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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 14, 2021 | 4:30 PM
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
      When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
      Speaker: Brian Krueger, PhD
      Presented at: Coronavirus Series
      Sponsored By: PacBio
      24
      MAR 16, 2021 | 8:00 AM
      The latest developments for enriching and analyzing antigen- and virus-specific T cells
      The latest developments for enriching and analyzing antigen- and...
      DATE: March 09, 2021 TIME: 08:00am PST The COVID-19 pandemic has placed urgency on precise analysis of rare antigen- and virus-specific T cells. At Miltenyi Biotec, we offer a complete workf...
      Speaker: Lorenz Fülle, PhD
      Sponsored By: Miltenyi Biotec
      12
      FEB 09, 2021 | 8:00 AM
      Endpoint assays for the characterization of rare and therapy-resistant cells in cancer
      Endpoint assays for the characterization of rare and therapy-resistant...
      DATE: February 09, 2021 TIME: 08:00am PST Flow cytometry immunophenotyping has become one of the mainstream applications for the diagnosis and classification of several hematologic neoplasms...
      Speaker: Jordi Petriz
      Sponsored By: Thermo Fisher Scientific
      8
      DEC 03, 2020 | 10:30 AM
      The Immunology of COVID-19: A dynamic immune signature for prognosis and spatial transcriptomics of lung tissue
      The Immunology of COVID-19: A dynamic immune signature for prognosis...
      The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in December 2019 and has spread globally, causing a pandemic of respiratory illness designated coronavirus disease 20...
      Speaker: Arutha Kulasinghe, PhD , Miguel Muñoz-Ruiz, PhD
      Presented at: Coronavirus Series
      Sponsored By: NanoString Technologies
      3
      NOV 19, 2020 | 9:00 AM
      From Protein Structures to Drug Discovery: Novel therapeutic opportunities.
      From Protein Structures to Drug Discovery: Novel therapeutic opportunities.
      DATE: November 19, 2020 TIME: 9:00am PT, 12am ET Knowledge of the three-dimensional structure of therapeutically relevant targets has become an essential step in the pipeline of drug discove...
      Speaker: Amal Hassan Ali
      Sponsored By: Thermo Fisher Scientific
      16 1
      NOV 17, 2020 | 8:00 AM
      Key Features of Immune Cells During SARS-CoV2 Infection
      Key Features of Immune Cells During SARS-CoV2 Infection
      Date: November 17, 2020 Time: 8:00am COVID-19 is a complex pathological condition caused by infection with SARS-CoV. Different features have been observed in patients with a severe dis...
      Speaker: Sara De Biasi
      Sponsored By: Thermo Fisher Scientific
      13
      NOV 12, 2020 | 1:30 PM
      Covid-19 Testing and the role of Antigen assays today and moving forward
      Covid-19 Testing and the role of Antigen assays today and moving...
      Today's presentation will cover the following topics from the perspective of a NYC based Laboratory: What have we learned year to date about CoV-2 and specifically how diagnostic testing...
      Speaker: Vincent Streva, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
      Sponsored By: Diasorin
      1
      NOV 05, 2020 | 9:00 AM
      Panel Presentation: The NIH HEAL Initiative: A Bold Interagency Response to the Opioid Crisis
      Panel Presentation: The NIH HEAL Initiative: A Bold Interagency...
      More than 50,700 Americans died of opioid overdose in 2019, and more than 1.6 million Americans live with addiction to opioids. Moreover, more than 50 million Americans suffer from chronic p...
      Speaker: Rebecca G. Baker, PhD , Linda L. Porter, PhD , Jack B. Stein, PhD
      Presented at: Opioid Crisis Virtual Event Series 2020
      1
      OCT 08, 2020 | 4:30 PM
      Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system
      Multiplex detection of oncogenic mutations using LNA-based assays...
      Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system Digital PCR (dPCR) enables specific and sensitive detection of genetic alterations in onc...
      Speaker: Dr. Özlem Karalay
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      Sponsored By: QIAGEN
      2
      SEP 23, 2020 | 6:30 AM
      Mass Cytometry in Translational Research: Session I
      Mass Cytometry in Translational Research: Session I
      Single-cell mass cytometry identifies mechanisms of resistance to immunotherapy in AML 6:30–7:00 am PDT Presented By: Shelley Herbrich, PhD Understanding CD19 negative relapse followin...
      Speaker: Shelley Herbrich, PhD , Kara L. Davis, DO , Bernd Bodenmiller, PhD
      Presented at: 9th Annual Fluidigm Mass Cytometry Virtual Summit
      2
      SEP 10, 2020 | 9:00 AM
      An Insider's Look: How One Parameter Can Optimize Key Phases of Bioprocessing Workflows
      An Insider's Look: How One Parameter Can Optimize Key Phases of...
      Date: September 10, 2020 Time: 9:00am (PDT), 12:00pm (EDT) Osmolality testing is relevant throughout the entire bioprocessing workflow. As customers look to refine mAb and gene therapy workf...
      Speaker: Tara Barreira , Kristeena Wright
      Sponsored By: Advanced Instruments
      7
      AUG 06, 2020 | 10:00 AM
      Part III: Exploring the inhibition of Alk2 kinase and dimerization of EGFR kinase
      Part III: Exploring the inhibition of Alk2 kinase and dimerization...
      One of the most common pathologically relevant mutated variants of ALK-2 (activin receptor-like kinase-2) has a point mutation (R206H) in its Ser/Thr kinase domain that promotes uncontrolled...
      Speaker: Kumar Ashtekar, PhD
      Presented at: 2020 Beckman Symposium
      1
      JUL 02, 2020 | 2:00 PM
      Customized Theragen PMRA chip : design history and application examples
      Customized Theragen PMRA chip : design history and application...
      Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
      Speaker: Kyung-Won Hong, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 02, 2020 | 1:30 PM
      Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
      Molecular Diagnosis of Genetic Diseases using CE in an era of...
      Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
      Speaker: Ashwin Dalal, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      3
      JUL 02, 2020 | 12:45 PM
      AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution for Breeding Programs
      AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution...
      Molecular breeding can significantly reduce the cost and time required to deliver improved plant and animal species for agricultural use. Advancements in genomic technologies are acceleratin...
      Speaker: Srinivas Chadaram, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 2:30 PM
      Reproductive genetic solution on ion torrent NGS
      Reproductive genetic solution on ion torrent NGS
      NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
      Speaker: Ritu Hari, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      2
      JUN 18, 2020 | 9:00 AM
      Unveiling the role of T cell dysfunction in the development and progression of glioblastoma
      Unveiling the role of T cell dysfunction in the development and...
      DATE: June 18, 2020 TIME: 9:00am PDT, 12:00pm EDT Despite the success of immunotherapy against several malignancies including melanoma and lung adenocarcinoma, glioblastoma remains the excep...
      Speaker: Felipe Galvez Cancino, Ph.D.
      Sponsored By: Thermo Fisher Scientific/Gibco
      18 2
      MAY 27, 2020 | 9:00 AM
      Enrichment & analysis of rare antigen & virus-specific T cells
      Enrichment & analysis of rare antigen & virus-specific T cells
      DATE: May 27, 2020 TIME: 9:00am PT Analysis of antigen- and virus-specific T cells is essential to the understanding of fundamental immunological processes in the contexts of e.g. infectious...
      Speaker: Marcello Stein, PhD.
      Sponsored By: Miltenyi Biotec
      20
      MAY 20, 2020 | 7:30 AM
      Keynote Presentation: Bridging Multiscale Physiological Systems via Microfluidics- from single cell to tissue-scale to organ-scale
      Keynote Presentation: Bridging Multiscale Physiological Systems...
      Precision medicine is the paradigm to develop treatments for patients based on molecular-targets that are effective in vivo when administered. In addition to identifying the molecular and ce...
      Speaker: Abraham Lee
      Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
      1
      MAY 14, 2020 | 7:05 PM
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
      Speaker: Timothy Looney, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 7:05 PM
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
      B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
      Speaker: Timothy Looney, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      APR 24, 2020 | 8:00 AM
      The International Council for Standardisation in Hematology (ICSH) recommendations for Hemostasis Critical Values, Tests, and Reporting - a stepwise description for the committee's decisions
      The International Council for Standardisation in Hematology (ICSH)...
      The International Council for Standardization in Haematology (ICSH) is a nonprofit organization dedicated to providing open-access guidance documents to enhance the quality of laboratory tes...
      Speaker: Bob Gosselin
      Sponsored By: Diagnostica Stago, Inc.
      10
      APR 22, 2020 | 8:00 AM
      C.E. CREDITS
      The NEW Coag Value Playbook...Embrace the Power of Local Testing
      The NEW Coag Value Playbook...Embrace the Power of Local Testing
      Discover strategies for labs to optimize coagulation testing, improve patient outcomes, and strengthen their role in clinical care teams....
      Speaker: Eleanor Herriman, MD, MBA , Oksana Volod, MD
      Presented at: Stago EdVantage Virtual University
      Sponsored By: Diagnostica Stago, Inc.
      7
      APR 22, 2020 | 12:00 AM
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
      The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
      Speaker: Ben Liesfeld, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
    APR 14, 2021 | 4:30 PM
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
    When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
    Speaker: Brian Krueger, PhD
    Presented at: Coronavirus Series
    Sponsored By: PacBio
    24
    MAR 16, 2021 | 8:00 AM
    The latest developments for enriching and analyzing antigen- and virus-specific T cells
    The latest developments for enriching and analyzing antigen- and...
    DATE: March 09, 2021 TIME: 08:00am PST The COVID-19 pandemic has placed urgency on precise analysis of rare antigen- and virus-specific T cells. At Miltenyi Biotec, we offer a complete workf...
    Speaker: Lorenz Fülle, PhD
    Sponsored By: Miltenyi Biotec
    12
    FEB 09, 2021 | 8:00 AM
    Endpoint assays for the characterization of rare and therapy-resistant cells in cancer
    Endpoint assays for the characterization of rare and therapy-resistant...
    DATE: February 09, 2021 TIME: 08:00am PST Flow cytometry immunophenotyping has become one of the mainstream applications for the diagnosis and classification of several hematologic neoplasms...
    Speaker: Jordi Petriz
    Sponsored By: Thermo Fisher Scientific
    8
    DEC 03, 2020 | 10:30 AM
    The Immunology of COVID-19: A dynamic immune signature for prognosis and spatial transcriptomics of lung tissue
    The Immunology of COVID-19: A dynamic immune signature for prognosis...
    The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in December 2019 and has spread globally, causing a pandemic of respiratory illness designated coronavirus disease 20...
    Speaker: Arutha Kulasinghe, PhD , Miguel Muñoz-Ruiz, PhD
    Presented at: Coronavirus Series
    Sponsored By: NanoString Technologies
    3
    NOV 19, 2020 | 9:00 AM
    From Protein Structures to Drug Discovery: Novel therapeutic opportunities.
    From Protein Structures to Drug Discovery: Novel therapeutic opportunities.
    DATE: November 19, 2020 TIME: 9:00am PT, 12am ET Knowledge of the three-dimensional structure of therapeutically relevant targets has become an essential step in the pipeline of drug discove...
    Speaker: Amal Hassan Ali
    Sponsored By: Thermo Fisher Scientific
    16 1
     
     
  • NOV 17, 2020 | 8:00 AM
    Key Features of Immune Cells During SARS-CoV2 Infection
    Key Features of Immune Cells During SARS-CoV2 Infection
    Date: November 17, 2020 Time: 8:00am COVID-19 is a complex pathological condition caused by infection with SARS-CoV. Different features have been observed in patients with a severe dis...
    Speaker: Sara De Biasi
    Sponsored By: Thermo Fisher Scientific
    13
    NOV 12, 2020 | 1:30 PM
    Covid-19 Testing and the role of Antigen assays today and moving forward
    Covid-19 Testing and the role of Antigen assays today and moving...
    Today's presentation will cover the following topics from the perspective of a NYC based Laboratory: What have we learned year to date about CoV-2 and specifically how diagnostic testing...
    Speaker: Vincent Streva, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
    Sponsored By: Diasorin
    1
    NOV 05, 2020 | 9:00 AM
    Panel Presentation: The NIH HEAL Initiative: A Bold Interagency Response to the Opioid Crisis
    Panel Presentation: The NIH HEAL Initiative: A Bold Interagency...
    More than 50,700 Americans died of opioid overdose in 2019, and more than 1.6 million Americans live with addiction to opioids. Moreover, more than 50 million Americans suffer from chronic p...
    Speaker: Rebecca G. Baker, PhD , Linda L. Porter, PhD , Jack B. Stein, PhD
    Presented at: Opioid Crisis Virtual Event Series 2020
    1
    OCT 08, 2020 | 4:30 PM
    Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system
    Multiplex detection of oncogenic mutations using LNA-based assays...
    Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system Digital PCR (dPCR) enables specific and sensitive detection of genetic alterations in onc...
    Speaker: Dr. Özlem Karalay
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    Sponsored By: QIAGEN
    2
    SEP 23, 2020 | 6:30 AM
    Mass Cytometry in Translational Research: Session I
    Mass Cytometry in Translational Research: Session I
    Single-cell mass cytometry identifies mechanisms of resistance to immunotherapy in AML 6:30–7:00 am PDT Presented By: Shelley Herbrich, PhD Understanding CD19 negative relapse followin...
    Speaker: Shelley Herbrich, PhD , Kara L. Davis, DO , Bernd Bodenmiller, PhD
    Presented at: 9th Annual Fluidigm Mass Cytometry Virtual Summit
    2
     
     
  • SEP 10, 2020 | 9:00 AM
    An Insider's Look: How One Parameter Can Optimize Key Phases of Bioprocessing Workflows
    An Insider's Look: How One Parameter Can Optimize Key Phases of...
    Date: September 10, 2020 Time: 9:00am (PDT), 12:00pm (EDT) Osmolality testing is relevant throughout the entire bioprocessing workflow. As customers look to refine mAb and gene therapy workf...
    Speaker: Tara Barreira , Kristeena Wright
    Sponsored By: Advanced Instruments
    7
    AUG 06, 2020 | 10:00 AM
    Part III: Exploring the inhibition of Alk2 kinase and dimerization of EGFR kinase
    Part III: Exploring the inhibition of Alk2 kinase and dimerization...
    One of the most common pathologically relevant mutated variants of ALK-2 (activin receptor-like kinase-2) has a point mutation (R206H) in its Ser/Thr kinase domain that promotes uncontrolled...
    Speaker: Kumar Ashtekar, PhD
    Presented at: 2020 Beckman Symposium
    1
    JUL 02, 2020 | 2:00 PM
    Customized Theragen PMRA chip : design history and application examples
    Customized Theragen PMRA chip : design history and application...
    Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
    Speaker: Kyung-Won Hong, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 02, 2020 | 1:30 PM
    Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
    Molecular Diagnosis of Genetic Diseases using CE in an era of...
    Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
    Speaker: Ashwin Dalal, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    3
    JUL 02, 2020 | 12:45 PM
    AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution for Breeding Programs
    AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution...
    Molecular breeding can significantly reduce the cost and time required to deliver improved plant and animal species for agricultural use. Advancements in genomic technologies are acceleratin...
    Speaker: Srinivas Chadaram, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
     
     
  • JUL 01, 2020 | 2:30 PM
    Reproductive genetic solution on ion torrent NGS
    Reproductive genetic solution on ion torrent NGS
    NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
    Speaker: Ritu Hari, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    2
    JUN 18, 2020 | 9:00 AM
    Unveiling the role of T cell dysfunction in the development and progression of glioblastoma
    Unveiling the role of T cell dysfunction in the development and...
    DATE: June 18, 2020 TIME: 9:00am PDT, 12:00pm EDT Despite the success of immunotherapy against several malignancies including melanoma and lung adenocarcinoma, glioblastoma remains the excep...
    Speaker: Felipe Galvez Cancino, Ph.D.
    Sponsored By: Thermo Fisher Scientific/Gibco
    18 2
    MAY 27, 2020 | 9:00 AM
    Enrichment & analysis of rare antigen & virus-specific T cells
    Enrichment & analysis of rare antigen & virus-specific T cells
    DATE: May 27, 2020 TIME: 9:00am PT Analysis of antigen- and virus-specific T cells is essential to the understanding of fundamental immunological processes in the contexts of e.g. infectious...
    Speaker: Marcello Stein, PhD.
    Sponsored By: Miltenyi Biotec
    20
    MAY 20, 2020 | 7:30 AM
    Keynote Presentation: Bridging Multiscale Physiological Systems via Microfluidics- from single cell to tissue-scale to organ-scale
    Keynote Presentation: Bridging Multiscale Physiological Systems...
    Precision medicine is the paradigm to develop treatments for patients based on molecular-targets that are effective in vivo when administered. In addition to identifying the molecular and ce...
    Speaker: Abraham Lee
    Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
    1
    MAY 14, 2020 | 7:05 PM
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
    Speaker: Timothy Looney, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
     
     
  • MAY 14, 2020 | 7:05 PM
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    Haemato-Oncology Applications of BCR Immune Repertoire Sequencing
    B-cell lymphomas and leukemias originate from the malignant transformation and proliferation of one or a small number of B cells. Since each B-cell expresses distinct B-cell receptors (BCRs)...
    Speaker: Timothy Looney, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    APR 24, 2020 | 8:00 AM
    The International Council for Standardisation in Hematology (ICSH) recommendations for Hemostasis Critical Values, Tests, and Reporting - a stepwise description for the committee's decisions
    The International Council for Standardisation in Hematology (ICSH)...
    The International Council for Standardization in Haematology (ICSH) is a nonprofit organization dedicated to providing open-access guidance documents to enhance the quality of laboratory tes...
    Speaker: Bob Gosselin
    Sponsored By: Diagnostica Stago, Inc.
    10
    APR 22, 2020 | 8:00 AM
    C.E. CREDITS
    The NEW Coag Value Playbook...Embrace the Power of Local Testing
    The NEW Coag Value Playbook...Embrace the Power of Local Testing
    Discover strategies for labs to optimize coagulation testing, improve patient outcomes, and strengthen their role in clinical care teams....
    Speaker: Eleanor Herriman, MD, MBA , Oksana Volod, MD
    Presented at: Stago EdVantage Virtual University
    Sponsored By: Diagnostica Stago, Inc.
    7
    APR 22, 2020 | 12:00 AM
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
    The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
    Speaker: Ben Liesfeld, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
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