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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

    • OCT 25, 2023 | 8:30 PM
      Flow cytometry as you have never seen it before
      Flow cytometry as you have never seen it before
      The CytPix is a flow cytometer that can simultaneously collect fluorescence data and high-resolution brightfield images of individual cells. This allows to better understand the morphology o...
      Speaker: Jordi Petriz
      Sponsored By: Thermo Fisher Scientific
      11
      OCT 25, 2023 | 8:00 AM
      Flow cytometry as you have never seen it before
      Flow cytometry as you have never seen it before
      The CytPix is a flow cytometer that can simultaneously collect fluorescence data and high-resolution brightfield images of individual cells. This allows to better understand the morphology o...
      Speaker: Jordi Petriz
      Sponsored By: Thermo Fisher Scientific
      20
      AUG 01, 2023 | 10:00 PM
      Unraveling the Potential of Neural Stem Cells: Antibodies as Key Tools
      Unraveling the Potential of Neural Stem Cells: Antibodies as Key...
      Stem cells have the capability to develop into any specialized cell type, which makes them a valuable resource in research and regenerative medicine. Differentiated stem cell models provide...
      Speaker: Jamuna KS
      Sponsored By: Thermo Fisher Scientific
      33
      MAY 31, 2023 | 6:00 AM
      Applications of Metagenomic NGS in Immunodeficient Patients
      Applications of Metagenomic NGS in Immunodeficient Patients
      Although metagenomic next-generation sequencing (mNGS) is increasingly used in clinical microbiological diagnosis, especially for rare or complicated infectious diseases, the applications of...
      Speaker: Lili Gao, MD , Tao Chen, MD, PhD
      Sponsored By: BGI Americas
      18
      APR 11, 2023 | 8:00 AM
      Webinar: Dystrophin Quantification in Preclinical and Clinical Settings
      Webinar: Dystrophin Quantification in Preclinical and Clinical...
      Date: April 11, 2023 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Duchenne muscular dystrophy is caused by mutations in the dystrophin encoding DMD gene that disrupt the reading frame. M...
      Speaker: Annemieke Aartsma-Rus, PhD
      Sponsored By: Bio-Techne
      18
      NOV 01, 2022 | 10:00 AM
      Flow cytometric gene mutation assay, made possible by immunomagnetic separation, achieves OECD regulatory status
      Flow cytometric gene mutation assay, made possible by immunomagnetic...
      Date: November 01, 2022 Time: 10:00am (PDT), 1:00pm (EDT), 6:00pm (CET) Our laboratory developed the Pig-a gene mutation assay as a means to simply and reliably evaluate the potential mutage...
      Speaker: Jeffrey Bemis, Ph.D. , Joe Ostrand, Ph.D.
      Sponsored By: Miltenyi Biotec
      11
      OCT 20, 2022 | 9:00 AM
      Immune Secrets of the Lymph Node Revealed by Spatial Genomics
      Immune Secrets of the Lymph Node Revealed by Spatial Genomics
      Date: October 13, 2022 Time: 11:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) Single-cell atlases mapping immune cells provide hints on how immune cells mature, attenuate, and disseminate through...
      Speaker: Jason Reeves
      Sponsored By: NanoString Technologies
      10 1
      JUN 28, 2022 | 9:00 PM
      Mastering basic techniques for cancer cell culture
      Mastering basic techniques for cancer cell culture
      Date: June 29, 2022 Time: 12:00pm (PST), 2:00pm (EST), 8:00pm (CEST) The burden of antimicrobial resistance (AMR) has been acknowledged worldwide by leading health institutes. Besides the ne...
      Speaker: Brittany Balhouse
      Sponsored By: Thermo Fisher Scientific/Gibco
      40 2
      MAY 03, 2022 | 8:00 AM
      Unlocking the genomics of cancer using Sanger sequencing and fragment analysis
      Unlocking the genomics of cancer using Sanger sequencing and fragment...
      Cancer is a disease of the genome, and as such, tools that can analyze the genome are instrumental in understanding the mechanisms that lead to cancer, detecting cancerous cells, and providi...
      Speaker: Steve Jackson, PhD
      Sponsored By: Thermo Fisher Scientific
      15
      APR 19, 2022 | 9:00 AM
      Keynote Panel Presentation: Towards Newborn Screening by Whole Genome Sequencing
      Keynote Panel Presentation: Towards Newborn Screening by Whole...
      Learning Objectives: 1. Discuss the potential for newborn screening by whole genome sequencing. 2. Review the current evidence for the sensitivity and specificity of newborn screening by who...
      Speaker: Thomas Defay, PhD , Stephen Kingsmore, PhD, MD
      Presented at: Genetics Week Virtual Event Series 2022
      1
      MAR 24, 2022 | 8:00 AM
      COSMIC: Combining expert-curation with scientific innovation in a gold-standard database for precision oncology
      COSMIC: Combining expert-curation with scientific innovation in...
      Date: March 24, 2022 Time: 8:00am (PST), 11:00am (EST), 4:00pm (GMT) Key to precision oncology is the development of expert databases that organize and standardize information on cancer-rel...
      Speaker: Rebecca White , Dr. Zbyslaw Sondka
      Sponsored By: QIAGEN
      6
      JAN 20, 2022 | 11:00 AM
      How to streamline your variant classification workflow with HGMD
      How to streamline your variant classification workflow with HGMD
      Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
      Speaker: Malaina Gaddis, PhD
      Sponsored By: QIAGEN
      14
      DEC 07, 2021 | 8:00 AM
      T Cells in COVID-19 - Translating research findings into clinical options
      T Cells in COVID-19 - Translating research findings into clinical...
      Date: November 7, 2021 Time: 8:00am (PDT), 11:00am (EDT) Analysis of SARS-CoV-2–specific T cells is important to understand their role during acute disease and in long-term protection...
      Speaker: Lorenz Fülle, PhD , Kirsten Langeveld
      Sponsored By: Miltenyi Biotec
      10 1
      DEC 01, 2021 | 12:00 PM
      Viral Evolution and Implications on HIV and SARS-CoV-2
      Viral Evolution and Implications on HIV and SARS-CoV-2
      Date: December 1, 2021 Time: 12:00pm (PST), 3:00pm (EST) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
      Speaker: Mary Rodgers, PhD
      Sponsored By: Abbott
      8
      OCT 26, 2021 | 11:00 AM
      Constructing a Spatially Resolved Single-cell Atlas of the Mouse Retina with the MERSCOPE Platform
      Constructing a Spatially Resolved Single-cell Atlas of the Mouse...
      Date: October 26, 2021 Time: 11:00am (PDT), 1:00pm (EDT) The retina is the light-sensing part of the visual system and is composed of six neuron types and several non-neuronal cell types, wi...
      Speaker: Rui Chen, B.S., Ph.D.
      Sponsored By: Vizgen
      5
      OCT 26, 2021 | 9:00 AM
      Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
      Hemoglobinopathy Testing: What are the Key Points a Lab Should...
      Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
      Speaker: Dr. Cornelis Harteveld
      Sponsored By: Sebia, Inc.
      19
      SEP 23, 2021 | 9:00 AM
      Tubulin or Not Tubulin? Heading towards total protein staining as a loading control in immunological protein analytical methods
      Tubulin or Not Tubulin? Heading towards total protein staining...
      Date: September 23, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Western blotting and other immunological protein-analytical methods are widely used for detecting and (semi-)quantifying specific p...
      Speaker: Christian Moritz, PhD
      Sponsored By: ProteinSimple
      3
      AUG 25, 2021 | 1:30 PM
      Spatial Context Matters: Molecular Cartographyâ„¢ to Study Gene Expression Changes in the Brain
      Spatial Context Matters: Molecular Cartographyâ„¢ to Study Gene...
      Technological advances such as single-cell RNA sequencing accelerated our understanding of cellular diversity in tissues. However, the ability to elucidate this cellular heterogeneity while...
      Speaker: Jeroen Aerts, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: Resolve Biosciences
      1
      AUG 25, 2021 | 12:00 AM
      A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
      A Novel Mouse Model of Ataxia Telangiectasia for Testing Small...
      Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and...
      Speaker: Paul Mathews, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      1
      AUG 04, 2021 | 8:00 AM
      The Power of Autofluorescence Extraction Using Full Spectrum Profilingâ„¢
      The Power of Autofluorescence Extraction Using Full Spectrum Profilingâ„¢
      Date: August 4, 2021 Time: 8:00am (PDT), 11:00am (EDT) The intrinsic emission of light by biological structures in the cells, known as autofluorescence (AF), can be detrimental for data reso...
      Speaker: Diana Escobar
      Sponsored By: Cytek Biosciences
      8 1
      JUN 09, 2021 | 8:00 AM
      Working with antigen-specific T cells
      Working with antigen-specific T cells
      DATE: June 9, 2021 TIME: 8:00am PDT Analyzing antigen-specific T cells is essential to understand fundamental immunological processes in the contexts of immuno-oncology, infectious dise...
      Speaker: Lorenz Fülle, PhD
      Sponsored By: Miltenyi Biotec
      10 3
      MAY 18, 2021 | 7:00 AM
      Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
      Hitting the Achilles' Heel of Cancers with Confidence - Robust...
      Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
      Speaker: Qing Wang, PhD, MHS, MS
      Sponsored By: Agilent
      5 2
      APR 22, 2021 | 6:00 AM
      Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
      Panel Presentation: Powering the precision in "precision medicine"...
      As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
      Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      APR 21, 2021 | 5:00 PM
      Immunology Researchers share their Spatial Discoveries in SARS-CoV-2 host response and in multiple sclerosis
      Immunology Researchers share their Spatial Discoveries in SARS-CoV-2...
      Date: April 21, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Spatial Answers Trilogy - Spatial Answers in Immunology Immunology Researchers share their Spatial Discoveries in SARS-C...
      Speaker: Doug Brown, PhD , Susanne Krasemann, MD, PhD , Michelle Naughton, PhD
      Sponsored By: NanoString Technologies, Illumina
      5
    OCT 25, 2023 | 8:30 PM
    Flow cytometry as you have never seen it before
    Flow cytometry as you have never seen it before
    The CytPix is a flow cytometer that can simultaneously collect fluorescence data and high-resolution brightfield images of individual cells. This allows to better understand the morphology o...
    Speaker: Jordi Petriz
    Sponsored By: Thermo Fisher Scientific
    11
    OCT 25, 2023 | 8:00 AM
    Flow cytometry as you have never seen it before
    Flow cytometry as you have never seen it before
    The CytPix is a flow cytometer that can simultaneously collect fluorescence data and high-resolution brightfield images of individual cells. This allows to better understand the morphology o...
    Speaker: Jordi Petriz
    Sponsored By: Thermo Fisher Scientific
    20
    AUG 01, 2023 | 10:00 PM
    Unraveling the Potential of Neural Stem Cells: Antibodies as Key Tools
    Unraveling the Potential of Neural Stem Cells: Antibodies as Key...
    Stem cells have the capability to develop into any specialized cell type, which makes them a valuable resource in research and regenerative medicine. Differentiated stem cell models provide...
    Speaker: Jamuna KS
    Sponsored By: Thermo Fisher Scientific
    33
    MAY 31, 2023 | 6:00 AM
    Applications of Metagenomic NGS in Immunodeficient Patients
    Applications of Metagenomic NGS in Immunodeficient Patients
    Although metagenomic next-generation sequencing (mNGS) is increasingly used in clinical microbiological diagnosis, especially for rare or complicated infectious diseases, the applications of...
    Speaker: Lili Gao, MD , Tao Chen, MD, PhD
    Sponsored By: BGI Americas
    18
    APR 11, 2023 | 8:00 AM
    Webinar: Dystrophin Quantification in Preclinical and Clinical Settings
    Webinar: Dystrophin Quantification in Preclinical and Clinical...
    Date: April 11, 2023 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Duchenne muscular dystrophy is caused by mutations in the dystrophin encoding DMD gene that disrupt the reading frame. M...
    Speaker: Annemieke Aartsma-Rus, PhD
    Sponsored By: Bio-Techne
    18
     
     
  • NOV 01, 2022 | 10:00 AM
    Flow cytometric gene mutation assay, made possible by immunomagnetic separation, achieves OECD regulatory status
    Flow cytometric gene mutation assay, made possible by immunomagnetic...
    Date: November 01, 2022 Time: 10:00am (PDT), 1:00pm (EDT), 6:00pm (CET) Our laboratory developed the Pig-a gene mutation assay as a means to simply and reliably evaluate the potential mutage...
    Speaker: Jeffrey Bemis, Ph.D. , Joe Ostrand, Ph.D.
    Sponsored By: Miltenyi Biotec
    11
    OCT 20, 2022 | 9:00 AM
    Immune Secrets of the Lymph Node Revealed by Spatial Genomics
    Immune Secrets of the Lymph Node Revealed by Spatial Genomics
    Date: October 13, 2022 Time: 11:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) Single-cell atlases mapping immune cells provide hints on how immune cells mature, attenuate, and disseminate through...
    Speaker: Jason Reeves
    Sponsored By: NanoString Technologies
    10 1
    JUN 28, 2022 | 9:00 PM
    Mastering basic techniques for cancer cell culture
    Mastering basic techniques for cancer cell culture
    Date: June 29, 2022 Time: 12:00pm (PST), 2:00pm (EST), 8:00pm (CEST) The burden of antimicrobial resistance (AMR) has been acknowledged worldwide by leading health institutes. Besides the ne...
    Speaker: Brittany Balhouse
    Sponsored By: Thermo Fisher Scientific/Gibco
    40 2
    MAY 03, 2022 | 8:00 AM
    Unlocking the genomics of cancer using Sanger sequencing and fragment analysis
    Unlocking the genomics of cancer using Sanger sequencing and fragment...
    Cancer is a disease of the genome, and as such, tools that can analyze the genome are instrumental in understanding the mechanisms that lead to cancer, detecting cancerous cells, and providi...
    Speaker: Steve Jackson, PhD
    Sponsored By: Thermo Fisher Scientific
    15
    APR 19, 2022 | 9:00 AM
    Keynote Panel Presentation: Towards Newborn Screening by Whole Genome Sequencing
    Keynote Panel Presentation: Towards Newborn Screening by Whole...
    Learning Objectives: 1. Discuss the potential for newborn screening by whole genome sequencing. 2. Review the current evidence for the sensitivity and specificity of newborn screening by who...
    Speaker: Thomas Defay, PhD , Stephen Kingsmore, PhD, MD
    Presented at: Genetics Week Virtual Event Series 2022
    1
     
     
  • MAR 24, 2022 | 8:00 AM
    COSMIC: Combining expert-curation with scientific innovation in a gold-standard database for precision oncology
    COSMIC: Combining expert-curation with scientific innovation in...
    Date: March 24, 2022 Time: 8:00am (PST), 11:00am (EST), 4:00pm (GMT) Key to precision oncology is the development of expert databases that organize and standardize information on cancer-rel...
    Speaker: Rebecca White , Dr. Zbyslaw Sondka
    Sponsored By: QIAGEN
    6
    JAN 20, 2022 | 11:00 AM
    How to streamline your variant classification workflow with HGMD
    How to streamline your variant classification workflow with HGMD
    Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
    Speaker: Malaina Gaddis, PhD
    Sponsored By: QIAGEN
    14
    DEC 07, 2021 | 8:00 AM
    T Cells in COVID-19 - Translating research findings into clinical options
    T Cells in COVID-19 - Translating research findings into clinical...
    Date: November 7, 2021 Time: 8:00am (PDT), 11:00am (EDT) Analysis of SARS-CoV-2–specific T cells is important to understand their role during acute disease and in long-term protection...
    Speaker: Lorenz Fülle, PhD , Kirsten Langeveld
    Sponsored By: Miltenyi Biotec
    10 1
    DEC 01, 2021 | 12:00 PM
    Viral Evolution and Implications on HIV and SARS-CoV-2
    Viral Evolution and Implications on HIV and SARS-CoV-2
    Date: December 1, 2021 Time: 12:00pm (PST), 3:00pm (EST) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
    Speaker: Mary Rodgers, PhD
    Sponsored By: Abbott
    8
    OCT 26, 2021 | 11:00 AM
    Constructing a Spatially Resolved Single-cell Atlas of the Mouse Retina with the MERSCOPE Platform
    Constructing a Spatially Resolved Single-cell Atlas of the Mouse...
    Date: October 26, 2021 Time: 11:00am (PDT), 1:00pm (EDT) The retina is the light-sensing part of the visual system and is composed of six neuron types and several non-neuronal cell types, wi...
    Speaker: Rui Chen, B.S., Ph.D.
    Sponsored By: Vizgen
    5
     
     
  • OCT 26, 2021 | 9:00 AM
    Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
    Hemoglobinopathy Testing: What are the Key Points a Lab Should...
    Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
    Speaker: Dr. Cornelis Harteveld
    Sponsored By: Sebia, Inc.
    19
    SEP 23, 2021 | 9:00 AM
    Tubulin or Not Tubulin? Heading towards total protein staining as a loading control in immunological protein analytical methods
    Tubulin or Not Tubulin? Heading towards total protein staining...
    Date: September 23, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Western blotting and other immunological protein-analytical methods are widely used for detecting and (semi-)quantifying specific p...
    Speaker: Christian Moritz, PhD
    Sponsored By: ProteinSimple
    3
    AUG 25, 2021 | 1:30 PM
    Spatial Context Matters: Molecular Cartographyâ„¢ to Study Gene Expression Changes in the Brain
    Spatial Context Matters: Molecular Cartographyâ„¢ to Study Gene...
    Technological advances such as single-cell RNA sequencing accelerated our understanding of cellular diversity in tissues. However, the ability to elucidate this cellular heterogeneity while...
    Speaker: Jeroen Aerts, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: Resolve Biosciences
    1
    AUG 25, 2021 | 12:00 AM
    A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
    A Novel Mouse Model of Ataxia Telangiectasia for Testing Small...
    Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and...
    Speaker: Paul Mathews, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    1
    AUG 04, 2021 | 8:00 AM
    The Power of Autofluorescence Extraction Using Full Spectrum Profilingâ„¢
    The Power of Autofluorescence Extraction Using Full Spectrum Profilingâ„¢
    Date: August 4, 2021 Time: 8:00am (PDT), 11:00am (EDT) The intrinsic emission of light by biological structures in the cells, known as autofluorescence (AF), can be detrimental for data reso...
    Speaker: Diana Escobar
    Sponsored By: Cytek Biosciences
    8 1
     
     
  • JUN 09, 2021 | 8:00 AM
    Working with antigen-specific T cells
    Working with antigen-specific T cells
    DATE: June 9, 2021 TIME: 8:00am PDT Analyzing antigen-specific T cells is essential to understand fundamental immunological processes in the contexts of immuno-oncology, infectious dise...
    Speaker: Lorenz Fülle, PhD
    Sponsored By: Miltenyi Biotec
    10 3
    MAY 18, 2021 | 7:00 AM
    Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
    Hitting the Achilles' Heel of Cancers with Confidence - Robust...
    Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
    Speaker: Qing Wang, PhD, MHS, MS
    Sponsored By: Agilent
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    APR 22, 2021 | 6:00 AM
    Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
    Panel Presentation: Powering the precision in "precision medicine"...
    As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
    Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    APR 21, 2021 | 5:00 PM
    Immunology Researchers share their Spatial Discoveries in SARS-CoV-2 host response and in multiple sclerosis
    Immunology Researchers share their Spatial Discoveries in SARS-CoV-2...
    Date: April 21, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Spatial Answers Trilogy - Spatial Answers in Immunology Immunology Researchers share their Spatial Discoveries in SARS-C...
    Speaker: Doug Brown, PhD , Susanne Krasemann, MD, PhD , Michelle Naughton, PhD
    Sponsored By: NanoString Technologies, Illumina
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