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    Rare Diseases

    Rare Diseases: A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. ... In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

    Webinars

    • APR 22, 2020 | 12:00 AM
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
      Speaker: Louisa Ive, MSc HCPC
      Presented at: Genetics Week Virtual Event Series 2020
      2
      APR 20, 2020 | 8:00 AM
      C.E. CREDITS
      Emergency patient management using coagulation assays
      Emergency patient management using coagulation assays
      Explore emergency hemostasis testing approaches, from rapid lab assays to viscoelastic methods, for managing bleeding patients....
      Speaker: Wayne Chandler, MD
      Presented at: Stago EdVantage Virtual University
      Sponsored By: Diagnostica Stago, Inc.
      17 5
      APR 14, 2020 | 9:00 AM
      Gibco Cell Culture Heroes: Work From Home Edition
      Gibco Cell Culture Heroes: Work From Home Edition
      DATE: April 14, 2020 TIME: 9:00am PDT, 12:00pm EDT Besides being Gibco Cell Culture Heroes, what do Vivek, Sandra, Daisy, Ameet and Kristine all have in common? They are all stuck at home fo...
      Speaker: Kristine Wadosky, PhD , Ameet Chimote, PhD , Elizabeth Delery, PhD , Daisy Shu, B.Optom, PhD , Vivek Kamat, PhD , Sandra Hammer, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      12 1
      MAR 27, 2020 | 9:00 AM
      Modified Dental Composite for Bone Repair
      Modified Dental Composite for Bone Repair
      DATE: March 27, 2020 TIME: 9:00am PDT, 12:00pm EDT Osteoporosis causes a decrease in bone density, along with deterioration of the bone’s microarchitecture at a faster rate than normal...
      Speaker: Mayda Arshad
      Sponsored By: Thermo Fisher Scientific/Gibco
      11
      MAR 03, 2020 | 9:00 AM
      The Importance of CPO Carriers Within the Healthcare System
      The Importance of CPO Carriers Within the Healthcare System
      DATE: March 3, 2020 TIME: 9:00am PT, 12:00pm ET Despite the advances of new drugs and the lowering of carbapenem breakpoints to enhance detection of CRE, there should be no complacency about...
      Speaker: Kenneth Thomson, PhD
      Presented at: BD MAX Webinar Library
      Sponsored By: BD
      5 1
      FEB 05, 2020 | 8:00 AM
      C.E. CREDITS
      Emerging Issues in the Coagulation Laboratory
      Emerging Issues in the Coagulation Laboratory
      Learn how new hemophilia and anticoagulant therapies impact coagulation assays and clinical decisions in our educational session....
      Speaker: Donna Castellone, MS, MASCP, MT(ASCP) SH
      Presented at: Stago EdVantage Virtual University
      Sponsored By: Diagnostica Stago, Inc.
      10 1
      JAN 30, 2020 | 9:00 AM
      An Automated Cancer Organoid Culture Platform to Accelerate Research and Drug Screening
      An Automated Cancer Organoid Culture Platform to Accelerate Research...
      DATE: January 30, 2020 TIME: 9:00am PST, 12:00pm EST Recent advances in in vitro 3D cellular culture technologies, such as organoids, rapidly developed and established novel, more physiologi...
      Speaker: Brooke Schuster
      Sponsored By: Thermo Fisher Scientific/Gibco
      10
      DEC 17, 2019 | 9:00 AM
      The role of SIRT1/LXR signaling in diabetic retinopathy
      The role of SIRT1/LXR signaling in diabetic retinopathy
      DATE: December 17, 2019TIME: 9:00am PST, 12:00pm EST Purpose: Liver x receptors (LXRs) are hypothesized to serve as a link between lipid metabolism and inflammation by prom...
      Speaker: Sandra Hammer, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      6
      DEC 17, 2019 | 8:00 AM
      Single-Cell Phosphoprotein Analysis with CyTOF: From Training to Immuno-Oncology Clinical Research
      Single-Cell Phosphoprotein Analysis with CyTOF: From Training...
      DATE: December 17, 2019TIME: 8:00am PSTMass cytometry instruments simultaneously measure >50 cellular features, with a typical experiment including millions of cells. Dysregulated...
      Speaker: Jonathan Irish, PhD , Caroline E. Roe, BS
      Sponsored By: Standard BioTools
      7 2
      NOV 21, 2019 | 9:00 AM
      The role of immune cells and immune checkpoints in multiple myeloma
      The role of immune cells and immune checkpoints in multiple myeloma
      DATE: November 21, 2019TIME: 9:00am PST, 12:00pm EST Multiple Myeloma is a disease of terminally differentiated plasma cells with the massive production of monoclonal immunoglobu...
      Speaker: Nathalie Heider-Hönatsch, M.Sc.
      Sponsored By: Thermo Fisher Scientific/Gibco
      11
      NOV 12, 2019 | 10:00 AM
      Leveraging single cell copy number to resolve tumor clonality
      Leveraging single cell copy number to resolve tumor clonality
      DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
      Speaker: Dr. David Craig
      Sponsored By: 10x Genomics
      9 1
      OCT 31, 2019 | 9:00 AM
      Investigation of Endothelial Cell Viability and Growth on 3D printed GelMa Vascular Networks
      Investigation of Endothelial Cell Viability and Growth on 3D printed...
      DATE: October 31, 2019TIME: 9:00am PDT, 12:00pm EDT INTRODUCTION: A major limitation for the development of 3D engineered tissues is the absence of viable and perfusable...
      Speaker: Chrisoula Chappell
      Sponsored By: Thermo Fisher Scientific/Gibco
      8
      MAY 23, 2019 | 9:00 AM
      Doing More with Less: Stem Cells Regulate Their Fate by Altering Their Stiffness
      Doing More with Less: Stem Cells Regulate Their Fate by Altering...
      DATE:  May 23, 2019TIME:   9:00am PDT, 12:00pm EDT Although mesenchymal stem/stromal cells (MSCs) chondrogenic differentiation has been thoroughly investigated...
      Speaker: Melika Sarem, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      7
      APR 25, 2019 | 1:30 PM
      In Vivo Models for Infectious Disease Research Through the Years
      In Vivo Models for Infectious Disease Research Through the Years
      Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
      Speaker: Matthew Flegal, BS, SRS
      Presented at: Infectious Disease Virtual Event Series 2019
      4 1
      APR 25, 2019 | 12:00 PM
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
      Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
      Speaker: Faramarz Valafar, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      2
      APR 25, 2019 | 10:30 AM
      Advances in Point-Of-Care Testing for Infectious Diseases
      Advances in Point-Of-Care Testing for Infectious Diseases
      Point-of-care testing (POCT) is diagnostic testing at the time and place of patient care in a physician’s office, an ambulance, a mobile clinic, at home or in hospital. Rapid POC testi...
      Speaker: Krishnan Allampallam, PhD , Paul Lambotte, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      Sponsored By: Chembio
      4 1
      APR 25, 2019 | 10:30 AM
      Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
      Overcoming Complexity to Elucidate the Role of Immunoglobulin...
      Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
      Speaker: Corey Watson, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      1
      APR 25, 2019 | 9:00 AM
      Keynote Presentation: The Next Pandemic
      Keynote Presentation: The Next Pandemic
      “Emerging infections” are those that appear suddenly or are rapidly increasing in incidence or geographic range (e.g., HIV/AIDS, Ebola, SARS, Middle East Respiratory Syndrome [MER...
      Speaker: Stephen S. Morse, PhD, FAAM, F.A.C.E.
      Presented at: Infectious Disease Virtual Event Series 2019
      6
      APR 25, 2019 | 7:30 AM
      Keynote Presentation: Ebola Virus Disease - 2019 and Beyond
      Keynote Presentation: Ebola Virus Disease - 2019 and Beyond
      The Ebola virus disease outbreak in West Africa in 2014-2016 was the largest of its kind in history. This was the first outbreak that involved a randomized clinical trial for therapeutics, a...
      Speaker: Colleen Kraft, MD, MSc
      Presented at: Infectious Disease Virtual Event Series 2019
      5
      APR 25, 2019 | 6:00 AM
      Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
      Long-Read Sequencing and Infectious Disease: New Insights Into...
      To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
      Speaker: Meredith Ashby, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      Sponsored By: PacBio
      2
      APR 25, 2019 | 6:00 AM
      Is Bacterial Vaginosis a Sexually Transmitted Infection?
      Is Bacterial Vaginosis a Sexually Transmitted Infection?
      Despite over 60+ years of research, the etiology of bacterial vaginosis (BV), the most common vaginal infection, remains controversial. Epidemiological data strongly suggest that BV is acquir...
      Speaker: Christina Muzny, MD, MSPH, FACP
      Presented at: Infectious Disease Virtual Event Series 2019
      6
      MAR 28, 2019 | 12:00 PM
      The Intersection of Nutrition, Microbiome and Medical Cannabis
      The Intersection of Nutrition, Microbiome and Medical Cannabis
      Whole food plant-based diets and medical cannabis have shared and continues to share similar levels of scrutiny, doubt, and stigma by the traditional medical community. One reason for the med...
      Speaker: Debra Kimless, MD
      Presented at: Cannabis Sciences Virtual Event Series 2019
      6
      MAR 14, 2019 | 9:00 AM
      A Gene Expression Based Screening Platform for Mouse Models of Late-Onset Alzheimer's Disease
      A Gene Expression Based Screening Platform for Mouse Models of...
      Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
      Speaker: Greg Carter, PhD
      Presented at: Neuroscience Virtual Event Series 2019
      Sponsored By: NanoString Technologies
      2
      MAR 14, 2019 | 6:00 AM
      Keynote Presentation: Environmental Risk Mechanisms for Psychiatric Disorders
      Keynote Presentation: Environmental Risk Mechanisms for Psychiatric...
      The size and burden of mental illness should ideally prompt a strategy of preemption and early intervention. On the neuroscientific side, this leads to the question of brain mechanisms of ris...
      Speaker: Andreas Meyer-Lindenberg, MD, MSc, MBA
      Presented at: Neuroscience Virtual Event Series 2019
      1
    APR 22, 2020 | 12:00 AM
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
    Speaker: Louisa Ive, MSc HCPC
    Presented at: Genetics Week Virtual Event Series 2020
    2
    APR 20, 2020 | 8:00 AM
    C.E. CREDITS
    Emergency patient management using coagulation assays
    Emergency patient management using coagulation assays
    Explore emergency hemostasis testing approaches, from rapid lab assays to viscoelastic methods, for managing bleeding patients....
    Speaker: Wayne Chandler, MD
    Presented at: Stago EdVantage Virtual University
    Sponsored By: Diagnostica Stago, Inc.
    17 5
    APR 14, 2020 | 9:00 AM
    Gibco Cell Culture Heroes: Work From Home Edition
    Gibco Cell Culture Heroes: Work From Home Edition
    DATE: April 14, 2020 TIME: 9:00am PDT, 12:00pm EDT Besides being Gibco Cell Culture Heroes, what do Vivek, Sandra, Daisy, Ameet and Kristine all have in common? They are all stuck at home fo...
    Speaker: Kristine Wadosky, PhD , Ameet Chimote, PhD , Elizabeth Delery, PhD , Daisy Shu, B.Optom, PhD , Vivek Kamat, PhD , Sandra Hammer, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    12 1
    MAR 27, 2020 | 9:00 AM
    Modified Dental Composite for Bone Repair
    Modified Dental Composite for Bone Repair
    DATE: March 27, 2020 TIME: 9:00am PDT, 12:00pm EDT Osteoporosis causes a decrease in bone density, along with deterioration of the bone’s microarchitecture at a faster rate than normal...
    Speaker: Mayda Arshad
    Sponsored By: Thermo Fisher Scientific/Gibco
    11
    MAR 03, 2020 | 9:00 AM
    The Importance of CPO Carriers Within the Healthcare System
    The Importance of CPO Carriers Within the Healthcare System
    DATE: March 3, 2020 TIME: 9:00am PT, 12:00pm ET Despite the advances of new drugs and the lowering of carbapenem breakpoints to enhance detection of CRE, there should be no complacency about...
    Speaker: Kenneth Thomson, PhD
    Presented at: BD MAX Webinar Library
    Sponsored By: BD
    5 1
     
     
  • FEB 05, 2020 | 8:00 AM
    C.E. CREDITS
    Emerging Issues in the Coagulation Laboratory
    Emerging Issues in the Coagulation Laboratory
    Learn how new hemophilia and anticoagulant therapies impact coagulation assays and clinical decisions in our educational session....
    Speaker: Donna Castellone, MS, MASCP, MT(ASCP) SH
    Presented at: Stago EdVantage Virtual University
    Sponsored By: Diagnostica Stago, Inc.
    10 1
    JAN 30, 2020 | 9:00 AM
    An Automated Cancer Organoid Culture Platform to Accelerate Research and Drug Screening
    An Automated Cancer Organoid Culture Platform to Accelerate Research...
    DATE: January 30, 2020 TIME: 9:00am PST, 12:00pm EST Recent advances in in vitro 3D cellular culture technologies, such as organoids, rapidly developed and established novel, more physiologi...
    Speaker: Brooke Schuster
    Sponsored By: Thermo Fisher Scientific/Gibco
    10
    DEC 17, 2019 | 9:00 AM
    The role of SIRT1/LXR signaling in diabetic retinopathy
    The role of SIRT1/LXR signaling in diabetic retinopathy
    DATE: December 17, 2019TIME: 9:00am PST, 12:00pm EST Purpose: Liver x receptors (LXRs) are hypothesized to serve as a link between lipid metabolism and inflammation by prom...
    Speaker: Sandra Hammer, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    6
    DEC 17, 2019 | 8:00 AM
    Single-Cell Phosphoprotein Analysis with CyTOF: From Training to Immuno-Oncology Clinical Research
    Single-Cell Phosphoprotein Analysis with CyTOF: From Training...
    DATE: December 17, 2019TIME: 8:00am PSTMass cytometry instruments simultaneously measure >50 cellular features, with a typical experiment including millions of cells. Dysregulated...
    Speaker: Jonathan Irish, PhD , Caroline E. Roe, BS
    Sponsored By: Standard BioTools
    7 2
    NOV 21, 2019 | 9:00 AM
    The role of immune cells and immune checkpoints in multiple myeloma
    The role of immune cells and immune checkpoints in multiple myeloma
    DATE: November 21, 2019TIME: 9:00am PST, 12:00pm EST Multiple Myeloma is a disease of terminally differentiated plasma cells with the massive production of monoclonal immunoglobu...
    Speaker: Nathalie Heider-Hönatsch, M.Sc.
    Sponsored By: Thermo Fisher Scientific/Gibco
    11
     
     
  • NOV 12, 2019 | 10:00 AM
    Leveraging single cell copy number to resolve tumor clonality
    Leveraging single cell copy number to resolve tumor clonality
    DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
    Speaker: Dr. David Craig
    Sponsored By: 10x Genomics
    9 1
    OCT 31, 2019 | 9:00 AM
    Investigation of Endothelial Cell Viability and Growth on 3D printed GelMa Vascular Networks
    Investigation of Endothelial Cell Viability and Growth on 3D printed...
    DATE: October 31, 2019TIME: 9:00am PDT, 12:00pm EDT INTRODUCTION: A major limitation for the development of 3D engineered tissues is the absence of viable and perfusable...
    Speaker: Chrisoula Chappell
    Sponsored By: Thermo Fisher Scientific/Gibco
    8
    MAY 23, 2019 | 9:00 AM
    Doing More with Less: Stem Cells Regulate Their Fate by Altering Their Stiffness
    Doing More with Less: Stem Cells Regulate Their Fate by Altering...
    DATE:  May 23, 2019TIME:   9:00am PDT, 12:00pm EDT Although mesenchymal stem/stromal cells (MSCs) chondrogenic differentiation has been thoroughly investigated...
    Speaker: Melika Sarem, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    7
    APR 25, 2019 | 1:30 PM
    In Vivo Models for Infectious Disease Research Through the Years
    In Vivo Models for Infectious Disease Research Through the Years
    Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
    Speaker: Matthew Flegal, BS, SRS
    Presented at: Infectious Disease Virtual Event Series 2019
    4 1
    APR 25, 2019 | 12:00 PM
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
    Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
    Speaker: Faramarz Valafar, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    2
     
     
  • APR 25, 2019 | 10:30 AM
    Advances in Point-Of-Care Testing for Infectious Diseases
    Advances in Point-Of-Care Testing for Infectious Diseases
    Point-of-care testing (POCT) is diagnostic testing at the time and place of patient care in a physician’s office, an ambulance, a mobile clinic, at home or in hospital. Rapid POC testi...
    Speaker: Krishnan Allampallam, PhD , Paul Lambotte, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    Sponsored By: Chembio
    4 1
    APR 25, 2019 | 10:30 AM
    Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
    Overcoming Complexity to Elucidate the Role of Immunoglobulin...
    Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
    Speaker: Corey Watson, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    1
    APR 25, 2019 | 9:00 AM
    Keynote Presentation: The Next Pandemic
    Keynote Presentation: The Next Pandemic
    “Emerging infections” are those that appear suddenly or are rapidly increasing in incidence or geographic range (e.g., HIV/AIDS, Ebola, SARS, Middle East Respiratory Syndrome [MER...
    Speaker: Stephen S. Morse, PhD, FAAM, F.A.C.E.
    Presented at: Infectious Disease Virtual Event Series 2019
    6
    APR 25, 2019 | 7:30 AM
    Keynote Presentation: Ebola Virus Disease - 2019 and Beyond
    Keynote Presentation: Ebola Virus Disease - 2019 and Beyond
    The Ebola virus disease outbreak in West Africa in 2014-2016 was the largest of its kind in history. This was the first outbreak that involved a randomized clinical trial for therapeutics, a...
    Speaker: Colleen Kraft, MD, MSc
    Presented at: Infectious Disease Virtual Event Series 2019
    5
    APR 25, 2019 | 6:00 AM
    Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
    Long-Read Sequencing and Infectious Disease: New Insights Into...
    To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
    Speaker: Meredith Ashby, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    Sponsored By: PacBio
    2
     
     
  • APR 25, 2019 | 6:00 AM
    Is Bacterial Vaginosis a Sexually Transmitted Infection?
    Is Bacterial Vaginosis a Sexually Transmitted Infection?
    Despite over 60+ years of research, the etiology of bacterial vaginosis (BV), the most common vaginal infection, remains controversial. Epidemiological data strongly suggest that BV is acquir...
    Speaker: Christina Muzny, MD, MSPH, FACP
    Presented at: Infectious Disease Virtual Event Series 2019
    6
    MAR 28, 2019 | 12:00 PM
    The Intersection of Nutrition, Microbiome and Medical Cannabis
    The Intersection of Nutrition, Microbiome and Medical Cannabis
    Whole food plant-based diets and medical cannabis have shared and continues to share similar levels of scrutiny, doubt, and stigma by the traditional medical community. One reason for the med...
    Speaker: Debra Kimless, MD
    Presented at: Cannabis Sciences Virtual Event Series 2019
    6
    MAR 14, 2019 | 9:00 AM
    A Gene Expression Based Screening Platform for Mouse Models of Late-Onset Alzheimer's Disease
    A Gene Expression Based Screening Platform for Mouse Models of...
    Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
    Speaker: Greg Carter, PhD
    Presented at: Neuroscience Virtual Event Series 2019
    Sponsored By: NanoString Technologies
    2
    MAR 14, 2019 | 6:00 AM
    Keynote Presentation: Environmental Risk Mechanisms for Psychiatric Disorders
    Keynote Presentation: Environmental Risk Mechanisms for Psychiatric...
    The size and burden of mental illness should ideally prompt a strategy of preemption and early intervention. On the neuroscientific side, this leads to the question of brain mechanisms of ris...
    Speaker: Andreas Meyer-Lindenberg, MD, MSc, MBA
    Presented at: Neuroscience Virtual Event Series 2019
    1
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