Remain
      Translation and Clinical Application of Innovative Genomic Analysis:...
      The role of the human genome in normal and patho-biology is crucial. Applied in cancer care and in a variety of unknown disorder settings, it can provide key insights and crucial diagnostic/p...
      Speaker: Paul Billings, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      92
      AUG 22, 2013 | 1:00 PM
      Dominant regulation of gene expression by microRNAs
      Dominant regulation of gene expression by microRNAs
      MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
      Speaker: Noam Shomron, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      121
      AUG 22, 2013 | 12:00 PM
      C.E. CREDITS
      Exome Sequencing as a Diagnostic Tool
      Exome Sequencing as a Diagnostic Tool
      It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
      Speaker: Pinar Bayrak-Toydemir, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      66
      AUG 22, 2013 | 12:00 PM
      Use of Whole Genome Sequencing in Clinical Practice
      Use of Whole Genome Sequencing in Clinical Practice
      Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
      Speaker: Howard J Jacob, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      74
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Clinical Interpretation of Sequence Variants
      Clinical Interpretation of Sequence Variants
      The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
      Speaker: Elaine Lyon, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      72
      AUG 22, 2013 | 9:00 AM
      C.E. CREDITS
      Management and Analysis of Pre-implantation Genetic Diagnosis Data
      Management and Analysis of Pre-implantation Genetic Diagnosis...
      During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
      Speaker: Deanne Taylor, MS, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      34
      AUG 22, 2013 | 7:00 AM
      C.E. CREDITS
      Warfarin Sensitivity Testing
      Warfarin Sensitivity Testing
      Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
      Speaker: Thomas P Moyer, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      64
      AUG 21, 2013 | 4:00 PM
      C.E. CREDITS
      The hidden layer of RNA regulation in human development
      The hidden layer of RNA regulation in human development
      High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
      Speaker: John Mattick, PhD,AO, FAA, FRCPA
      Presented at: Genetics and Genomics Virtual Event Series 2013
      132
      AUG 21, 2013 | 2:00 PM
      C.E. CREDITS
      Comprehensive Chromosome Screening in the Human Embryo
      Comprehensive Chromosome Screening in the Human Embryo
      The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
      Speaker: Nathan R Treff, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      33
      AUG 21, 2013 | 2:00 PM
      C.E. CREDITS
      The role of protective genes in the exceptional longevity of humans
      The role of protective genes in the exceptional longevity of humans
      Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
      Speaker: Nir Barzilai, MD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      38
      AUG 21, 2013 | 2:00 PM
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
      Speaker: Patrice Milos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      96
      AUG 21, 2013 | 1:00 PM
      C.E. CREDITS
      In sickness and in health: variables effecting genome sequencing ethical issues
      In sickness and in health: variables effecting genome sequencing...
      In addition to the exciting promise that genome sequencing holds, concerns are also often described. These concerns relate to: privacy/confidentiality of findings; impact of findings on insur...
      Speaker: Kimberly Strong, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      49
      AUG 21, 2013 | 12:00 PM
      Noninvasive Cancer Genomics
      Noninvasive Cancer Genomics
      Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of to...
      Speaker: Charles Cantor, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      34
      AUG 21, 2013 | 12:00 PM
      C.E. CREDITS
      Genetics of Coronary Artery Disease
      Genetics of Coronary Artery Disease
      Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
      Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
      Presented at: Genetics and Genomics Virtual Event Series 2013
      36
      AUG 21, 2013 | 10:00 AM
      C.E. CREDITS
      Integration of Genomics into Medical Practice: Educational Challenges
      Integration of Genomics into Medical Practice: Educational Challenges
      Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      80
      AUG 21, 2013 | 9:00 AM
      Adventures in Personal Genomics and Whole Omics Profiling
      Adventures in Personal Genomics and Whole Omics Profiling
      Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      3466
      AUG 21, 2013 | 8:00 AM
      C.E. CREDITS
      Clinical Applications in Pharmacogenetics
      Clinical Applications in Pharmacogenetics
      As a component of individualized medicine, pharmacogenetics (PGx) focuses on how genetic factors influence individual responses to specific medications. The clinical goals of pharmacogenetics...
      Speaker: Linnea Baudhuin, PhD, DABMG
      Presented at: Genetics and Genomics Virtual Event Series 2013
      71
      AUG 21, 2013 | 8:00 AM
      Post Genome-Wide Association Studies
      Post Genome-Wide Association Studies
      In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      105
      AUG 21, 2013 | 8:00 AM
      C.E. CREDITS
      Implementation of genome sequencing in a clinical diagnostic laboratory
      Implementation of genome sequencing in a clinical diagnostic laboratory
      With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2013
      79
      AUG 21, 2013 | 7:00 AM
      Improving the Accuracy of Genome Sequencing and Interpretation
      Improving the Accuracy of Genome Sequencing and Interpretation
      Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
      Speaker: George Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      46
      AUG 21, 2013 | 6:00 AM
      C.E. CREDITS
      M-protein Evaluation in an Age of Automation: Capillary Electrophoresis, Free Light Chains & Heavy-Light Measurements
      M-protein Evaluation in an Age of Automation: Capillary Electrophoresis,...
      This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
      Speaker: David F Keren, MD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      46
      MAY 30, 2013 | 12:00 PM
      Companion Diagnostics Co-Development: Are you ready?
      Companion Diagnostics Co-Development: Are you ready?
      Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...
      Speaker: Janice Au-Young, PhD
      Presented at: Clinical Diagnostics Virtual Event Series 2013
      15
    AUG 22, 2013 | 3:00 PM
    C.E. CREDITS
    Evaluation challenges and regulatory considerations for next-generation sequencing and other high throughput genomic technology based clinical applications
    Evaluation challenges and regulatory considerations for next-generation...
    The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
    Speaker: Živana Težak, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    282
    AUG 22, 2013 | 3:00 PM
    Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
    Next-generation Cancer Care in the Age of Genomics, Precision...
    Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
    Speaker: C Jimmy Lin, MD, PhD, MHS
    Presented at: Genetics and Genomics Virtual Event Series 2013
    114
    AUG 22, 2013 | 2:00 PM
    Translation and Clinical Application of Innovative Genomic Analysis: Challenges Remain
    Translation and Clinical Application of Innovative Genomic Analysis:...
    The role of the human genome in normal and patho-biology is crucial. Applied in cancer care and in a variety of unknown disorder settings, it can provide key insights and crucial diagnostic/p...
    Speaker: Paul Billings, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    92
    AUG 22, 2013 | 1:00 PM
    Dominant regulation of gene expression by microRNAs
    Dominant regulation of gene expression by microRNAs
    MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
    Speaker: Noam Shomron, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    121
    AUG 22, 2013 | 12:00 PM
    C.E. CREDITS
    Exome Sequencing as a Diagnostic Tool
    Exome Sequencing as a Diagnostic Tool
    It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
    Speaker: Pinar Bayrak-Toydemir, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    66
     
     
  • AUG 22, 2013 | 12:00 PM
    Use of Whole Genome Sequencing in Clinical Practice
    Use of Whole Genome Sequencing in Clinical Practice
    Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
    Speaker: Howard J Jacob, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    74
    AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Clinical Interpretation of Sequence Variants
    Clinical Interpretation of Sequence Variants
    The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
    Speaker: Elaine Lyon, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    72
    AUG 22, 2013 | 9:00 AM
    C.E. CREDITS
    Management and Analysis of Pre-implantation Genetic Diagnosis Data
    Management and Analysis of Pre-implantation Genetic Diagnosis...
    During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
    Speaker: Deanne Taylor, MS, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    34
    AUG 22, 2013 | 7:00 AM
    C.E. CREDITS
    Warfarin Sensitivity Testing
    Warfarin Sensitivity Testing
    Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
    Speaker: Thomas P Moyer, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    64
    AUG 21, 2013 | 4:00 PM
    C.E. CREDITS
    The hidden layer of RNA regulation in human development
    The hidden layer of RNA regulation in human development
    High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
    Speaker: John Mattick, PhD,AO, FAA, FRCPA
    Presented at: Genetics and Genomics Virtual Event Series 2013
    132
     
     
  • AUG 21, 2013 | 2:00 PM
    C.E. CREDITS
    Comprehensive Chromosome Screening in the Human Embryo
    Comprehensive Chromosome Screening in the Human Embryo
    The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
    Speaker: Nathan R Treff, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    33
    AUG 21, 2013 | 2:00 PM
    C.E. CREDITS
    The role of protective genes in the exceptional longevity of humans
    The role of protective genes in the exceptional longevity of humans
    Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
    Speaker: Nir Barzilai, MD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    38
    AUG 21, 2013 | 2:00 PM
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
    Speaker: Patrice Milos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    96
    AUG 21, 2013 | 1:00 PM
    C.E. CREDITS
    In sickness and in health: variables effecting genome sequencing ethical issues
    In sickness and in health: variables effecting genome sequencing...
    In addition to the exciting promise that genome sequencing holds, concerns are also often described. These concerns relate to: privacy/confidentiality of findings; impact of findings on insur...
    Speaker: Kimberly Strong, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    49
    AUG 21, 2013 | 12:00 PM
    Noninvasive Cancer Genomics
    Noninvasive Cancer Genomics
    Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of to...
    Speaker: Charles Cantor, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    34
     
     
  • AUG 21, 2013 | 12:00 PM
    C.E. CREDITS
    Genetics of Coronary Artery Disease
    Genetics of Coronary Artery Disease
    Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
    Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
    Presented at: Genetics and Genomics Virtual Event Series 2013
    36
    AUG 21, 2013 | 10:00 AM
    C.E. CREDITS
    Integration of Genomics into Medical Practice: Educational Challenges
    Integration of Genomics into Medical Practice: Educational Challenges
    Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    80
    AUG 21, 2013 | 9:00 AM
    Adventures in Personal Genomics and Whole Omics Profiling
    Adventures in Personal Genomics and Whole Omics Profiling
    Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    3466
    AUG 21, 2013 | 8:00 AM
    C.E. CREDITS
    Clinical Applications in Pharmacogenetics
    Clinical Applications in Pharmacogenetics
    As a component of individualized medicine, pharmacogenetics (PGx) focuses on how genetic factors influence individual responses to specific medications. The clinical goals of pharmacogenetics...
    Speaker: Linnea Baudhuin, PhD, DABMG
    Presented at: Genetics and Genomics Virtual Event Series 2013
    71
    AUG 21, 2013 | 8:00 AM
    Post Genome-Wide Association Studies
    Post Genome-Wide Association Studies
    In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    105
     
     
  • AUG 21, 2013 | 8:00 AM
    C.E. CREDITS
    Implementation of genome sequencing in a clinical diagnostic laboratory
    Implementation of genome sequencing in a clinical diagnostic laboratory
    With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2013
    79
    AUG 21, 2013 | 7:00 AM
    Improving the Accuracy of Genome Sequencing and Interpretation
    Improving the Accuracy of Genome Sequencing and Interpretation
    Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
    Speaker: George Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    46
    AUG 21, 2013 | 6:00 AM
    C.E. CREDITS
    M-protein Evaluation in an Age of Automation: Capillary Electrophoresis, Free Light Chains & Heavy-Light Measurements
    M-protein Evaluation in an Age of Automation: Capillary Electrophoresis,...
    This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
    Speaker: David F Keren, MD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    46
    MAY 30, 2013 | 12:00 PM
    Companion Diagnostics Co-Development: Are you ready?
    Companion Diagnostics Co-Development: Are you ready?
    Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...
    Speaker: Janice Au-Young, PhD
    Presented at: Clinical Diagnostics Virtual Event Series 2013
    15
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